Molecular Syndromology,volume 4,issue 3  (01-2013)

Period of time： 2013年3期

Publisher： Karger

Founded in： 2010

Total resources： 43

E-ISSN： 1661-8777|4|3

ISSN： 1661-8769

Subject： Q3 Genetics

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Molecular Syndromology,volume 4,issue 3

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Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations

Molecular Syndromology,volume 4,issue 3 , Vol. 4, Iss. 3, 2012-10 , pp. 107-113

Karger

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X Chromosome-Inactivation Patterns in 31 Individuals with PHACE Syndrome

Molecular Syndromology,volume 4,issue 3 , Vol. 4, Iss. 3, 2012-11 , pp. 114-118

Karger

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Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion in ACVRL1 Suggests the Causing Mechanism

Molecular Syndromology,volume 4,issue 3 , Vol. 4, Iss. 3, 2013-02 , pp. 119-124

Karger

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The c.7409G>A (p.Cys2470Tyr) Variant of FBN1: Phenotypic Variability across Three Generations

Molecular Syndromology,volume 4,issue 3 , Vol. 4, Iss. 3, 2013-02 , pp. 125-135

Karger

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Report on a Patient with a 12q24.31 Microdeletion Inherited from an Insulin-Dependent Diabetes Mellitus Father

Molecular Syndromology,volume 4,issue 3 , Vol. 4, Iss. 3, 2013-01 , pp. 136-142

Karger

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A 1.3-Mb 7q11.23 Atypical Deletion Identified in a Cohort of Patients with Williams-Beuren Syndrome

Molecular Syndromology,volume 4,issue 3 , Vol. 4, Iss. 3, 2013-02 , pp. 143-147

Karger

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COL2A1 Mutation in Spondylometaphyseal Dysplasia Algerian Type

Molecular Syndromology,volume 4,issue 3 , Vol. 4, Iss. 3, 2013-01 , pp. 148-151

Karger

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Report of the First Clinical Case of a Moroccan Kabuki Patient with a Novel MLL2 Mutation

Molecular Syndromology,volume 4,issue 3 , Vol. 4, Iss. 3, 2013-01 , pp. 152-156

Karger

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Total 8 item(s)