Molecular Syndromology,volume 3,issue 1  (05-2012)

Period of time： 2012年1期

Publisher： Karger

Founded in： 2010

Total resources： 43

E-ISSN： 1661-8777|3|1

ISSN： 1661-8769

Subject： Q3 Genetics

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Molecular Syndromology,volume 3,issue 1

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Genetic Overlap between Holoprosencephaly and Kallmann Syndrome

Molecular Syndromology,volume 3,issue 1 , Vol. 3, Iss. 1, 2012-05 , pp. 1-5

Karger

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Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin

Molecular Syndromology,volume 3,issue 1 , Vol. 3, Iss. 1, 2012-06 , pp. 6-13

Karger

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Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills

Molecular Syndromology,volume 3,issue 1 , Vol. 3, Iss. 1, 2012-05 , pp. 14-20

Karger

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Identification of a New Mutation (L46P) in the Human NOG Gene in an Italian Patient with Symphalangism Syndrome

Molecular Syndromology,volume 3,issue 1 , Vol. 3, Iss. 1, 2012-04 , pp. 21-24

Karger

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Identification of a Novel 14q13.3 Deletion Involving the SLC25A21 Gene Associated with Familial Synpolydactyly

Molecular Syndromology,volume 3,issue 1 , Vol. 3, Iss. 1, 2012-06 , pp. 25-29

Karger

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Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome

Molecular Syndromology,volume 3,issue 1 , Vol. 3, Iss. 1, 2012-05 , pp. 30-33

Karger

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NRAS Mutations in Noonan Syndrome

Molecular Syndromology,volume 3,issue 1 , Vol. 3, Iss. 1, 2012-05 , pp. 34-38

Karger

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Interstitial 4q Deletion and Isodicentric Y-Chromosome in a Patient with Dysmorphic Features

Molecular Syndromology,volume 3,issue 1 , Vol. 3, Iss. 1, 2012-05 , pp. 39-43

Karger

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Total 8 item(s)