Molecular Syndromology,volume 6,issue 2  (03-2015)

Period of time： 2015年2期

Publisher： Karger

Founded in： 2010

Total resources： 43

E-ISSN： 1661-8777|6|2

ISSN： 1661-8769

Subject： Q3 Genetics

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Molecular Syndromology,volume 6,issue 2

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Gene Fusion due to Chromosome Misconnection May Seriously Affect Your Health

Molecular Syndromology,volume 6,issue 2 , Vol. 6, Iss. 2, 2015-03 , pp. 55-57

Karger

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MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects

Molecular Syndromology,volume 6,issue 2 , Vol. 6, Iss. 2, 2015-03 , pp. 58-62

Karger

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Two New Cases of 1p21.3 Deletions and an Unbalanced Translocation t(8;12) among Individuals with Syndromic Obesity

Molecular Syndromology,volume 6,issue 2 , Vol. 6, Iss. 2, 2015-01 , pp. 63-70

Karger

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Phenotypic Variability Associated with a Large Recurrent 1q21.1 Microduplication in a Three-Generation Family

Molecular Syndromology,volume 6,issue 2 , Vol. 6, Iss. 2, 2015-06 , pp. 71-76

Karger

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Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia

Molecular Syndromology,volume 6,issue 2 , Vol. 6, Iss. 2, 2015-06 , pp. 77-82

Karger

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Cleidocranial Dysplasia with Normal Clavicles: A Report of a Novel Genotype and a Review of Seven Previous Cases

Molecular Syndromology,volume 6,issue 2 , Vol. 6, Iss. 2, 2015-02 , pp. 83-86

Karger

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Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome

Molecular Syndromology,volume 6,issue 2 , Vol. 6, Iss. 2, 2015-05 , pp. 87-90

Karger

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Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome

Molecular Syndromology,volume 6,issue 2 , Vol. 6, Iss. 2, 2015-05 , pp. 91-95

Karger

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Exome Sequencing of a Family with Bardet-Biedl Syndrome Identifies the Common Russian Mutation c.1967_1968delTAinsC in BBS7

Molecular Syndromology,volume 6,issue 2 , Vol. 6, Iss. 2, 2015-01 , pp. 96-98

Karger

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Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome

Molecular Syndromology,volume 6,issue 2 , Vol. 6, Iss. 2, 2015-03 , pp. 99-103

Karger

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