Molecular Syndromology,volume 8,issue 2  (12-2016)

Period of time： 2016年2期

Publisher： Karger

Founded in： 2010

Total resources： 43

E-ISSN： 1661-8777|8|2

ISSN： 1661-8769

Subject： Q3 Genetics

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Molecular Syndromology,volume 8,issue 2

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Retrotransposing Gremlins May Disrupt Our Brain's Genomes

Molecular Syndromology,volume 8,issue 2 , Vol. 8, Iss. 2, 2016-12 , pp. 55-57

Karger

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Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis

Molecular Syndromology,volume 8,issue 2 , Vol. 8, Iss. 2, 2017-02 , pp. 58-78

Karger

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A Novel Heterozygous Intragenic Sequence Variant in DLX6 Probably Underlies First Case of Autosomal Dominant Split-Hand/Foot Malformation Type 1

Molecular Syndromology,volume 8,issue 2 , Vol. 8, Iss. 2, 2016-12 , pp. 79-84

Karger

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Hippocampal Characteristics and Invariant Sequence Elements Distribution of GLRA2 and GLRA3 C-to-U Editing

Molecular Syndromology,volume 8,issue 2 , Vol. 8, Iss. 2, 2016-12 , pp. 85-92

Karger

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Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family

Molecular Syndromology,volume 8,issue 2 , Vol. 8, Iss. 2, 2017-01 , pp. 93-97

Karger

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Familial 5q12.3 Microdeletion: Evidence for a Locus Associated with Epilepsy

Molecular Syndromology,volume 8,issue 2 , Vol. 8, Iss. 2, 2017-01 , pp. 98-102

Karger

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First Two Cases of Bloom Syndrome in Russia: Lack of Skin Manifestations in a BLM c.1642C>T (p.Q548X) Homozygote as a Likely Cause of Underdiagnosis

Molecular Syndromology,volume 8,issue 2 , Vol. 8, Iss. 2, 2017-01 , pp. 103-106

Karger

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A Novel Mutation in PITX2 in a Patient with Axenfeld-Rieger Syndrome

Molecular Syndromology,volume 8,issue 2 , Vol. 8, Iss. 2, 2017-01 , pp. 107-109

Karger

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A Female Patient with FMR1 Premutation and Mosaic X Chromosome Aneuploidy and Two Sons with Intellectual Disability

Molecular Syndromology,volume 8,issue 2 , Vol. 8, Iss. 2, 2016-12 , pp. 110-114

Karger

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Total 9 item(s)