Molecular Syndromology,volume 2,issue 6  (04-2012)

Period of time： 2012年6期

Publisher： Karger

Founded in： 2010

Total resources： 43

E-ISSN： 1661-8777|2|6

ISSN： 1661-8769

Subject： Q3 Genetics

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Molecular Syndromology,volume 2,issue 6

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Contents Vol. 2, 2011

Molecular Syndromology,volume 2,issue 6 , Vol. 2, Iss. 6, 2012-04 , pp. I-IV

Karger

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In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome

Molecular Syndromology,volume 2,issue 6 , Vol. 2, Iss. 6, 2012-03 , pp. 237-244

Karger

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A 380-kb Duplication in 7p22.3 Encompassing the LFNG Gene in a Boy with Asperger Syndrome

Molecular Syndromology,volume 2,issue 6 , Vol. 2, Iss. 6, 2012-02 , pp. 245-250

Karger

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LEOPARD Syndrome Caused by Tyr279Cys Mutation in the PTPN11 Gene

Molecular Syndromology,volume 2,issue 6 , Vol. 2, Iss. 6, 2012-01 , pp. 251-253

Karger

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Novel Compound Heterozygous Mutations in the Cathepsin K Gene in Japanese Female Siblings with Pyknodysostosis

Molecular Syndromology,volume 2,issue 6 , Vol. 2, Iss. 6, 2012-03 , pp. 254-258

Karger

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Delayed Diagnosis of Potocki-Shaffer Syndrome in a Woman with Multiple Exostoses and Mental Retardation

Molecular Syndromology,volume 2,issue 6 , Vol. 2, Iss. 6, 2012-04 , pp. 259-261

Karger

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RE(ACT)® International Congress on Research on Rare and Orphan Diseases

Molecular Syndromology,volume 2,issue 6 , Vol. 2, Iss. 6, 2012-04 , pp. 262-288

Karger

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Total 7 item(s)