Molecular Syndromology,volume 5,issue 1  (11-2013)

Period of time： 2013年1期

Publisher： Karger

Founded in： 2010

Total resources： 43

E-ISSN： 1661-8777|5|1

ISSN： 1661-8769

Subject： Q3 Genetics

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Molecular Syndromology,volume 5,issue 1

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Late Breaking Chromosomes

Molecular Syndromology,volume 5,issue 1 , Vol. 5, Iss. 1, 2013-11 , pp. 1-2

Karger

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Disruption of the ATE1 and SLC12A1 Genes by Balanced Translocation in a Boy with Non-Syndromic Hearing Loss

Molecular Syndromology,volume 5,issue 1 , Vol. 5, Iss. 1, 2013-10 , pp. 3-10

Karger

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A de novo 11p13 Microduplication in a Patient with Some Features Invoking Silver-Russell Syndrome

Molecular Syndromology,volume 5,issue 1 , Vol. 5, Iss. 1, 2013-11 , pp. 11-18

Karger

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A Boy with an LCR3/4-Flanked 10q22.3q23.2 Microdeletion and Uncommon Phenotypic Features

Molecular Syndromology,volume 5,issue 1 , Vol. 5, Iss. 1, 2013-11 , pp. 19-24

Karger

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Currarino Syndrome and HPE Microform Associated with a 2.7-Mb Deletion in 7q36.3 Excluding SHH Gene

Molecular Syndromology,volume 5,issue 1 , Vol. 5, Iss. 1, 2013-10 , pp. 25-31

Karger

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A de novo POU3F3 Deletion in a Boy with Intellectual Disability and Dysmorphic Features

Molecular Syndromology,volume 5,issue 1 , Vol. 5, Iss. 1, 2013-11 , pp. 32-35

Karger

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Novel Frameshift CHD7 Mutation Related to CHARGE Syndrome

Molecular Syndromology,volume 5,issue 1 , Vol. 5, Iss. 1, 2013-10 , pp. 36-40

Karger

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Maternal Hypomethylation of KvDMR in a Monozygotic Male Twin Pair Discordant for Beckwith-Wiedemann Syndrome

Molecular Syndromology,volume 5,issue 1 , Vol. 5, Iss. 1, 2013-11 , pp. 41-46

Karger

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Total 8 item(s)