Discover open access scientific publications

Search, annotate, share and cite publications

Publications by M A M van Steensel

A Missense Mutation in the Type II Hair Keratin hHb3 Is Associated With Monilethrix

Journal of Medical Genetics

English

Related publications

A Novel Missense Mutation in USP26 Gene Is Associated With Nonobstructive Azoospermia

Reproductive Sciences

English

A Missense Mutation in Pstpip2 Is Associated With the Murine Autoinflammatory Disorder Chronic Multifocal Osteomyelitis

English

Single Missense Mutation in the Tyrosine Kinase Catalytic Domain of the RET Protooncogene Is Associated With Multiple Endocrine Neoplasia Type 2B.

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

A Homozygous Missense Mutation in SLC25A16 Is Associated With Autosomal Recessive Isolated Fingernail Dysplasia in a Pakistani Family

British Journal of Dermatology

English

A Missense Mutation of the DHH Gene Is Associated With Male Pseudohermaphroditic Rats Showing Impaired Leydig Cell Development

Reproductive Medicine

English

A Novel Missense Mutation T101N in the Melanocortin-4 Receptor Gene Associated With Obesity

Genetics and Molecular Research

Molecular Biology

English

Severe Meesmann’s Epithelial Corneal Dystrophy Phenotype Due to a Missense Mutation in the Helix-Initiation Motif of Keratin 12

Sensory Systems

English

A Novel Missense Mutation That May Be Associated With the Polydactyly in the HOXD13 Gene: Q241H

The Annals of Clinical and Analytical Medicine

English

Dominant Red Coat Color in Holstein Cattle Is Associated With a Missense Mutation in the Coatomer Protein Complex, Subunit Alpha (COPA) Gene

Multidisciplinary

English