S.F. Smithson

Type de document

Co-auteur

A. Superti-Furga

J.B. Yntema

Z. Yap

M. Williams

I.M. Wentzensen

D. Wellesley

N.E. Verbeek

J.A. Veltman

M.C. van Maarle

E. van Binsbergen

UK10K,

J. Stalker

MEH Simon

I.J. Scurr

M. Schmidts

P.J. Scambler

R. Roepman

N. Roeleveld

V. Plagnol

G. Pierre

M.M. Oud

H.M. Mitchison

A. McRae

H. McLaughlin

A. Majumdar

L. Leeuwen

E. Lausch

K. Kutsche

A. Kutkowska-Kazmierczak

N.V. Knoers

H. Kayserili

J.D. Kaplan

E.J. Kamsteeg

A. Hoischen

R.C. Hennekam

L.B. Henderson

K.W. Gripp

L.M. Graul-Neumann

J.M. Good

C. Gilissen

E. Forsythe

R.D. Emes

N. Elcioglu

L. Duijkers

MBP Dinulos

K. Devriendt

E.M. Bongers

P.L. Beales

J. Baptista

H.H. Arts

D. Antony

Date

Source

Serveur académique Lausannois (2)

Mot-clé

Phenotype (2) Genes (2) puits (1) protéine (1) association (1) mutation (1) cartographie (cartes) (1) gène (1) maladie (1) sujet (1) enfant (1) machine (1) adulte (1) Dilatation (1) Deletion (1) Defects (1) Showing (1) Methods (1) Abnormalities (1) Genetic disorders--Diagnosis (1) Potassium channels (1) Transportation (1) Syndromes (1) Social groups (1) Sharing (1) Ribs (1) Retinal (Visual pigment) (1) Proteins (1) Potassium (1) Patients (1)

Documents écrit par S.F. Smithson (2) | parle de S.F. Smithson (0)

Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies.

K.W. Gripp et al.

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)