Molecular Syndromology,volume 5,issue 6  (11-2014)

Period of time： 2014年6期

Publisher： Karger

Founded in： 2010

Total resources： 43

E-ISSN： 1661-8777|5|6

ISSN： 1661-8769

Subject： Q3 Genetics

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Molecular Syndromology,volume 5,issue 6

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Contents Vol. 5, 2014

Molecular Syndromology,volume 5,issue 6 , Vol. 5, Iss. 6, 2014-12 , pp. I-IV

Karger

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All Humans, Great or Small, Short or Tall

Molecular Syndromology,volume 5,issue 6 , Vol. 5, Iss. 6, 2014-11 , pp. 257-258

Karger

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Common Somatic Alterations Identified in Maffucci Syndrome by Molecular Karyotyping

Molecular Syndromology,volume 5,issue 6 , Vol. 5, Iss. 6, 2014-08 , pp. 259-267

Karger

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Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families

Molecular Syndromology,volume 5,issue 6 , Vol. 5, Iss. 6, 2014-11 , pp. 268-275

Karger

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A Mouse Splice-Site Mutant and Individuals with Atypical Chromosome 22q11.2 Deletions Demonstrate the Crucial Role for Crkl in Craniofacial and Pharyngeal Development

Molecular Syndromology,volume 5,issue 6 , Vol. 5, Iss. 6, 2014-11 , pp. 276-286

Karger

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Challenges in Clinical Diagnosis of Williams-Beuren Syndrome in Sub-Saharan Africans: Case Reports from Cameroon

Molecular Syndromology,volume 5,issue 6 , Vol. 5, Iss. 6, 2014-11 , pp. 287-292

Karger

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A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome

Molecular Syndromology,volume 5,issue 6 , Vol. 5, Iss. 6, 2014-09 , pp. 293-298

Karger

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Dihydropyrimidine Dehydrogenase Deficiency in Two Malaysian Siblings with Abnormal MRI Findings

Molecular Syndromology,volume 5,issue 6 , Vol. 5, Iss. 6, 2014-09 , pp. 299-303

Karger

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A Plakophilin-1 Gene Mutation in an Egyptian Family with Ectodermal Dysplasia-Skin Fragility Syndrome

Molecular Syndromology,volume 5,issue 6 , Vol. 5, Iss. 6, 2014-11 , pp. 304-306

Karger

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Total 9 item(s)