Molecular Syndromology,volume 4,issue 4  (02-2013)

Period of time： 2013年4期

Publisher： Karger

Founded in： 2010

Total resources： 43

E-ISSN： 1661-8777|4|4

ISSN： 1661-8769

Subject： Q3 Genetics

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Molecular Syndromology,volume 4,issue 4

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Genotypes and Phenotypes of 162 Families with a Glomulin Mutation

Molecular Syndromology,volume 4,issue 4 , Vol. 4, Iss. 4, 2013-03 , pp. 157-164

Karger

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CCM3 Mutations Are Associated with Early-Onset Cerebral Hemorrhage and Multiple Meningiomas

Molecular Syndromology,volume 4,issue 4 , Vol. 4, Iss. 4, 2013-04 , pp. 165-172

Karger

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Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth

Molecular Syndromology,volume 4,issue 4 , Vol. 4, Iss. 4, 2013-04 , pp. 173-178

Karger

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Variable Somatic TIE2 Mutations in Half of Sporadic Venous Malformations

Molecular Syndromology,volume 4,issue 4 , Vol. 4, Iss. 4, 2013-03 , pp. 179-183

Karger

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Directional Next-Generation RNA Sequencing and Examination of Premature Termination Codon Mutations in Endoglin/Hereditary Haemorrhagic Telangiectasia

Molecular Syndromology,volume 4,issue 4 , Vol. 4, Iss. 4, 2013-04 , pp. 184-196

Karger

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Aicardi Syndrome Associated with Autosomal Genomic Imbalance: Coincidence or Evidence for Autosomal Inheritance with Sex-Limited Expression?

Molecular Syndromology,volume 4,issue 4 , Vol. 4, Iss. 4, 2013-04 , pp. 197-202

Karger

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Mucopolysaccharidosis Type II and the G374sp Mutation

Molecular Syndromology,volume 4,issue 4 , Vol. 4, Iss. 4, 2013-02 , pp. 203-206

Karger

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Alagille Syndrome: A New Missense Mutation Detected by Whole-Exome Sequencing in a Case Previously Found to Be Negative by DHPLC and MLPA

Molecular Syndromology,volume 4,issue 4 , Vol. 4, Iss. 4, 2013-02 , pp. 207-210

Karger

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Total 8 item(s)