Whole-exome sequencing in Tricho-rhino-phalangeal syndrome (TRPS) type I in a Korean family

about

Whole-exome sequencing in Tricho-rhino-phalangeal syndrome (TRPS) type I in a Korean family

Item

http://www.wikidata.org/entity/Q57691642

description

wetenschappelijk artikel

@nl

наукова стаття, опублікована в грудні 2016

@uk

name

Whole-exome sequencing in Tric ...... RPS) type I in a Korean family

@en

Whole-exome sequencing in Tricho-rhino-phalangeal syndrome

@nl

type

Item

label

Whole-exome sequencing in Tric ...... RPS) type I in a Korean family

@en

Whole-exome sequencing in Tricho-rhino-phalangeal syndrome

@nl

prefLabel

Whole-exome sequencing in Tric ...... RPS) type I in a Korean family

@en

Whole-exome sequencing in Tricho-rhino-phalangeal syndrome

@nl

P1476

Whole-exome sequencing in Tric ...... RPS) type I in a Korean family

@en

P2093

Byulee Yoon

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

Byung Cheol Park

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

Kyudong Han

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

Seung-Yeol Son

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

Yun-Ji Kim

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

P2860

Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I

Isolation and fine mapping of 16 novel human zinc finger-encoding cDNAs identify putative candidate genes for developmental and malignant disorders

Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.

Revisiting Mendelian disorders through exome sequencing.

Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.

Mut-7 of C. elegans, required for transposon silencing and RNA interference, is a homolog of Werner syndrome helicase and RNaseD.

Identification of a new mutation in TRPS1 gene leading to tricho-rhino-phalangeal syndrome I in a Chinese patient.

Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness.

Mutations in TRPS1 gene in trichorhinophalangeal syndrome type I in Asian patients.

P2888

s13258-016-0508-1

P304

417-422

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

P31

scholarly article

P356

10.1007/S13258-016-0508-1

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

P433

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

P478

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

P577

2016-12-28T00:00:00Z

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