M. Helmstädter

Type de document

Co-auteur

Y. Yang

F. Xia

K. Wu

M. Walkiewicz

F. Vetrini

M.J. Tokita

Z. Stark

M. Schmidts

F. A. Santoni

C. Richmond

A.U. Rehman

A. Rajab

A. Rad

A. Petersen

M. Najafi

R. Maroofian

P. Makrythanasis

S. Lunke

P. Liu

E.G. Karimiani

G. Karami Madani

M. Kambouris

J.V. Hunter

J. Hertecant

W. He

H. Hamamy

C.M. Eng

H. El-Shanti

Z. Bakey

S.J. Arnold

S.E. Antonarakis

F. Al-Jasmi

L. Al-Gazali

Source

Serveur académique Lausannois (1)

Mot-clé

nourisson (1) perte (1) effet (1) maladie (1) enfant (1) adulte (1) abords (agglomération) (1) Diseases (1) Phenotype (1) Genetic disorders (1) White (1) Syndromes (1) Storage (1) Process (Law) (1) Matter (1) Human beings (1) Fibroblasts (1) Families (1) Face--Abnormalities (1) Expression (1) Example (1) Endocytosis (1) Diseases (1) Corpus callosum (1) Proteomics (1) Thinning (1) Storage (1) adulte (1) nourrisson (1) maladie (1)

Documents écrit par M. Helmstädter (1) | parle de M. Helmstädter (0)

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.

A.U. Rehman et al.