Extending the critical regions for mutations in the non-coding gene in another patient with Roifman Syndrome

about

Extending the critical regions for mutations in the non-coding gene in another patient with Roifman Syndrome

Item

http://www.wikidata.org/entity/Q59130068

description

article

@en

wetenschappelijk artikel

@nl

наукова стаття, опублікована в листопаді 2018

@uk

name

Extending the critical regions ...... patient with Roifman Syndrome

@en

Extending the critical regions ...... patient with Roifman Syndrome

@nl

type

Item

label

Extending the critical regions ...... patient with Roifman Syndrome

@en

Extending the critical regions ...... patient with Roifman Syndrome

@nl

prefLabel

Extending the critical regions ...... patient with Roifman Syndrome

@en

Extending the critical regions ...... patient with Roifman Syndrome

@nl

P1476

Extending the critical regions ...... patient with Roifman Syndrome

@en

P2093

Andreas Laner

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

Anna Benet-Pagès

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

Brigitte Schönfeld

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

Elke Holinski-Feder

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

Janine Graf

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

Udo Koehler

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

P2860

Hierarchical, clustered protein interactions with U4/U6 snRNA: a biochemical role for U4/U6 proteins

Domains of human U4atac snRNA required for U12-dependent splicing in vivo

The significant other: splicing by the minor spliceosome

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes.

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.

Noncompaction of the myocardium associated with Roifman syndrome.

A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome.

Is Roifman syndrome an X-linked ciliopathy with humoral immunodeficiency? Evidence from 2 new cases.

The cognitive and behavioural phenotype of Roifman syndrome.

The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.

P304

2224-2228

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

P31

scholarly article

case report

P356

10.1002/CCR3.1830

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

P407

English

P433

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

P478

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

P50

Ariane Hallermayr

P577

2018-10-11T00:00:00Z

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

P698

30455926

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

P932

6230649

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