UK10K

Type de document

Co-auteur

J.B. Yntema

Z. Yap

D. Wellesley

N.E. Verbeek

J.A. Veltman

M.C. van Maarle

A. Superti-Furga

J. Stalker

S.F. Smithson

M. Schmidts

P.J. Scambler

R. Roepman

N. Roeleveld

V. Plagnol

M.M. Oud

H.M. Mitchison

E. Lausch

A. Kutkowska-Kazmierczak

N.V. Knoers

H. Kayserili

E.J. Kamsteeg

A. Hoischen

R.C. Hennekam

L.M. Graul-Neumann

C. Gilissen

E. Forsythe

R.D. Emes

N. Elcioglu

L. Duijkers

K. Devriendt

E.M. Bongers

P.L. Beales

H.H. Arts

D. Antony

Date

Source

Serveur académique Lausannois (1)

Mot-clé

protéine (1) cartographie (cartes) (1) gène (1) maladie (1) sujet (1) machine (1) Deletion (1) Defects (1) Showing (1) Methods (1) Phenotype (1) Genetic disorders--Diagnosis (1) Genes (1) Transportation (1) Ribs (1) Retinal (Visual pigment) (1) Proteins (1) Patients (1) Manufacturers' agents (1) Machinery (1) Liver (1) Human chromosome abnormalities--Diagnosis (1) Fibroblasts (1) Families (1) Evaluation (1) Dystrophy (1) Defects (1) Commission merchants (1) Brothers and sisters (1) Bones (1)

Documents écrit par UK10K (1) | parle de UK10K (2)

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.

M. Schmidts et al. (2013)