Inborn errors of development: the molecular basis of clinical disorders of morphogenesis
Gespeichert in:
| Format: | Buch |
|---|---|
| Sprache: | English |
| Veröffentlicht: |
Oxford
Oxford Univ. Press
2004
|
| Schriftenreihe: | Oxford monographs on medical genetics
49 |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | Includes bibliographical references and index |
| Beschreibung: | XXIV, 1082 S. Ill., graph. Darst. |
| ISBN: | 019514502X |
Internformat
MARC
| LEADER | 00000nam a2200000zcb4500 | ||
|---|---|---|---|
| 001 | BV017087813 | ||
| 003 | DE-604 | ||
| 005 | 20040819 | ||
| 007 | t | ||
| 008 | 030422s2004 xxkad|| |||| 00||| eng d | ||
| 010 | |a 2003048693 | ||
| 020 | |a 019514502X |9 0-19-514502-X | ||
| 035 | |a (OCoLC)52030626 | ||
| 035 | |a (DE-599)BVBBV017087813 | ||
| 040 | |a DE-604 |b ger |e aacr | ||
| 041 | 0 | |a eng | |
| 044 | |a xxk |c GB | ||
| 049 | |a DE-355 | ||
| 050 | 0 | |a RB155.5 | |
| 082 | 0 | |a 616/.042 |2 21 | |
| 084 | |a XG 2300 |0 (DE-625)152790: |2 rvk | ||
| 245 | 1 | 0 | |a Inborn errors of development |b the molecular basis of clinical disorders of morphogenesis |c ed. by Charles J. Epstein ... |
| 264 | 1 | |a Oxford |b Oxford Univ. Press |c 2004 | |
| 300 | |a XXIV, 1082 S. |b Ill., graph. Darst. | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b n |2 rdamedia | ||
| 338 | |b nc |2 rdacarrier | ||
| 490 | 1 | |a Oxford monographs on medical genetics |v 49 | |
| 500 | |a Includes bibliographical references and index | ||
| 650 | 7 | |a Aangeboren afwijkingen |2 gtt | |
| 650 | 7 | |a Morfogenese |2 gtt | |
| 650 | 4 | |a Congenital Abnormalities |x genetics | |
| 650 | 4 | |a Developmental disabilities |x Genetic aspects | |
| 650 | 4 | |a Developmental genetics | |
| 650 | 4 | |a Genetic Diseases, Inborn |x genetics | |
| 650 | 4 | |a Genetic disorders | |
| 650 | 4 | |a Genetic disorders in children | |
| 650 | 4 | |a Human Development | |
| 650 | 0 | 7 | |a Teratogenese |0 (DE-588)4184740-4 |2 gnd |9 rswk-swf |
| 650 | 0 | 7 | |a Erbkrankheit |0 (DE-588)4015106-2 |2 gnd |9 rswk-swf |
| 650 | 0 | 7 | |a Genetik |0 (DE-588)4071711-2 |2 gnd |9 rswk-swf |
| 689 | 0 | 0 | |a Teratogenese |0 (DE-588)4184740-4 |D s |
| 689 | 0 | |5 DE-604 | |
| 689 | 1 | 0 | |a Erbkrankheit |0 (DE-588)4015106-2 |D s |
| 689 | 1 | 1 | |a Genetik |0 (DE-588)4071711-2 |D s |
| 689 | 1 | |8 1\p |5 DE-604 | |
| 700 | 1 | |a Epstein, Charles J. |e Sonstige |4 oth | |
| 830 | 0 | |a Oxford monographs on medical genetics |v 49 |w (DE-604)BV000008339 |9 49 | |
| 856 | 4 | 2 | |m HBZ Datenaustausch |q application/pdf |u http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=010306434&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |3 Inhaltsverzeichnis |
| 999 | |a oai:aleph.bib-bvb.de:BVB01-010306434 | ||
| 883 | 1 | |8 1\p |a cgwrk |d 20201028 |q DE-101 |u https://d-nb.info/provenance/plan#cgwrk | |
Datensatz im Suchindex
| _version_ | 1804129970372476928 |
|---|---|
| adam_text | Contents
Contributors xvii
/ GENERAL CONCEPTS
1. Human Malformations and Their Genetic Basis 3
Charles J. Epstein
2. General Principles of Differentiation and Morphogenesis 10
Scott F. Gilbert
3. Model Organisms in the Study of Development and Disease 25
Ethan Bier and William McGinnis
4. Consequences of the Genome Project for Understanding Development 46
David W. Mount
II PATTERNS OF DEVELOPMENT
5. Developmental Origins of the Mammalian Body Plan 53
Michael M. Shen and Roger A. Pedersen
6. Neural Crest Formation and Craniofacial Development 67
Deborah Lang, Christopher B. Brown, and Jonathan A. Epstein
1. Development of the Nervous System 75
John L.R. Rubenstein and Luis Puelles
8. Development of the Ear 89
Donna M. Fekete
9. Development of the Heart and Vasculogenesis 107
Wolfgang Rottbauer and Mark C. Fishman
10. Development of Muscle and Somites 120
Alan Rawls and Jerry M. Rhee
11. Development of Bone and Cartilage 133
Shunichi Murakami, Haruhiko Akiyama, and Benoit de Crombrugghe
12. Development of the Limbs 148
Sahar Nissim and Cliff Tabin
CONTENTS
13. Development of the Genitourinary System 168
Dylan Steer, Kazuhito Fukuoka, Stanley A. Mendoza, and Sanjay K. Nigam
14. Development of Endodermal Derivatives in the Lung, Liver, Pancreas, and Gut 182
Ben Z. Stanger and Douglas A. Melton
15. Development of Epidermal Appendages: Teeth and Hair 199
Atsushi Ohazama and Paul T. Sharpe
III DEFINED PATHWAYS
Part A. The Sonic Hedgehog Signaling Pathway
16. An Introduction to Sonic Hedgehog Signaling 210
M. Michael Cohen, Jr.
17. DHCR7 and the Smith Lemli Opitz (RSH) Syndrome and 229
Cyclopamine Teratogenesis
Mira Irons
18. SHH and Holoprosencephaly 240
M. Michael Cohen, Jr.
19. PTCH and the Basal Cell Nevus (Gorlin) Syndrome 249
Ervin Epstein, Jr.
