HUMAN MUTATION,volume 36,issue 3  (03-2015)

Period of time： 2015年3期

Publisher： John Wiley & Sons Inc

Founded in： 1992

Total resources： 41

ISSN： 1059-7794

Subject： Q Biological Sciences

Favorite

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

HUMAN MUTATION,volume 36,issue 3

Menu

Contents

HUMAN MUTATION,volume 36,issue 3 , Vol. 36, Iss. 3, 2015-03 , pp. i-iii

John Wiley & Sons Inc

Abstract Access to resources Recommend Favorite

A New Spin on Digenic Inheritance: Retrotransposition in Rotor Syndrome

HUMAN MUTATION,volume 36,issue 3 , Vol. 36, Iss. 3, 2015-03 , pp. v-v

John Wiley & Sons Inc

Abstract Access to resources Recommend Favorite

Can We Afford to Sequence Every Newborn Baby's Genome?

HUMAN MUTATION,volume 36,issue 3 , Vol. 36, Iss. 3, 2015-03 , pp. 283-286

John Wiley & Sons Inc

Abstract Access to resources Recommend Favorite

Novel Mutations in the DYNC1H1 Tail Domain Refine the Genetic and Clinical Spectrum of Dyneinopathies

HUMAN MUTATION,volume 36,issue 3 , Vol. 36, Iss. 3, 2015-03 , pp. 287-291

John Wiley & Sons Inc

Abstract Access to resources Recommend Favorite

Somatic MMR Gene Mutations as a Cause for MSI‐H Sebaceous Neoplasms in Muir–Torre Syndrome‐Like Patients

HUMAN MUTATION,volume 36,issue 3 , Vol. 36, Iss. 3, 2015-03 , pp. 292-295

John Wiley & Sons Inc

Abstract Access to resources Recommend Favorite

Functional Analysis of FOXE3 Mutations Causing Dominant and Recessive Ocular Anterior Segment Disease

HUMAN MUTATION,volume 36,issue 3 , Vol. 36, Iss. 3, 2015-03 , pp. 296-300

John Wiley & Sons Inc

Abstract Access to resources Recommend Favorite

Loss of Function Variants in Human PNPLA8 Encoding Calcium‐Independent Phospholipase A2γ Recapitulate the Mitochondriopathy of the Homologous Null Mouse

HUMAN MUTATION,volume 36,issue 3 , Vol. 36, Iss. 3, 2015-03 , pp. 301-306

John Wiley & Sons Inc

Abstract Access to resources Recommend Favorite

Mutations in CCDC11, which Encodes a Coiled‐Coil Containing Ciliary Protein, Causes Situs Inversus Due to Dysmotility of Monocilia in the Left–Right Organizer

HUMAN MUTATION,volume 36,issue 3 , Vol. 36, Iss. 3, 2015-03 , pp. 307-318

John Wiley & Sons Inc

Abstract Access to resources Recommend Favorite

Benefits and Burdens of Using a SNP Array in Pregnancies at Increased Risk for the Common Aneuploidies

HUMAN MUTATION,volume 36,issue 3 , Vol. 36, Iss. 3, 2015-03 , pp. 319-326

John Wiley & Sons Inc

Abstract Access to resources Recommend Favorite

Recessive Inheritance of Population‐Specific Intronic LINE‐1 Insertion Causes a Rotor Syndrome Phenotype

HUMAN MUTATION,volume 36,issue 3 , Vol. 36, Iss. 3, 2015-03 , pp. 327-332

John Wiley & Sons Inc

Abstract Access to resources Recommend Favorite

Previous 1 2 Next Display item(s) per page Total 19 item(s)