Molecular Syndromology,volume 6,issue 4  (0-2015)

Period of time： 2015年4期

Publisher： Karger

Founded in： 2010

Total resources： 43

E-ISSN： 1661-8777|6|4

ISSN： 1661-8769

Subject： Q3 Genetics

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Molecular Syndromology,volume 6,issue 4

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To NIPT or Not to NIPT

Molecular Syndromology,volume 6,issue 4 , Vol. 6, Iss. 4, 2015-0 , pp. 153-155

Karger

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A Novel de novo Mutation in CEACAM16 Associated with Postlingual Hearing Impairment

Molecular Syndromology,volume 6,issue 4 , Vol. 6, Iss. 4, 2015-0 , pp. 156-163

Karger

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Clinical and Molecular Characterization of Osteogenesis Imperfecta Type V

Molecular Syndromology,volume 6,issue 4 , Vol. 6, Iss. 4, 2015-0 , pp. 164-172

Karger

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Novel KIF7 Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature

Molecular Syndromology,volume 6,issue 4 , Vol. 6, Iss. 4, 2015-0 , pp. 173-180

Karger

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The PHF6 Mutation c.1A>G; pM1V Causes Börjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys

Molecular Syndromology,volume 6,issue 4 , Vol. 6, Iss. 4, 2015-0 , pp. 181-186

Karger

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Pre- and Postnatal Analysis of Chromosome 1q44 Deletion in Agenesis of Corpus Callosum

Molecular Syndromology,volume 6,issue 4 , Vol. 6, Iss. 4, 2015-0 , pp. 187-192

Karger

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Cytogenetic and Molecular Findings in Children with Acute Lymphoblastic Leukemia: Experience of a Single Institution in Argentina

Molecular Syndromology,volume 6,issue 4 , Vol. 6, Iss. 4, 2015-0 , pp. 193-203

Karger

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Mitochondrial Dysfunction in a Patient with 8q21.11 Deletion and Charcot-Marie-Tooth Disease Type 2K due to GDAP1 Haploinsufficiency

Molecular Syndromology,volume 6,issue 4 , Vol. 6, Iss. 4, 2015-0 , pp. 204-206

Karger

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Total 8 item(s)