20. GLI3 and the Pallister Hall and Greig Cephalopolysyndactyly Syndromes 257
Leslie G. Biesecker
21. SALL1 and the Townes Brocks Syndrome 265
Jiirgen Kohlhase and Wolfgang Engel
Part B. The Wnt (Wingless Type) Signaling Pathway
22. Wnt Signaling Pathways 272
Laird C. Sheldahl and Randall T. Moon
23. WISP3 and Progressive Pseudorheumatoid Dysplasia 282
Wafaa Suwairi and Matthew L. Warman
Part C The Transforming Growth Factor (3 (TGF /3) Signaling Pathway
24. An Introduction to TGF /3 Related Signaling 285
Anna Petryk and Michael B. O Connor
25. NOG and Proximal Symphalangisms, Multiple Synostosis Syndrome, 296
Tarsal Carpal Coalition, and Isolated Stapes Ankylosis
Matthew L. Warman
26. ZIC3, CFC1, ACVR2B, and EBAF and the Visceral Heterotaxies 300
Stephanie M. Ware and John W. Belmont
27. CDMPl and Chondrodysplasia (Grebe, Hunter Thompson, and Du Pan Types) 314
and Brachydactyly, Type C
Michael W. Kilpatrick and Petros Tsipouras
28. ENG and ALK1 and Hereditary Hemorrhagic Telangiectasia 319
(Osier Weber Rendu Syndrome) and Vascular Morphogenesis
Douglas A. Marchuk and Jonathan N. Berg
29. RUNX2 and Cleidocranial Dysplasia 331
Brendan Lee and Guang Zhou
Contents
Part D. The Tumor Necrosis Factor Signaling Pathway
30. Signaling by TNF and Related Ligands 340
Pascal Schneider
31. EDI, EDAR, and EDARADD and the Hypohidrotic Ectodermal Dysplasias 359
and the Ectodysplasin Signaling Pathway
Jonathan Zonana
Part E. The Fibroblast Growth Factor Signaling Pathway
32. Molecular and Cellular Biology of FGF Signaling 367
David Givol, Veraragavan P. Eswarakumar, and Peter Lonai
33. FGFs/FGFRs and Associated Disorders 380
M. Michael Cohen, Jr.
34. TWIST and the Saethre Chotzen Syndrome 401
Ethylin Wang Jabs
Part F. The Glial Cell Derived Neurotrophic Factor Signaling Pathway
35. Signaling Pathways of Glial Cell Derived Neurotrophic Factor 410
Louis F. Reichardt
36. RET and Hirschsprung Disease and Multiple Endocrine Neoplasia Type 2 421
Andrew S. McCallion and Aravinda Chakravarti
Part G. The Endothelin Signaling Pathway
37. Introduction to Endothelin 3/Endothelin B Receptor and 433
SOX10 Signaling Pathways
Cheryl E. Gariepy and Masashi Yanagisawa
38. EDNRB, EDN3, and SOX10 and the Shah Waardenburg Syndrome 440
Joke B.G.M. Verheij and Robert M.W. Hofstra
Part H. The Notch Signaling Pathway
39. Introduction to Notch Signaling 447
Alison Miyamoto and Gerry Weinmaster
40. JAG1 and the Alagille Syndrome 461
Nancy B. Spinner and Ian D. Krantz
41. DLL3 and Spondylocostal Dysostosis 470
Peter D. Turnpenny and Kenro Kusumi
Part I. The Sex Determination Pathway
42. Introduction to the Sex Determination Pathway: Mutations in Many Genes 482
Lead to Sexual Ambiguity and Reversal
Robert P. Erickson
43. SOX9 and Campomelic Dysplasia and Sex Reversal 492
Sahar Mansour
44. AMH/MIS and Its Receptors and Sexual Ambiguity and Persistent 497
Mullerian Derivatives
Jean Yves Picard
45. DAX1 and X Linked Adrenal Hypoplasia Congenita and XY Sex Reversal 502
Eric Vilain and Edward R.B. McCabe
CONTENTS
IV GENE FAMILIES NOT YET IN PATHWAYS
Part A. The Homeobox Gene Family
46. The Role of Hox and Dlx Gene Clusters in Evolution and Development 515
Frank H. Ruddle
47. H0XD13 and Synpolydactyly 521
Frances R. Goodman and Peter J. Scambler
48. H0XA13 and the Hand Foot Genital and Guttmacher Syndromes 529
Jeffrey W. Innis
49. Transcription Factors Involved in Disorders of Forebrain and 540
Pituitary Development
Kathryn Woods and Mehul T. Dattani
