Molecular Syndromology,volume 6,issue 1  (02-2015)

Period of time： 2015年1期

Publisher： Karger

Founded in： 2010

Total resources： 43

E-ISSN： 1661-8777|6|1

ISSN： 1661-8769

Subject： Q3 Genetics

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Molecular Syndromology,volume 6,issue 1

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SHANK Mutations May Disorder Brain Development

Molecular Syndromology,volume 6,issue 1 , Vol. 6, Iss. 1, 2014-10 , pp. 1-3

Karger

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Genomic Sequencing and the Impact of Molecular Diagnosis on Patient Care

Molecular Syndromology,volume 6,issue 1 , Vol. 6, Iss. 1, 2015-01 , pp. 4-6

Karger

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Connecting the CNTNAP2 Networks with Neurodevelopmental Disorders

Molecular Syndromology,volume 6,issue 1 , Vol. 6, Iss. 1, 2015-02 , pp. 7-22

Karger

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Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective

Molecular Syndromology,volume 6,issue 1 , Vol. 6, Iss. 1, 2015-02 , pp. 23-31

Karger

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Clinical and Molecular Heterogeneity in Brazilian Patients with Sotos Syndrome

Molecular Syndromology,volume 6,issue 1 , Vol. 6, Iss. 1, 2015-01 , pp. 32-38

Karger

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Cleft Lip/Palate, Short Stature, and Developmental Delay in a Boy with a 5.6-Mb Interstitial Deletion Involving 10p15.3p14

Molecular Syndromology,volume 6,issue 1 , Vol. 6, Iss. 1, 2015-01 , pp. 39-43

Karger

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A Novel Mutation in the Endothelin B Receptor Gene in a Moroccan Family with Shah-Waardenburg Syndrome

Molecular Syndromology,volume 6,issue 1 , Vol. 6, Iss. 1, 2015-01 , pp. 44-49

Karger

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A Glutamine Repeat Variant of the RUNX2 Gene Causes Cleidocranial Dysplasia

Molecular Syndromology,volume 6,issue 1 , Vol. 6, Iss. 1, 2015-01 , pp. 50-53

Karger

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Total 8 item(s)