Molecular Syndromology,volume 1,issue 2  (08-2010)

Period of time： 2010年2期

Publisher： Karger

Founded in： 2010

Total resources： 43

E-ISSN： 1661-8777|1|2

ISSN： 1661-8769

Subject： Q3 Genetics

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Molecular Syndromology,volume 1,issue 2

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A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans

Molecular Syndromology,volume 1,issue 2 , Vol. 1, Iss. 2, 2010-04 , pp. 59-66

Karger

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IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign

Molecular Syndromology,volume 1,issue 2 , Vol. 1, Iss. 2, 2010-06 , pp. 67-74

Karger

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Interstitial Deletions at 6q14.1–q15 Associated with Obesity, Developmental Delay and a Distinct Clinical Phenotype

Molecular Syndromology,volume 1,issue 2 , Vol. 1, Iss. 2, 2010-06 , pp. 75-81

Karger

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Persistent Fetal Vasculature and Severe Protein C Deficiency

Molecular Syndromology,volume 1,issue 2 , Vol. 1, Iss. 2, 2010-04 , pp. 82-86

Karger

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Identical Mutation in SH3BP2 Gene Causes Clinical Phenotypes with Different Severity in Mother and Daughter – Case Report

Molecular Syndromology,volume 1,issue 2 , Vol. 1, Iss. 2, 2010-06 , pp. 87-90

Karger

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Juvenile Muscular Atrophy of a Unilateral Upper Extremity (Hirayama Disease) in a Patient with CHARGE Syndrome

Molecular Syndromology,volume 1,issue 2 , Vol. 1, Iss. 2, 2010-06 , pp. 91-94

Karger

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Cri-du-Chat Syndrome Cytogenetically Cryptic Recombination Aneusomy of Chromosome 5: Implications in Recurrence Risk Estimation

Molecular Syndromology,volume 1,issue 2 , Vol. 1, Iss. 2, 2010-08 , pp. 95-98

Karger

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Total 7 item(s)