50. IDX1 and Pancreatic Agenesis and Type 2 Diabetes 552
Melissa K. Thomas and Joel F. Habener
51. MSX1 and Partial Anodontia, Orofacial Clefting, and the Witkop Syndrome 557
Marie Jose H. van den Boogaard
52. MSX2 and ALX4 and Craniosynostosis and Defects in Skull Ossification 568
Ulrich Miiller
53. SHOX and Dyschondrosteosis and the Turner Syndrome 572
Jay W. Ellison
54. HLXB9 and Sacral Agenesis and the Currarino Syndrome 578
Stephen Scherer, Giuseppe Martucciello, Elena Belloni, and Michele Torre
55. EYA1 and the Branchio Oto Renal Syndrome 588
Robert T. Moy and Richard L. Maas
56. PITX2 and PITX3 and the Axenfeld Rieger Syndrome, Iridogoniodysgenesis 599
and Iris Hypoplasia, Peters Anomaly, and Anterior Segment Ocular Dysgenesis
Elena V. Semina
57. CSX/NKX2 5 and Congenital Heart Disease 607
Patrick Y. Jay, Andrew J. Powell, Megan C. Sherwood, and Seigo Izumo
58. LMXIB and the Nail Patella Syndrome 615
Brendan Lee and Roy Morello
Part B. The Paired Box (PAX) Gene Pathway
59. Introduction to Paired Box Genes 625
Petros Petrou and Peter Gruss
60. PAX2 and the Renal Coloboma Syndrome 633
Michael R. Eccles
61. PAX3 and the Waardenburg Syndrome Type 1 643
Andrew Read
62. PAX6 and Aniridia and Related Phenotypes 649
Veronica van Heyningen and Kathleen Williamson
63. PAX9 and Hypodontia 658
Pragna I. Patel and Donald T. Brown
Part C. The Forkhead Gene Family
64. Introduction to Forkhead Genes 664
Naoyuki Miura, Tao Wang, and Tomoki Tamakoshi
65. FOXC1 and FOXL2 and the Axenfeld Rieger Malformations and the 671
Blepharophomisis, Ptosis, and Epicanthus Inversus Syndrome
Ramsey A. Saleem, Fred B. Berry, and Michael A. Walter
Contents
66. FOXC2 and Lymphedema Distichiasis 681
Robert P. Erickson
Part D. The T Box Gene Family
67. Introduction to the T Box Genes and Their Roles in Developmental 686
Signaling Pathways
Virginia E. Papaioannou and Sarah N. Goldin
68. TBX1 and the DiGeorge Syndrome Critical Region 699
Scott E. Klewer, Raymond B. Runyan, and Robert P. Erickson
69. TBX3 and TBX5 and the Ulnar Mammary and Holt Oram Syndromes 705
Michael J. Bamshad and Lynne B. Jorde
V PROCESSES
Part A. Regulation of Chromatin Structure and Gene Expression
70. Mechanisms of Regulated Gene Transcription 719
Michael G. Rosenfeld, Kristen Jepsen, Ola Hermanson, and
Christopher K. Glass
71. CBP and the Rubinstein Taybi Syndrome 728
Fred Petrij, Martijn H. Breuning, Raoul CM. Hennekam, and Rachel H. Giles
72. ATRX and the X Linked a Thalassemia Mental Retardation Syndrome 747
Richard J. Gibbons and Takahito Wada
73. IGF2, H19, p57K1P2, and LIT] and the Beckwith Wiedemann Syndrome 758
Michael R. DeBaun and Andrew P. Feinberg
74. 15ql 1 13 and the Prader Willi Syndrome 766
Shawn E. McCandless and Suzanne B. Cassidy
75. DNMT3B and the Immunodeficiency Centromeric Instability Facial 776
Anomalies Syndrome
Deborah Bourc his, Francoise Ledeist, and Evani Viegas Pequignot
76. RSK2 and the Coffin Lowry Syndrome 780
Maria Zeniou, Sylvie Jacquot, Jean Pierre Delaunoy, and Andre Hammer
Part B. Transcription Factors
11. MITF and the Waardenburg Type II and Albinism Deafness (Tietz) Syndromes 789
Masayoshi Tachibana
78. POU3F4 and Mixed Deafness with Temporal Bone Defect (DFN3) 792
Frans P.M. Cremers and Cor W.R.J. Cremers
79. TFAP2B and the Char Syndrome 798
Masahiko Satoda and Bruce D. Gelb
Part C. Posttranslational Control and Ubiquination
80. An Introduction to Posttranslational Control by Ubiquitin Dependent Proteolysis 804
