A.R. Janecke

Discipline

Psychologie (1) Anthropologie biologique (1)

Type de document

Co-auteur

S. Zuchner

P Zavadakova

S. Yamada

J. Vodopiutz

S. Unger

A. Superti-Furga

K. Sugahara

J. Senderek

P. Seeman

D. Safka Brozkova

A. Sadeghpour

C. Roth

C. Rivolta

B. Rautenstrauss

G. Povysil

T. Pilunthanakul

S. Mizumoto

M.T. McDonald

R. Mazanec

P. Lassuthova

N. Katsanis

J. Haberlova

S. Greber-Platzer

A. Ferbert

T. Deconinck

K.L. Deak

P. De Jonghe

E.E. Davis

R. Chrast

L. Beth Griffin

A.A. Beg

J. Baets

A. Antonellis

Date

Source

Serveur académique Lausannois (2)

Mot-clé

Patients (2) Patients (2) levure (1) biosynthèse (1) peau (1) mutation (1) modèle (1) perte (1) maladie humaine (1) enzyme (1) maladie (1) âge (1) jeune (1) Development (1) Deletion (1) Defects (1) Language (1) Abnormalities (1) Glycosylation (1) Genes (1) Dysplasia (1) Yeast (1) Stature, Short (1) Skin (1) Transfer RNA (1) Neuropathy (1) Nerves, Peripheral--Diseases (1) Muscles (1) Heterozygosity (1) Glycosaminoglycans (1)

Documents écrit par A.R. Janecke (2) | parle de A.R. Janecke (0)

CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.

S. Mizumoto et al.

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.

D. Safka Brozkova et al. (2015)