Molecular Syndromology,volume 7,issue 1  (03-2016)

Period of time： 2016年1期

Publisher： Karger

Founded in： 2010

Total resources： 43

E-ISSN： 1661-8777|7|1

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 7,issue 1

Menu

A Loss or a Gain, Is It Not All the Same

Molecular Syndromology,volume 7,issue 1 , Vol. 7, Iss. 1, 2016-02 , pp. 1-2

Karger

Abstract Access to resources Recommend Favorite

SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature

Molecular Syndromology,volume 7,issue 1 , Vol. 7, Iss. 1, 2016-03 , pp. 3-11

Karger

Abstract Access to resources Recommend Favorite

Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects

Molecular Syndromology,volume 7,issue 1 , Vol. 7, Iss. 1, 2016-03 , pp. 12-18

Karger

Abstract Access to resources Recommend Favorite

Short Stature in Isodicentric Y Chromosome and Three Copies of the SHOX Gene: Clinical Report and Review of Literature

Molecular Syndromology,volume 7,issue 1 , Vol. 7, Iss. 1, 2016-03 , pp. 19-25

Karger

Abstract Access to resources Recommend Favorite

A Novel ECM1 Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature

Molecular Syndromology,volume 7,issue 1 , Vol. 7, Iss. 1, 2016-03 , pp. 26-31

Karger

Abstract Access to resources Recommend Favorite

A Family with Craniofrontonasal Syndrome and a Mutation (p.G151S) in the EFNB1 Gene: Expanding the Phenotype

Molecular Syndromology,volume 7,issue 1 , Vol. 7, Iss. 1, 2016-03 , pp. 32-36

Karger

Abstract Access to resources Recommend Favorite

X-Linked Candidate Genes for a Ciliopathy-Like Disorder

Molecular Syndromology,volume 7,issue 1 , Vol. 7, Iss. 1, 2016-03 , pp. 37-42

Karger

Abstract Access to resources Recommend Favorite

Interstitial Chromosome 3p14.1 Deletion due to a Maternal Insertion: Phenotype and Association with Balanced Parental Rearrangement

Molecular Syndromology,volume 7,issue 1 , Vol. 7, Iss. 1, 2016-03 , pp. 43-48

Karger

Abstract Access to resources Recommend Favorite

Total 8 item(s)