Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.

Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.

Item
http://www.wikidata.org/entity/Q35194477
Rare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and ManagementRubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and managementMendelian disorders of the epigenetic machinery: tipping the balance of chromatin statesThe 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disordersRubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.Submicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in a North American population.Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutationsOcular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature.Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects.Administration of BMP2/7 in utero partially reverses Rubinstein-Taybi syndrome-like skeletal defects induced by Pdk1 or Cbp mutations in miceGenetic basis of cognitive disability.Tricuspid atresia and pulmonary atresia in a child with Rubinstein-Taybi syndromeSimultaneous, multilocus FISH analysis for detection of microdeletions in the diagnostic evaluation of developmental delay and mental retardation.
P2860

Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.

Item
http://www.wikidata.org/entity/Q35194477
description
1993 nî lūn-bûn
@nan
1993 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年学术文章
@wuu
1993年学术文章
@zh-cn
1993年学术文章
@zh-hans
1993年学术文章
@zh-my
1993年学术文章
@zh-sg
1993年學術文章
@yue
name
Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.
@ast
Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.
@en
type
label
Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.
@ast
Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.
@en
prefLabel
Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.
@ast
Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.
@en
P1433
P1476
P2093
P2860
P304
P31
P407
P433
P478
P50
P577
P698
P932
P1433
P1476
Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.
@en
P2093
P2860
P304
P31
P407
P433
P478
P50
P577
P698
P932