Molecular Syndromology,volume 5,issue 5  (08-2014)

Period of time： 2014年5期

Publisher： Karger

Founded in： 2010

Total resources： 43

E-ISSN： 1661-8777|5|5

ISSN： 1661-8769

Subject： Q3 Genetics

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Molecular Syndromology,volume 5,issue 5

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What a Difference an ERCC1 or ERCC4 (XPF) Mutation Makes!

Molecular Syndromology,volume 5,issue 5 , Vol. 5, Iss. 5, 2014-02 , pp. 199-200

Karger

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Fibrodysplasia Ossificans Progressiva: Clinical Course, Genetic Mutations and Genotype-Phenotype Correlation

Molecular Syndromology,volume 5,issue 5 , Vol. 5, Iss. 5, 2014-08 , pp. 201-211

Karger

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Clinical and Molecular Findings of Tunisian Patients with RASopathies

Molecular Syndromology,volume 5,issue 5 , Vol. 5, Iss. 5, 2014-05 , pp. 212-217

Karger

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Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis

Molecular Syndromology,volume 5,issue 5 , Vol. 5, Iss. 5, 2014-07 , pp. 218-228

Karger

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A Candidate Gene Association Study Further Corroborates Involvement of Contactin Genes in Autism

Molecular Syndromology,volume 5,issue 5 , Vol. 5, Iss. 5, 2014-05 , pp. 229-235

Karger

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A Novel Fibrillin 1 Gene Mutation Leading to Marfan Syndrome with Minimal Cardiac Features

Molecular Syndromology,volume 5,issue 5 , Vol. 5, Iss. 5, 2014-02 , pp. 236-240

Karger

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A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation

Molecular Syndromology,volume 5,issue 5 , Vol. 5, Iss. 5, 2014-08 , pp. 241-244

Karger

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A Novel (Paternally Inherited) Duplication 13q31.3q32.3 in a 12-Year-Old Patient with Facial Dysmorphism and Developmental Delay

Molecular Syndromology,volume 5,issue 5 , Vol. 5, Iss. 5, 2014-02 , pp. 245-250

Karger

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Evidence of Germline Mosaicism for a Novel BCOR Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome

Molecular Syndromology,volume 5,issue 5 , Vol. 5, Iss. 5, 2014-08 , pp. 251-256

Karger

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Total 9 item(s)