Oxford desk reference clinical genetics:
Gespeichert in:
Späterer Titel: | Firth, Helen V. Oxford desk reference clinical genetics and genomics |
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Format: | Buch |
Sprache: | English |
Veröffentlicht: |
Oxford
Oxford Univ. Press
2005
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Ausgabe: | 1. publ. |
Schlagworte: | |
Online-Zugang: | Table of contents Inhaltsverzeichnis |
Beschreibung: | Hier auch später erschienene, unveränderte Nachdrucke |
Beschreibung: | XLIII, 708 S. Ill., graph. Darst. |
ISBN: | 0192628968 9780192628961 |
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245 | 1 | 0 | |a Oxford desk reference clinical genetics |c Helen V. Firth ... |
246 | 1 | 3 | |a Clinical genetics |
250 | |a 1. publ. | ||
264 | 1 | |a Oxford |b Oxford Univ. Press |c 2005 | |
300 | |a XLIII, 708 S. |b Ill., graph. Darst. | ||
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500 | |a Hier auch später erschienene, unveränderte Nachdrucke | ||
650 | 4 | |a Génétique médicale - Guides, manuels, etc | |
650 | 7 | |a Medische genetica |2 gtt | |
650 | 4 | |a Medical genetics |v Handbooks, manuals, etc | |
650 | 4 | |a Genetics, Medical |v Handbooks | |
650 | 4 | |a Chromosome Aberrations |v Handbooks | |
650 | 4 | |a Genetic Diseases, Inborn |v Handbooks | |
650 | 4 | |a Genetic Predisposition to Disease |v Handbooks | |
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Datensatz im Suchindex
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adam_text | ix
Brief contents
Detailed contents xi
System based contents xv
Glossary of terms used in dysmorphology xix
Glossary of terms used in genetics xxiv
Abbreviations xxxiii
Expert advisers xli
1 Introduction
2 Clinical approach 37
3 Common consultations 259
4 Cancer 425
5 Chromosomes 489
6 Pregnancy and fertility 5*5
Appendix 645
Index 701
Detailed
System based contents xv
Glossary of terms used in dysmorphology xix
Glossary of terms used in genetics xxiv
Abbreviations xxxiii
Expert advisers xti
1 Introduction 1
Adoption 2
Approach to the consultation with a child with
dysmorphism, congenital malformation, or
developmental delay 4
Autosomal dominant (AD) inheritance 6
Autosomal recessive (AR) inheritance 8
Communication skills 10
Confidentiality 12
Confirmation of diagnosis 14
Consent for genetic testing 1b
The genetic code and mutations 18
Genomic imprinting 20
Mitochondrial inheritance 22
Multifactorial inheritance 24
Reproductive options 26
Testing for genetic status 28
Useful resources 30
X linked dominant (XLD) inheritance 32
X linked recessive (XLR) inheritance 34
2 Clinical approach 31
Ambiguous genitalia (including sex reversal) 38
Anal anomalies (atresia, stenosis) 42
Anterior segment eye malformations 4b
Arthrogryposis (arthrogryposis multiplex
congenita) 48
Ataxic adult 50
Ataxic child 52
Brachydactyly 56
Broad thumbs 58
Cardiomyopathy in children under 10 years bO
Cataract 64
Cerebellar anomalies 66
Cerebral palsy 70
Chondrodysplasia punctata 72
Cleft lip and palate 74
Coarse facial features 78
Coloboma 82
Congenital heart disease 84
Corneal clouding 88
contents
Severe deafness in early childhood 90
Developmental delay in the child with
consanguineous parents 94
Developmental regression 96
Duane retraction syndrome 100
Dysmorphic child 102
Dystonia 706
Ear anomalies 108
Facial asymmetry 112
Failure to thrive 1 1b
Floppy infant 1 18
Fractures 122
Generalized disorders of skin pigmentation
(including albinism) 126
Hemihypertrophy and limb asymmetry 128
Holoprosencephaly (HPE) 130
Hydrocephalus 134
Hypermobile joints 138
Hypoglycaemia in the neonate and infant 140
Hypospadias 142