Peter K. Jackson
81. UBE3A and the Angelman Syndrome 815
Joseph Wagstaff
82. VHL and von Hippel Lindau Disease 823
Eamonn R. Maher
83. MKKS and the McKusick Kaufman and Bardet Biedl Syndromes 828
Leslie G. Biesecker
CONTENTS
Part D. Guanine Nucleotide Binding Proteins
84. An Introduction to Guanine Nucleotide Binding Proteins 832
Sarah E. Newey and Linda Van Aelst
85. GNAS and McCune Albright Syndrome/Fibrous Dysplasia, Albright 849
Hereditary Osteodystrophy/Pseudohypoparathyroidism Type IA, Progressive
Osseous Heteroplasia, and Pseudohypoparathyroidism Type IB
Lee S. Weinstein
86. FGD1 and Faciogenital Dysplasia (Aarskog Scott Syndrome) 867
Jerome L. Gorski
87. NF1 and Neurofibromatosis 1 879
Laura A. Jansen and David H. Gutmann
Part E. Kinases and Phosphatases
88. R0R2 and Brachydactyly Type B and Recessive Robinow Syndrome 886
Michael Oldridge and Andrew O.M. Wilkie
89. PTPNll and the Noonan Syndrome 895
Marco Tartaglia and Bruce D. Gelb
Part F. Microtubule Motors and Cytoskeleton
90. Microtubule Motors: Intracellular Transport, Cell Division, Ciliary Movement, 904
and Nuclear Migration
Anthony Wynshaw Boris
91. TSC1 and TSC2 and Tuberous Sclerosis 910
David J. Kwiatkowski
92. LIS1 and DCX and Classical Lissencephaly 920
Joseph G. Gleeson
93. RELN and Lissencephaly with Cerebellar Hypoplasia 931
Christopher A. Walsh
94. DNA11 and DNAH5 and Primary Ciliary Dyskinesia or Kartagener Syndrome 934
Michal Witt
Part G. Extracellular Matrix
95. Extracellular Matrix and Signaling during Development 946
Scott B. Selleck and Sally E. Stringer
96. GPC3 and the Simpson Golabi Behmel Syndrome 951
Scott Saunders, Rick A. Martin, and Michael R. DeBaun
97. HSPG2 (Perlecan) and the Schwartz Jampel Syndrome and Dyssegmental
Dysplasia, Silverman Handmaker Type 957
Sophie Nicole and Bertrand Fontaine
98. LI CAM and X Linked Hydrocephalus 966
Connie Schrander Stumpel and Jean Pierre Fryns
99. COMP and Pseudoachondroplasia 970
Daniel H. Cohn
100. MMP2 and the Multicentric Osteolysis with Nodulosis and Arthritis Syndrome 977
Oonagh Dowling and John A. Martignetti
Contents
Part H. Angiogenesis
101. Angiopoietins, TIEs, Ephrins, Vascular Endothelial Growth Factors, and 987
Vascular Endothelial Growth Factor Receptors
Miikka Vikkula, Marika J. Karkkainen, and Kari Alitalo
102. VEGFR3 and Milroy Disease 997
Robert E. Ferrell and David N. Fine gold
Part I. Transporters
103. KCNJ2 (Kir2.1) and Andersen Syndrome 1001
David R. Rentier, Rabi Tawil, Martin Tristani Firouzi, and Louis J. Ptdcek
104. ANKH and Craniometaphyseal Dysplasia 1007
Peter Niirnberg and Sigrid Tinschert
VI DYSMORPHIC DISEASE GENES OF UNKNOWN FUNCTION
105. p63 and the Ectodermal Dysplasia, Ectrodactyly, and Cleft Lip and/or Palate 1017
(EEC), Limb Mammary (LMS), Ankyloblepharon, Ectrodactyly, and Cleft
Lip/Palate (AEC, Hay Wells), and Acro Dermato Ungual Lacrimal Digit
(ADULT) Syndromes and Ectrodactyly (Split Hand/Foot Malformation)
Michael J. Bamshad
106. TCOF1 (Treacle) and the Treacher Collins Syndrome 1027
Jill Dixon and Michael J. Dixon
107. LMBR1 and Acheiropodia and Preaxial Polydactyly 1038
Petros Tsipouras and Michael W. Kilpatrick
108. BBS Genes and the Bardet Biedl Syndrome 1044
Val C. Sheffield, Elise Heon, Edwin M. Stone, and Rivka Carmi
Index 1051
|
| any_adam_object | 1 |
| building | Verbundindex |
| bvnumber | BV017087813 |
| callnumber-first | R - Medicine |
| callnumber-label | RB155 |
| callnumber-raw | RB155.5 |
