The year in human and medical genetics 2009:
Gespeichert in:
| Format: | Buch |
|---|---|
| Sprache: | English |
| Veröffentlicht: |
Boston, Mass.
Blackwell
2009
|
| Schriftenreihe: | Annals of the New York Academy of Sciences
1151 |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | X, 167 S. Ill., graph. Darst. |
| ISBN: | 1573317314 9781573317313 |
Internformat
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Datensatz im Suchindex
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| adam_text | Titel: The year in human and medical genetics 2009
Autor: Smith, Moyra
Jahr: 2009
ANNALS OF THE NEW YORK ACADEMY OF SCIENCES
Volume 1151
The Year in Human and
Medical Genetics 2009
Editor
Moyra Smith
CONTENTS
Preface. By Moyra Smith ix
The Year in Human and Medical Genetics: Highlights of 2007-2008. By Moyra
Smith 1
On the Molecular Etiology of Cornelia de Lange Syndrome. By Dale Dorsett
and Ian D. Krantz 22
Progress in the Understanding of the Genetic Etiology of Vertebral Segmentation
Disorders in Humans. By Philip F. Giampietro, Sally L. Dunwoodie, Kenro
Kusumi, Olivier Pourquie, Olivier Tassy, Amaka C. Offiah, Alberto S.
Cornier, Benjamin A. Alman, Robert D. Blank, Cathleen L. Raggio, Ingrid
Glurich, and Peter D. Turnpenny 38
Chimerism in Black Southern African Patients with True Hermaphroditism
46,XX/47XY, +21 and 46,XX/46,XY By M. Ramsay, W. Pfaffenzeller,
E. Kotze, L. Bhengu, F. Essop, and T. de Ravel 68
Combined Tarsal and Carpal Tunnel Syndrome in Mucolipidosis Type III:
A Case Study and Review. By Izelle Smuts, Denise Potgieter, and Francois
Hendrikus van der Westhuizen 77
Clinical Characteristics of an Afrikaner Founder Population Recruited for a
Schizophrenia Genetic Study. By Johannes Lodewikus Roos, Herman Walter
Pretorius, and Maria Karayiorgou 85
Nuclear and Mitochondrial Genome Defects in Autisms. By Moyra Smith,
M. Anne Spence, and Pamela Flodman 102
Genetic Calcium Signaling Abnormalities in the Central Nervous System:
Seizures, Migraine, and Autism. By]. Jay Gargus 133
vii
viii Annals of the New York Academy of Sciences
Clinical Utility of Array CGH for the Detection of Chromosomal Imbalances
Associated with Mental Retardation and Multiple Congenital Anomalies. By
Lisa Edelmann and Kurt Hirschhorn 157
Index of Contributors 167
The New York Academy of Sciences believes it has a responsibility to provide an open forum for
discussion of scientific questions. The positions taken by the participants in the reported conferences are
their own and not necessarily those of the Academy. The Academy has no intent to influence legislation
by providing such forums.
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| dewey-tens | 610 - Medicine and health |
| discipline | Medizin |
| format | Book |
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| illustrated | Illustrated |
| indexdate | 2024-07-09T21:38:48Z |
| institution | BVB |
| isbn | 1573317314 9781573317313 |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-017547995 |
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| physical | X, 167 S. Ill., graph. Darst. |
| publishDate | 2009 |
| publishDateSearch | 2009 |
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| publisher | Blackwell |
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| series | Annals of the New York Academy of Sciences |
| series2 | Annals of the New York Academy of Sciences |
| spelling | The year in human and medical genetics 2009 ed. by Moyra Smith Boston, Mass. Blackwell 2009 X, 167 S. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Annals of the New York Academy of Sciences 1151 Genetic disorders Genetics, Medical Human genetics Medical genetics Humangenetik (DE-588)4072653-8 gnd rswk-swf Humangenetik (DE-588)4072653-8 s DE-604 Smith, Moyra 1939- Sonstige (DE-588)136104649 oth Annals of the New York Academy of Sciences 1151 (DE-604)BV002532608 1151 HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=017547995&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | The year in human and medical genetics 2009 Annals of the New York Academy of Sciences Genetic disorders Genetics, Medical Human genetics Medical genetics Humangenetik (DE-588)4072653-8 gnd |
| subject_GND | (DE-588)4072653-8 |
| title | The year in human and medical genetics 2009 |
| title_auth | The year in human and medical genetics 2009 |
| title_exact_search | The year in human and medical genetics 2009 |
| title_full | The year in human and medical genetics 2009 ed. by Moyra Smith |
| title_fullStr | The year in human and medical genetics 2009 ed. by Moyra Smith |
| title_full_unstemmed | The year in human and medical genetics 2009 ed. by Moyra Smith |
| title_short | The year in human and medical genetics 2009 |
| title_sort | the year in human and medical genetics 2009 |
| topic | Genetic disorders Genetics, Medical Human genetics Medical genetics Humangenetik (DE-588)4072653-8 gnd |
| topic_facet | Genetic disorders Genetics, Medical Human genetics Medical genetics Humangenetik |
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