Increased bone density 144
Large fontanelle 146
Laterality disorders including heterotaxy and
isomerism 148
Leukodystrophy/leukoencephalopathy 150
Limb reduction defects 152
Lissencephaly and neuronal migration
disorders 156
Lumps and bumps 160
Macrocephaly 162
Mental retardation with apparent X linked
inheritance 164
Mental retardation 168
Microcephaly 112
Micrognathia and Robin sequence 174
Microphthalmia and anophthalmia 776
Minor congenital anomalies 780
Nasal anomalies 782
Neonatal encephalopathy and intractable
seizures in the neonate 786
Nystagmus 790
Obesity with and without developmental
delay 192
Ocular hypertelorism 796
Oedema—generalized or puffy
extremities 798
Oesophageal and intestinal atresia (including
tracheo oesophageal fistula) 200
Optic nerve hypoplasia 204
Overgrowth 206
Patchy hypomelanotic skin lesions 208
Patchy pigmented skin lesions
(including cafe au lait spots) 210
Plagiocephaly and abnormalities of
skull shape 212
Postaxial polydactyly 214
Preaxial polydactyly 218
Prolonged neonatal jaundice and jaundice in
infants below 6 months 220
Ptosis, blepharophimosis, and other eyelid
anomalies 224
Radial ray defects and thumb hypoplasia 228
Retinal dysplasia 230
Retinal receptor dystrophies 232
Scalp defects 236
Seizures with developmental delay/mental
retardation 238
Short stature 242
Skeletal dysplasia 246
Structural intracranial anomalies (agenesis
of the corpus callosum, septo optic dysplasia,
and arachnoid cysts) 248
Suspected non accidental injury 252
Syndactyly (other than 2, 3 toe syndactyly) 254
Unusual hair, teeth, nails, and skin 256
3 Common consultations 259
Achondroplasia 260
Autosomal dominant polycystic kidney
disease (ADPKD) 262
X linked adrenoleukodystrophy (X ALD) 264
Alpharantitrypsin deficiency 266
Alport syndrome 268
Androgen insensitivity syndrome (AIS) 270
Angelman syndrome 272
Autism and austism spectrum disorders 274
Beckwith Wiedemann syndrome (BWS) 278
Congenital adrenal hyperplasia (CAH) 282
Consanguinity 284
Craniosynostosis 288
Cystic fibrosis (CF) 292
Dementia 296
Diabetes mellitus 298
Dilated cardiomyopathy (DCM) 302
DNA repair defects 304
Duchenne and Becker muscular dystrophy
(DMDandBMD) 308
Ehlers Danlos syndrome (EDS) 312
Epilepsy in infants and children 314
Epilepsy 318
Facioscapulohumeral muscular dystrophy
(FSHD) 322
Fragile X syndrome (FRAX) 324
Glaucoma 328
Haemochromatosis 330
Haemoglobinopathies 334
Haemophilia and other inherited coagulation
disorders 338
Hereditary haemorrhagic
telangiectasia (HHT) 342
Hereditary motor and sensory neuropathy
(HMSN) 344
Hereditary spastic paraplegias (HSP) 348
Hirschsprung disease 352
Huntington disease (HD) 354
Hyperlipidaemia 358
Hypertrophic cardiomyopathy (HCM) 360
Immunodeficiency and recurrent
infection 364
Incest 370
Leigh encephalopathy 372
Limb girdle muscular dystrophies 374
Long QT and Brugada syndromes 378
Marfan syndrome 380
Mitochondrial DNA diseases 384
Myotonic dystrophy (DM) 388
Neural tube defects 392
Neurofibromatosis type 1 (NF1) 396
Noonan syndrome (NS) 402
Parkinson disease 404
Retinitis pigmentosa (RP) 406
Rett syndrome 408
Sensitivity to anaesthetic agents 410
Spinal muscular atrophy (SMA) 412
Stickler syndrome 414
Thrombophilia 416
Tuberous sclerosis (TSC) 420
4 Cancer 425
BRCA1 and BRCA2 426
Breast cancer 430
Cancer surveillance methods 434
Colorectal cancer (CRC) 436
Confirmation of diagnosis of cancer 440
Cowden syndrome (CS) 442
Familial adenomatous polyposis (FAP) 444
Gastric cancer 450
Gorlin syndrome 452
Hereditary nonpolyposis colorectal cancer
(HNPCC) 454
Juvenile polyposis syndrome (|PS) 460
Lifestyle factors in cancer smoking, alcohol,
obesity, diet, and exercise 462