| callnumber-search | RB155.5 |
| callnumber-sort | RB 3155.5 |
| callnumber-subject | RB - Pathology |
| classification_rvk | XG 2300 |
| ctrlnum | (OCoLC)52030626 (DE-599)BVBBV017087813 |
| dewey-full | 616/.042 |
| dewey-hundreds | 600 - Technology (Applied sciences) |
| dewey-ones | 616 - Diseases |
| dewey-raw | 616/.042 |
| dewey-search | 616/.042 |
| dewey-sort | 3616 242 |
| dewey-tens | 610 - Medicine and health |
| discipline | Medizin |
| format | Book |
| fullrecord | <?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>02245nam a2200577zcb4500</leader><controlfield tag="001">BV017087813</controlfield><controlfield tag="003">DE-604</controlfield><controlfield tag="005">20040819 </controlfield><controlfield tag="007">t</controlfield><controlfield tag="008">030422s2004 xxkad|| |||| 00||| eng d</controlfield><datafield tag="010" ind1=" " ind2=" "><subfield code="a">2003048693</subfield></datafield><datafield tag="020" ind1=" " ind2=" "><subfield code="a">019514502X</subfield><subfield code="9">0-19-514502-X</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(OCoLC)52030626</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)BVBBV017087813</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-604</subfield><subfield code="b">ger</subfield><subfield code="e">aacr</subfield></datafield><datafield tag="041" ind1="0" ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="044" ind1=" " ind2=" "><subfield code="a">xxk</subfield><subfield code="c">GB</subfield></datafield><datafield tag="049" ind1=" " ind2=" "><subfield code="a">DE-355</subfield></datafield><datafield tag="050" ind1=" " ind2="0"><subfield code="a">RB155.5</subfield></datafield><datafield tag="082" ind1="0" ind2=" "><subfield code="a">616/.042</subfield><subfield code="2">21</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">XG 2300</subfield><subfield code="0">(DE-625)152790:</subfield><subfield code="2">rvk</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Inborn errors of development</subfield><subfield code="b">the molecular basis of clinical disorders of morphogenesis</subfield><subfield code="c">ed. by Charles J. Epstein ...</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="a">Oxford</subfield><subfield code="b">Oxford Univ. Press</subfield><subfield code="c">2004</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">XXIV, 1082 S.</subfield><subfield code="b">Ill., graph. Darst.</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="b">n</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="b">nc</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="490" ind1="1" ind2=" "><subfield code="a">Oxford monographs on medical genetics</subfield><subfield code="v">49</subfield></datafield><datafield tag="500" ind1=" " ind2=" "><subfield code="a">Includes bibliographical references and index</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">Aangeboren afwijkingen</subfield><subfield code="2">gtt</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">Morfogenese</subfield><subfield code="2">gtt</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Congenital Abnormalities</subfield><subfield code="x">genetics</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Developmental disabilities</subfield><subfield code="x">Genetic aspects</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Developmental genetics</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Genetic Diseases, Inborn</subfield><subfield