Molecular Syndromology,volume 1,issue 5  (05-2011)

Period of time： 2011年5期

Publisher： Karger

Founded in： 2010

Total resources： 43

E-ISSN： 1661-8777|1|5

ISSN： 1661-8769

Subject： Q3 Genetics

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Molecular Syndromology,volume 1,issue 5

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TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype

Molecular Syndromology,volume 1,issue 5 , Vol. 1, Iss. 5, 2011-05 , pp. 211-222

Karger

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CDH3-Related Syndromes: Report on a New Mutation and Overview of the Genotype-Phenotype Correlations

Molecular Syndromology,volume 1,issue 5 , Vol. 1, Iss. 5, 2011-04 , pp. 223-230

Karger

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Severe Myoclonic Epilepsy in Infancy – Adult Phenotype with Bradykinesia, Hypomimia, and Perseverative Behavior: Report of Five Cases

Molecular Syndromology,volume 1,issue 5 , Vol. 1, Iss. 5, 2011-03 , pp. 231-238

Karger

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Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome

Molecular Syndromology,volume 1,issue 5 , Vol. 1, Iss. 5, 2011-05 , pp. 239-245

Karger

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Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications

Molecular Syndromology,volume 1,issue 5 , Vol. 1, Iss. 5, 2011-05 , pp. 246-254

Karger

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FOXD1 Duplication Causes Branchial Defects and Interacts with the TFAP2A Gene Implicated in the Branchio-Oculo-Facial Syndrome in Causing Eye Effects in Zebrafish

Molecular Syndromology,volume 1,issue 5 , Vol. 1, Iss. 5, 2011-05 , pp. 255-261

Karger

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Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1

Molecular Syndromology,volume 1,issue 5 , Vol. 1, Iss. 5, 2011-05 , pp. 262-271

Karger

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Total 7 item(s)