Molecular Syndromology,volume 3,issue 6  (12-2012)

Period of time： 2012年6期

Publisher： Karger

Founded in： 2010

Total resources： 43

E-ISSN： 1661-8777|3|6

ISSN： 1661-8769

Subject： Q3 Genetics

Favorite

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Molecular Syndromology,volume 3,issue 6

Menu

Contents Vol. 3, 2012

Molecular Syndromology,volume 3,issue 6 , Vol. 3, Iss. 6, 2013-01 , pp. I-IV

Karger

Abstract Access to resources Recommend Favorite

Genetics and Epigenetics Collide at HDAC8 in Region Xq13.1

Molecular Syndromology,volume 3,issue 6 , Vol. 3, Iss. 6, 2012-10 , pp. 245-246

Karger

Abstract Access to resources Recommend Favorite

Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly

Molecular Syndromology,volume 3,issue 6 , Vol. 3, Iss. 6, 2013-01 , pp. 247-254

Karger

Abstract Access to resources Recommend Favorite

A Novel Aberrant Splice Site Mutation in RAB23 Leads to an Eight Nucleotide Deletion in the mRNA and Is Responsible for Carpenter Syndrome in a Consanguineous Emirati Family

Molecular Syndromology,volume 3,issue 6 , Vol. 3, Iss. 6, 2012-12 , pp. 255-261

Karger

Abstract Access to resources Recommend Favorite

Live-Born Trisomy 22: Patient Report and Review

Molecular Syndromology,volume 3,issue 6 , Vol. 3, Iss. 6, 2013-01 , pp. 262-269

Karger

Abstract Access to resources Recommend Favorite

Segmental Maternal UPD6 with Prenatal Growth Restriction

Molecular Syndromology,volume 3,issue 6 , Vol. 3, Iss. 6, 2012-11 , pp. 270-273

Karger

Abstract Access to resources Recommend Favorite

Gain of FAM123B and ARHGEF9 in an Obese Man with Intellectual Disability, Congenital Heart Defects and Multiple Supernumerary Ring Chromosomes

Molecular Syndromology,volume 3,issue 6 , Vol. 3, Iss. 6, 2012-11 , pp. 274-283

Karger

Abstract Access to resources Recommend Favorite

Genotyping FOXG1 Mutations in Patients with Clinical Evidence of the FOXG1 Syndrome

Molecular Syndromology,volume 3,issue 6 , Vol. 3, Iss. 6, 2012-12 , pp. 284-287

Karger

Abstract Access to resources Recommend Favorite

Identification of Two Novel ERCC6 Mutations in Old Order Amish with Cockayne Syndrome

Molecular Syndromology,volume 3,issue 6 , Vol. 3, Iss. 6, 2012-12 , pp. 288-290

Karger

Abstract Access to resources Recommend Favorite

Total 9 item(s)