Molecular Syndromology,volume 8,issue 4  (05-2017)

Period of time： 2017年4期

Publisher： Karger

Founded in： 2010

Total resources： 43

E-ISSN： 1661-8777|8|4

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 8,issue 4

Menu

The Age of the Father

Molecular Syndromology,volume 8,issue 4 , Vol. 8, Iss. 4, 2017-04 , pp. 169-171

Karger

Abstract Access to resources Recommend Favorite

Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View

Molecular Syndromology,volume 8,issue 4 , Vol. 8, Iss. 4, 2017-04 , pp. 172-178

Karger

Abstract Access to resources Recommend Favorite

Novel Mutations in the Crystallin Gene in Age-Related Cataract Patients from a North Indian Population

Molecular Syndromology,volume 8,issue 4 , Vol. 8, Iss. 4, 2017-04 , pp. 179-186

Karger

Abstract Access to resources Recommend Favorite

Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes

Molecular Syndromology,volume 8,issue 4 , Vol. 8, Iss. 4, 2017-06 , pp. 187-194

Karger

Abstract Access to resources Recommend Favorite

A Novel Pathogenic Variant in the MITF Gene Segregating with a Unique Spectrum of Ocular Findings in an Extended Iranian Waardenburg Syndrome Kindred

Molecular Syndromology,volume 8,issue 4 , Vol. 8, Iss. 4, 2017-05 , pp. 195-200

Karger

Abstract Access to resources Recommend Favorite

ADULT Phenotype and rs16864880 in the TP63 Gene: Two New Cases and Review of the Literature

Molecular Syndromology,volume 8,issue 4 , Vol. 8, Iss. 4, 2017-04 , pp. 201-205

Karger

Abstract Access to resources Recommend Favorite

Cantú Syndrome Associated with Ovarian Agenesis

Molecular Syndromology,volume 8,issue 4 , Vol. 8, Iss. 4, 2017-05 , pp. 206-210

Karger

Abstract Access to resources Recommend Favorite

A Novel Partial Duplication of ZEB2 and Review of ZEB2 Involvement in Mowat-Wilson Syndrome

Molecular Syndromology,volume 8,issue 4 , Vol. 8, Iss. 4, 2017-05 , pp. 211-218

Karger

Abstract Access to resources Recommend Favorite

Severe Neurological Phenotype in a Girl with Xp22.31 Triplication

Molecular Syndromology,volume 8,issue 4 , Vol. 8, Iss. 4, 2017-05 , pp. 219-223

Karger

Abstract Access to resources Recommend Favorite

Total 9 item(s)