‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes

Item

http://www.wikidata.org/entity/Q56568065

description

im August 2015 veröffentlichter wissenschaftlicher Artikel

@de

scientific article published on 12 August 2015

@en

wetenschappelijk artikel

@nl

наукова стаття, опублікована в серпні 2015

@uk

name

‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes

@en

‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes

@nl

type

Item

label

‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes

@en

‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes

@nl

prefLabel

‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes

@en

‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes

@nl

P1476

'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes

@en

P2093

A J van Essen

http://www.w3.org/2001/XMLSchema#string

B T Poll-The

http://www.w3.org/2001/XMLSchema#string

D Wieczorek

http://www.w3.org/2001/XMLSchema#string

H Engels

http://www.w3.org/2001/XMLSchema#string

H-J Lüdecke

http://www.w3.org/2001/XMLSchema#string

J C Czeschik

http://www.w3.org/2001/XMLSchema#string

J Smeitink

http://www.w3.org/2001/XMLSchema#string

Nuria C Bramswig

http://www.w3.org/2001/XMLSchema#string

R Pfundt

http://www.w3.org/2001/XMLSchema#string

T Kleefstra

http://www.w3.org/2001/XMLSchema#string

P2860

High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

The genetic basis of DOORS syndrome: an exome-sequencing study

Severe mental retardation and absent nails of hallux and pollex.

Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review.

The enigmatic cytoplasmic regions of KCNH channels.

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.

De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome.

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.

DOOR syndrome: clinical report, literature review and discussion of natural history.

P2888

s00439-015-1590-1

P304

1089-1097

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1007/S00439-015-1590-1

http://www.w3.org/2001/XMLSchema#string

P433

http://www.w3.org/2001/XMLSchema#string

P478

134

http://www.w3.org/2001/XMLSchema#string

P50

Charlotte W Ockeloen

P577

2015-08-12T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

281172871

http://www.w3.org/2001/XMLSchema#string

P698

26264464

http://www.w3.org/2001/XMLSchema#string