Li Fraumeni syndrome (LFS) 464
Multiple endocrine neoplasia (MEN) 466
Neurofibromatosis type 2 (NF2) 470
Ovarian cancer 472
Peutz Jeghers syndrome (PJS) 474
Phaeochromocytoma 478
Retinoblastoma 480
von Hippel Lindau (VHL) disease 484
Wilms tumour 486
5 Chromosomes 489
22q11 deletion syndrome 490
47.XXX 494
47.XXY 496
47.XYY 498
Autosomal reciprocal translocations—
background 500
Autosomal reciprocal
translocations—familial 504
Autosomal reciprocal translocations—
postnatal 506
Autosomal reciprocal translocations—
prenatal 508
Cell division—mitosis, meiosis, and
non disjunction 510
Chromosomal mosaicism—postnatal 514
Chromosomal mosaicism—prenatal 516
Deletions and duplications 520
Down syndrome (trisomy 21) 524
Edwards syndrome (trisomy 18) 526
Inversions 528
Mosaic trisomy 8 530
Mosaic trisomy 16 532
Patau syndrome (trisomy 13) 534
Prenatal diagnosis of sex chromosome
aneuploidy 536
Ring chromosomes 538
Robertsonian translocations 540
Sex chromosome mosaicism 544
Submicroscopic chromosomal
abnormalities and the chromosomal
phenotype 546
Supernumerary marker chromosomes
(SMCs)—postnatal 552
Supernumerary marker chromosomes
(SMCs)—prenatal 554
Triploidy (69.XXX, 69.XXY,
or69,XYY) 556
Turner syndrome, 45,X and variants 558
X autosome translocations 562
6 Pregnancy and fertility 565
Anterior abdominal wall defects 566
Assisted reproductive technology: in vitro
fertilization (IVF), intracytoplasmic sperm
injection (ICSI), and pre implantation genetic
diagnosis (PGD) 568
Bowed limbs 572
Club foot (talipes) 574
Congenital cystic lung lesions, Currarino
syndrome, and sacrococcygeal teratoma 576
Congenital diaphragmatic hernia 578
Cytomegalovirus (CMV) 580
Dandy Walker malformation 582
Drugs in pregnancy 584
Female infertility and amenorrhoea:
genetic aspects 586
Fetal alcohol syndrome (FAS) 588
Fetal anticonvulsant syndrome (FACS) 590
Fetomaternal alloimmunization (rhesus D
and thrombocytopenia) 592
Hyperechogenic bowel 594
Hypoplastic left heart 596
Imaging in prenatal diagnosis 598
Invasive techniques and genetic tests in
prenatal diagnosis 600
Low maternal serum oestriol 604
Male infertility: genetic aspects 606
Maternal age 6 JO
Maternal diabetes mellitus and diabetic
embryopathy 612
Maternal phenylketonuria (PKU) 614
Miscarriage and recurrent miscarriage 616
Oedema—increased nuchal translucency, cystic
hygroma, and hydrops 6)8
Premature ovarian failure (POF) 620
Radiation exposure chemotherapy and
landfill sites 622
Renal tract anomalies 624
Rubella 628
Short limbs 630
Toxoplasmosis 634
Twins and twinning 636
Varicella 640
Ventriculomegaly 642
Appendix 645
Bayes theorem 646
Behavioural pattern profile (Shalev
and Hall 2004) 648
Carrier frequency and carrier testing for
autosomal recessive disorders 650
Centile charts for boys height and weight 652
Centile charts for girls height and weight 656
Centile charts for occipital frontal circumference
(OFC) 660
CK (Creatine kinase) levels in carriers of
Duchenne muscular dystrophy (DMD) 662
Conversion charts from English to metric
units for height and weight 664
Denver Developmental Screening Test 666
Distribution of muscle weakness in
different types of muscular dystrophy 668
Dysmorphology examination checklist 670
Embryonic fetal development (overview) 672
Family tree sheet and symbols 674
Haploid autosomal lengths of human
chromosomes 676
Investigation of lethal metabolic disorder or
skeletal dysplasia 678
ISCN Nomenclature 680
Karyotypes 682
Normal range of aortic root
dimensions 684
Paternity testing 688
Patterns of cancer 690
Radiological investigations including magnetic
resonance imaging (MRI) 694
Skeletal dysplasia charts 696
Staging of puberty 700
Index 70?
