about
The Regulation of Steroid Action by Sulfation and DesulfationHomozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.Catel-Manzke Syndrome: Further Delineation of the Phenotype Associated with Pathogenic Variants in TGDSXYLT1 mutations in Desbuquois dysplasia type 2.Scans for signatures of selection in Russian cattle breed genomes reveal new candidate genes for environmental adaptation and acclimation
P2860
description
im August 2012 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 06 August 2012
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована у вересні 2012
@uk
name
IMPAD1 mutations in two Catel-Manzke like patients
@en
IMPAD1 mutations in two Catel-Manzke like patients
@nl
type
label
IMPAD1 mutations in two Catel-Manzke like patients
@en
IMPAD1 mutations in two Catel-Manzke like patients
@nl
prefLabel
IMPAD1 mutations in two Catel-Manzke like patients
@en
IMPAD1 mutations in two Catel-Manzke like patients
@nl
P2093
P356
P1476
IMPAD1 mutations in two Catel-Manzke like patients
@en
P2093
Arnold Munnich
Beyhan Tuysuz
David Geneviève
David Sillence
Mathilde Nizon
Pelin Ozlem Simsek Kiper
Yasemin Alanay
P304
P356
10.1002/AJMG.A.35504
P407
P577
2012-08-06T00:00:00Z