Molecular Syndromology,volume 5,issue 2  (02-2014)

Period of time： 2014年2期

Publisher： Karger

Founded in： 2010

Total resources： 43

E-ISSN： 1661-8777|5|2

ISSN： 1661-8769

Subject： Q3 Genetics

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Molecular Syndromology,volume 5,issue 2

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Enhancing the Incidental Pipeline in Genomic Sequencing

Molecular Syndromology,volume 5,issue 2 , Vol. 5, Iss. 2, 2014-01 , pp. 47-50

Karger

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Update on the Genetics of Bardet-Biedl Syndrome

Molecular Syndromology,volume 5,issue 2 , Vol. 5, Iss. 2, 2013-12 , pp. 51-56

Karger

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Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions

Molecular Syndromology,volume 5,issue 2 , Vol. 5, Iss. 2, 2014-01 , pp. 57-64

Karger

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Microdeletions Including FMR1 in Three Female Patients with Intellectual Disability - Further Delineation of the Phenotype and Expression Studies

Molecular Syndromology,volume 5,issue 2 , Vol. 5, Iss. 2, 2014-01 , pp. 65-75

Karger

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Decreased Expression of Genes Associated with Memory and X-Linked Mental Retardation in Boys with Non-Syndromic Cryptorchidism and High Infertility Risk

Molecular Syndromology,volume 5,issue 2 , Vol. 5, Iss. 2, 2014-01 , pp. 76-80

Karger

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Novel indel Mutation in the GDF5 Gene Is Associated with Brachydactyly Type C in a Four-Generation Turkish Family

Molecular Syndromology,volume 5,issue 2 , Vol. 5, Iss. 2, 2014-01 , pp. 81-86

Karger

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RE(ACT)2014 Rare Diseases. 2nd International Congress on Research of Rare and Orphan Diseases. 5th to 8th March 2014, Gehry Building, Novartis Campus, Basel: Abstracts

Molecular Syndromology,volume 5,issue 2 , Vol. 5, Iss. 2, 2014-02 , pp. 87-99

Karger

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Total 7 item(s)