Human chromosome ideograms inside
front and back covers
System
Cardiac disorders
22q deletion syndrome
in Chromosomes 490
Cardiomyopathy in children under 10 years
in Clinical approach 60
Congenital heart disease
in Clinical approach 84
Dilated cardiomyopathy
in Common consultations 302
Hypertrophic cardiomyopathy
in Common consultations 360
Hypoplastic left heart
in Pregnancy and fertility 596
Laterality disorders including heterotaxy
and isomerism
in Clinical approach 148
Long QT syndrome
in Common consultations 378
Marfan syndrome
in Common consultations 380
Normal range of aortic root dimensions in
Appendix 684
Cranial imaging abnormalities
Cerebellar anomalies
in Clinical approach 66
Cerebral palsy
in Clinical approach 70
Dandy Walker malformation
in Pregnancy and fertility 582
Holoprosencephaly
in Clinical approach 130
Hydrocephalus
in Clinical approach 134
Lissencephaly and neuronal migration disorders
in Clinical approach 156
Leukodystrophy
in Clinical approach 150
Neural tube defects
in Common consultations 392
Structural intracranial anomalies
in Clinical approach 248
Ventriculomegaly
in Pregnancy and fertility 642
based contents
Cranial size and shape
abnormal
Craniosynostosis
in Common consultations 288
Head circumference charts
in Appendix 660
Large fontanelle
in Clinical approach 146
Macrocephaly
in Clinical approach 162
Microcephaly
in Clinical approach 172
Plagiocephaly and abnormalities of skull shape
in Clinical approach 212
Developmental delay/
learning disability and
neurodevelopmental
disorders
Approach to the child with dysmorphism or
developmental delay
in Introduction 4
Autism and austism spectrum disorders
in Common consultations 274
Cerebral palsy
in Clinical approach 70
Denver Developmental Screening Test
in Appendix 666
Developmental delay in the child with
consanguineous parents
in Clinical approach 94
Developmental regression
in Clinical approach 96
Fragile X syndrome
in Common consultations 324
Mental retardation
in Clinical approach 168
Mental retardation with apparent
X linked inheritance
in Clinical approach 164
Rett syndrome
in Common consultations 408
Seizures with developmental delay
in Clinical approach 238
Dysmorphology
Approach to the child with dysmorphism or
developmental delay
in Introduction 4
Coarse facial features
in Clinical approach 78
Cleft lip/palate
in Clinical approach 74
Dysmorphic child
in Clinical approach 102
Dysmorphology examination checklist
in Appendix 670
Ear anomalies
in Clinical approach 108
Facial asymmetry
in Clinical approach 112
Micrognathia and Robin sequence
in Clinical approach 174
Nasal anomalies
in Clinical approach 182
Ocular hypertelorism
in Clinical approach 196
Eye disorders
Anterior segment eye malformations
in Clinical approach 46
Coloboma
in Clinical approach 62
Corneal clouding
in Clinical approach 88
Duane retraction syndrome
in Clinical approach 100
Glaucoma
in Common consultations 328
Microphthalmia and anophthalmia
in Clinical approach 176
Nystagmus
in Clinical approach 190
Ocular hypertelorism
in Clinical approach 196
Optic nerve hypoplasia
in Clinical approach 204
Ptosis, blepharophimosis, and other
eyelid anomalies
in Clinical approach 224
Retinal dysplasia
in Clinical approach 230
Retinitis pigmentosa
in Common consultations 406
Retinal receptor dystrophies
in Clinical approach 232
Growth
Centile charts for boys height and weight
in Appendix 652
Centile charts for girls height and weight 656
in Appendix 656
Centile charts for occipital frontal circumference
(OFC) in Appendix 660
Failure to thrive
in Clinical approach 116
Hemihypertrophy and limb asymmetry
in Clinical approach 128
Obesity with and without developmental
delay
in Clinical approach 192
Overgrowth
in Clinical approach 206
Short limbs
in Pregnancy and fertility 630
Short stature
in Clinical approach 242
Skeletal dysplasia
