Molecular Syndromology,volume 3,issue 3  (07-2012)

Period of time： 2012年3期

Publisher： Karger

Founded in： 2010

Total resources： 43

E-ISSN： 1661-8777|3|3

ISSN： 1661-8769

Subject： Q3 Genetics

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Molecular Syndromology,volume 3,issue 3

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Chromothripsis Challenges the Germline

Molecular Syndromology,volume 3,issue 3 , Vol. 3, Iss. 3, 2012-07 , pp. 99-101

Karger

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Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions

Molecular Syndromology,volume 3,issue 3 , Vol. 3, Iss. 3, 2012-08 , pp. 102-112

Karger

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A Diagnostic Algorithm for Mitochondrial Disorders in Estonian Children

Molecular Syndromology,volume 3,issue 3 , Vol. 3, Iss. 3, 2012-07 , pp. 113-119

Karger

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Shared Copy Number Variation in Simultaneous Nephroblastoma and Neuroblastoma due to Fanconi Anemia

Molecular Syndromology,volume 3,issue 3 , Vol. 3, Iss. 3, 2012-08 , pp. 120-130

Karger

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A de novo sSMC(22) Characterized by High-Resolution Arrays in a Girl with Cat-Eye Syndrome without Coloboma

Molecular Syndromology,volume 3,issue 3 , Vol. 3, Iss. 3, 2012-08 , pp. 131-135

Karger

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MOTA Syndrome: Molecular Genetic Confirmation of the Diagnosis in a Newborn with Previously Unreported Clinical Features

Molecular Syndromology,volume 3,issue 3 , Vol. 3, Iss. 3, 2012-07 , pp. 136-139

Karger

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High Intellectual Function in Individuals with Mutation-Positive Microform Holoprosencephaly

Molecular Syndromology,volume 3,issue 3 , Vol. 3, Iss. 3, 2012-07 , pp. 140-142

Karger

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Total 7 item(s)