Molecular Syndromology,volume 7,issue 2  (04-2016)

Period of time： 2016年2期

Publisher： Karger

Founded in： 2010

Total resources： 43

E-ISSN： 1661-8777|7|2

ISSN： 1661-8769

Subject： Q3 Genetics

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Molecular Syndromology,volume 7,issue 2

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The Growing Complexity of the Monosomy 1p36 Syndrome

Molecular Syndromology,volume 7,issue 2 , Vol. 7, Iss. 2, 2016-03 , pp. 49-50

Karger

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Cytogenomic Aberrations in Congenital Cardiovascular Malformations

Molecular Syndromology,volume 7,issue 2 , Vol. 7, Iss. 2, 2016-04 , pp. 51-61

Karger

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Bardet-Biedl Syndrome

Molecular Syndromology,volume 7,issue 2 , Vol. 7, Iss. 2, 2016-04 , pp. 62-71

Karger

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RASopathies: Presentation at the Genome, Interactome, and Phenome Levels

Molecular Syndromology,volume 7,issue 2 , Vol. 7, Iss. 2, 2016-04 , pp. 72-79

Karger

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Prolidase Deficiency in a Mexican-American Patient Identified by Array CGH Reveals a Novel and the Largest PEPD Gene Deletion

Molecular Syndromology,volume 7,issue 2 , Vol. 7, Iss. 2, 2016-04 , pp. 80-86

Karger

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Whole Exome Sequencing Reveals a Mutation in CRYBB2 in a Large Mexican Family with Autosomal Dominant Pulverulent Cataract

Molecular Syndromology,volume 7,issue 2 , Vol. 7, Iss. 2, 2016-04 , pp. 87-92

Karger

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A New Case of an Extremely Rare 3p21.31 Interstitial Deletion

Molecular Syndromology,volume 7,issue 2 , Vol. 7, Iss. 2, 2016-04 , pp. 93-98

Karger

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Total 7 item(s)