in Clinical approach 246
Staging of puberty
in Appendix 700
Haematological disorders
Haemochromatosis
in Common consultations 330
Haemoglobinopathies
in Common consultations 334
Haemophilia
in Common consultations 338
Thrombophilia
in Common consultations 416
Limb anomalies
Brachydactyly
in Clinical approach 56
Broad thumbs
in Clinical approach 58
Club foot (talipes)
in Pregnancy and fertility 574
Limb reduction defects
in Clinical approach 152
Postaxial polydactyly
in Clinical approach 214
Preaxial polydactyly
in Clinical approach 218
Radial ray and thumb hypoplasia
in Clinical approach 228
Syndactyly
in Clinical approach 254
Muscle disorders
Arthrogryposis
in Clinical approach 48
Creatine kinase (CK) levels in carriers of
Duchenne muscular dystrophy
in Appendix 662
Distribution of muscle weakness in different
types of muscle dystrophy
in Appendix 668
Duchenne and Becker muscular dystrophies
in Common consultations 308
Facioscapulohumeral muscular dystrophy
in Common consultations 322
Floppy infant
in Clinical approach 118
Limb girdle dystrophy
in Common consultations 374
Myotonic dystrophy
in Common consultations 388
Neonatal disorders
Floppy infant
in Clinical approach 118
Hypoglycaemia in neonate and infant
in Clinical approach 140
Minor congenital anomalies
in Clinical approach 180
Neonatal encephalopathy and intractable seizures
in Clinical approach 786
Prolonged neonatal jaundice and jaundice
in infants under 6 months
in Clinical approach 220
Neurological disorders
Adrenoleukodystrophy (X linked)
in Common consultations 264
Arthrogryposis
in Clinical approach 48
Ataxic adult
in Clinical approach 50
Dementia
in Common consultations 296
Dystonia
in Clinical approach 106
Floppy infant
in Clinical approach 118
Hereditary spastic paraparesis
in Common consultations 348
Huntington disease
in Common consultations 354
Parkinson disease
in Common consultations 404
Spinal muscular atrophy
in Common consultations 412
Seizures
Epilepsy
in Common consultations 318
Epilepsy in infants and children
in Common consultations 314
Fetal anticonvulsant syndrome
in Pregnancy and fertility 590
Neonatal encephalopathy and intractable seizures
in Clinical approach 186
Seizures with developmental delay
in Clinical approach 238
Skeletal disorders
Achondroplasia
in Common consultations 260
Bowed limbs
in Pregnancy and fertility 572
Centile charts for height/weight in boys
in Appendix 652
Centile charts for height/weight in girls
in Appendix 656
Chrondrodysplasia punctata
in Clinical approach 12
Fractures
in Clinical approach 122
Increased bone density
in Clinical approach 144
Radiological investigations including magnetic
resonance imaging (MRI)
in Appendix 694
Short limbs
in Pregnancy and fertility 630
Skeletal dysplasia
in Clinical approach 246
Skeletal dysplasias presenting at birth
in Appendix 696
The non lethal skeletal dysplasias
in Appendix 698
Skin disorders
Generalized disorders of skin pigmentation
(including albinism)
in Clinical approach 126
Patchy hypomelanotic skin lesions
in Clinical approach 208
Patchy pigmented skin lesions (including
cafe au lait patches)
in Clinical approach 210
Unusual hair, teeth, nails, and skin
in Clinical approach 256
Teratogens
Cytomegalovirus
in Pregnancy and fertility 580
Drugs in pregnancy
in Pregnancy and fertility 584
Fetal alcohol syndrome
in Pregnancy and fertility 588
Fetal anticonvulsant syndrome
in Pregnancy and fertility 590
Maternal diabetes and diabetic embryopathy
in Pregnancy and fertility 6)2
Maternal phenylketonuria (PKU)
in Pregnancy and fertility 614
Radiation chemotherapy and landfill sites
in Pregnancy and fertility 622
Rubella
in Pregnancy and fertility 628
Toxoplasmosis
in Pregnancy and fertility 634
Varicella
in Pregnancy and fertility 640
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dewey-search | 616/.042 |