code="x">genetics</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Genetic disorders</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Genetic disorders in children</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Human Development</subfield></datafield><datafield tag="650" ind1="0" ind2="7"><subfield code="a">Teratogenese</subfield><subfield code="0">(DE-588)4184740-4</subfield><subfield code="2">gnd</subfield><subfield code="9">rswk-swf</subfield></datafield><datafield tag="650" ind1="0" ind2="7"><subfield code="a">Erbkrankheit</subfield><subfield code="0">(DE-588)4015106-2</subfield><subfield code="2">gnd</subfield><subfield code="9">rswk-swf</subfield></datafield><datafield tag="650" ind1="0" ind2="7"><subfield code="a">Genetik</subfield><subfield code="0">(DE-588)4071711-2</subfield><subfield code="2">gnd</subfield><subfield code="9">rswk-swf</subfield></datafield><datafield tag="689" ind1="0" ind2="0"><subfield code="a">Teratogenese</subfield><subfield code="0">(DE-588)4184740-4</subfield><subfield code="D">s</subfield></datafield><datafield tag="689" ind1="0" ind2=" "><subfield code="5">DE-604</subfield></datafield><datafield tag="689" ind1="1" ind2="0"><subfield code="a">Erbkrankheit</subfield><subfield code="0">(DE-588)4015106-2</subfield><subfield code="D">s</subfield></datafield><datafield tag="689" ind1="1" ind2="1"><subfield code="a">Genetik</subfield><subfield code="0">(DE-588)4071711-2</subfield><subfield code="D">s</subfield></datafield><datafield tag="689" ind1="1" ind2=" "><subfield code="8">1\p</subfield><subfield code="5">DE-604</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Epstein, Charles J.</subfield><subfield code="e">Sonstige</subfield><subfield code="4">oth</subfield></datafield><datafield tag="830" ind1=" " ind2="0"><subfield code="a">Oxford monographs on medical genetics</subfield><subfield code="v">49</subfield><subfield code="w">(DE-604)BV000008339</subfield><subfield code="9">49</subfield></datafield><datafield tag="856" ind1="4" ind2="2"><subfield code="m">HBZ Datenaustausch</subfield><subfield code="q">application/pdf</subfield><subfield code="u">http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=010306434&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA</subfield><subfield code="3">Inhaltsverzeichnis</subfield></datafield><datafield tag="999" ind1=" " ind2=" "><subfield code="a">oai:aleph.bib-bvb.de:BVB01-010306434</subfield></datafield><datafield tag="883" ind1="1" ind2=" "><subfield code="8">1\p</subfield><subfield code="a">cgwrk</subfield><subfield code="d">20201028</subfield><subfield code="q">DE-101</subfield><subfield code="u">https://d-nb.info/provenance/plan#cgwrk</subfield></datafield></record></collection> |
| id | DE-604.BV017087813 |
| illustrated | Illustrated |
| indexdate | 2024-07-09T19:13:36Z |
| institution | BVB |
| isbn | 019514502X |
| language | English |
| lccn | 2003048693 |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-010306434 |
| oclc_num | 52030626 |
| open_access_boolean | |
| owner | DE-355 DE-BY-UBR |
| owner_facet | DE-355 DE-BY-UBR |
| physical | XXIV, 1082 S. Ill., graph. Darst. |
| publishDate | 2004 |
| publishDateSearch | 2004 |
| publishDateSort | 2004 |
| publisher | Oxford Univ. Press |
| record_format | marc |
| series | Oxford monographs on medical genetics |
| series2 | Oxford monographs on medical genetics |
