L.M. Graul-Neumann

Type de document

Co-auteur

J.B. Yntema

Z. Yap

D. Wellesley

N.E. Verbeek

J.A. Veltman

M.C. van Maarle

UK10K,

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

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 L.M. Graul-Neumann (1) | parle de L.M. Graul-Neumann (0)

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)