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dewey-tens | 610 - Medicine and health |
discipline | Biologie Medizin |
edition | 1. publ. |
format | Book |
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genre | (DE-588)4066724-8 Wörterbuch gnd-content |
genre_facet | Wörterbuch |
id | DE-604.BV019868298 |
illustrated | Illustrated |
indexdate | 2024-07-09T20:07:58Z |
institution | BVB |
isbn | 0192628968 9780192628961 |
language | English |
lccn | 2004029397 |
oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-013192661 |
oclc_num | 57251006 |
open_access_boolean | |
owner | DE-355 DE-BY-UBR DE-29 DE-20 |
owner_facet | DE-355 DE-BY-UBR DE-29 DE-20 |
physical | XLIII, 708 S. Ill., graph. Darst. |
publishDate | 2005 |
publishDateSearch | 2005 |
publishDateSort | 2005 |
publisher | Oxford Univ. Press |
record_format | marc |
spelling | Oxford desk reference clinical genetics Helen V. Firth ... Clinical genetics 1. publ. Oxford Oxford Univ. Press 2005 XLIII, 708 S. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Hier auch später erschienene, unveränderte Nachdrucke Génétique médicale - Guides, manuels, etc Medische genetica gtt Medical genetics Handbooks, manuals, etc Genetics, Medical Handbooks Chromosome Aberrations Handbooks Genetic Diseases, Inborn Handbooks Genetic Predisposition to Disease Handbooks Humangenetik (DE-588)4072653-8 gnd rswk-swf Erbkrankheit (DE-588)4015106-2 gnd rswk-swf (DE-588)4066724-8 Wörterbuch gnd-content Humangenetik (DE-588)4072653-8 s Erbkrankheit (DE-588)4015106-2 s b DE-604 Firth, Helen V. Sonstige oth Gefolgt von Firth, Helen V. Oxford desk reference clinical genetics and genomics 978-0-19-955750-9 http://www.loc.gov/catdir/toc/ecip055/2004029397.html Table of contents HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=013192661&sequence=000008&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
spellingShingle | Oxford desk reference clinical genetics Génétique médicale - Guides, manuels, etc Medische genetica gtt Medical genetics Handbooks, manuals, etc Genetics, Medical Handbooks Chromosome Aberrations Handbooks Genetic Diseases, Inborn Handbooks Genetic Predisposition to Disease Handbooks Humangenetik (DE-588)4072653-8 gnd Erbkrankheit (DE-588)4015106-2 gnd |
subject_GND | (DE-588)4072653-8 (DE-588)4015106-2 (DE-588)4066724-8 |
title | Oxford desk reference clinical genetics |
title_alt | Clinical genetics |
title_auth | Oxford desk reference clinical genetics |
title_exact_search | Oxford desk reference clinical genetics |
title_full | Oxford desk reference clinical genetics Helen V. Firth ... |
title_fullStr | Oxford desk reference clinical genetics Helen V. Firth ... |
title_full_unstemmed | Oxford desk reference clinical genetics Helen V. Firth ... |
title_new | Firth, Helen V. Oxford desk reference clinical genetics and genomics |
title_short | Oxford desk reference clinical genetics |
title_sort | oxford desk reference clinical genetics |
topic | Génétique médicale - Guides, manuels, etc Medische genetica gtt Medical genetics Handbooks, manuals, etc Genetics, Medical Handbooks Chromosome Aberrations Handbooks Genetic Diseases, Inborn Handbooks Genetic Predisposition to Disease Handbooks Humangenetik (DE-588)4072653-8 gnd Erbkrankheit (DE-588)4015106-2 gnd |
topic_facet | Génétique médicale - Guides, manuels, etc Medische genetica Medical genetics Handbooks, manuals, etc Genetics, Medical Handbooks Chromosome Aberrations Handbooks Genetic Diseases, Inborn Handbooks Genetic Predisposition to Disease Handbooks Humangenetik Erbkrankheit Wörterbuch |
url | http://www.loc.gov/catdir/toc/ecip055/2004029397.html http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=013192661&sequence=000008&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
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