| spelling | Inborn errors of development the molecular basis of clinical disorders of morphogenesis ed. by Charles J. Epstein ... Oxford Oxford Univ. Press 2004 XXIV, 1082 S. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Oxford monographs on medical genetics 49 Includes bibliographical references and index Aangeboren afwijkingen gtt Morfogenese gtt Congenital Abnormalities genetics Developmental disabilities Genetic aspects Developmental genetics Genetic Diseases, Inborn genetics Genetic disorders Genetic disorders in children Human Development Teratogenese (DE-588)4184740-4 gnd rswk-swf Erbkrankheit (DE-588)4015106-2 gnd rswk-swf Genetik (DE-588)4071711-2 gnd rswk-swf Teratogenese (DE-588)4184740-4 s DE-604 Erbkrankheit (DE-588)4015106-2 s Genetik (DE-588)4071711-2 s 1\p DE-604 Epstein, Charles J. Sonstige oth Oxford monographs on medical genetics 49 (DE-604)BV000008339 49 HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=010306434&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis 1\p cgwrk 20201028 DE-101 https://d-nb.info/provenance/plan#cgwrk |
| spellingShingle | Inborn errors of development the molecular basis of clinical disorders of morphogenesis Oxford monographs on medical genetics Aangeboren afwijkingen gtt Morfogenese gtt Congenital Abnormalities genetics Developmental disabilities Genetic aspects Developmental genetics Genetic Diseases, Inborn genetics Genetic disorders Genetic disorders in children Human Development Teratogenese (DE-588)4184740-4 gnd Erbkrankheit (DE-588)4015106-2 gnd Genetik (DE-588)4071711-2 gnd |
| subject_GND | (DE-588)4184740-4 (DE-588)4015106-2 (DE-588)4071711-2 |
| title | Inborn errors of development the molecular basis of clinical disorders of morphogenesis |
| title_auth | Inborn errors of development the molecular basis of clinical disorders of morphogenesis |
| title_exact_search | Inborn errors of development the molecular basis of clinical disorders of morphogenesis |
| title_full | Inborn errors of development the molecular basis of clinical disorders of morphogenesis ed. by Charles J. Epstein ... |
| title_fullStr | Inborn errors of development the molecular basis of clinical disorders of morphogenesis ed. by Charles J. Epstein ... |
| title_full_unstemmed | Inborn errors of development the molecular basis of clinical disorders of morphogenesis ed. by Charles J. Epstein ... |
| title_short | Inborn errors of development |
| title_sort | inborn errors of development the molecular basis of clinical disorders of morphogenesis |
| title_sub | the molecular basis of clinical disorders of morphogenesis |
| topic | Aangeboren afwijkingen gtt Morfogenese gtt Congenital Abnormalities genetics Developmental disabilities Genetic aspects Developmental genetics Genetic Diseases, Inborn genetics Genetic disorders Genetic disorders in children Human Development Teratogenese (DE-588)4184740-4 gnd Erbkrankheit (DE-588)4015106-2 gnd Genetik (DE-588)4071711-2 gnd |
| topic_facet | Aangeboren afwijkingen Morfogenese Congenital Abnormalities genetics Developmental disabilities Genetic aspects Developmental genetics Genetic Diseases, Inborn genetics Genetic disorders Genetic disorders in children Human Development Teratogenese Erbkrankheit Genetik |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=010306434&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
| volume_link | (DE-604)BV000008339 |
| work_keys_str_mv | AT epsteincharlesj inbornerrorsofdevelopmentthemolecularbasisofclinicaldisordersofmorphogenesis |