TBP as a candidate gene for mental retardation in patients with subtelomeric 6q deletions.
about
Microarray comparative genomic hybridization in prenatal diagnosis: a reviewTAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological ManifestationsDelineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27Delineation variable genotype/phenotype correlations of 6q27 terminal deletion derived from dic(6;18)(q27;p10)BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.NOTCH, a new signaling pathway implicated in holoprosencephaly.Ophthalmologic abnormalities in a de novo terminal 6q deletion.Delineation of subtelomeric deletion of the long arm of chromosome 6.RNA therapy for polyglutamine neurodegenerative diseases.Congenital hydrocephalus and hemivertebrae associated with de novo partial monosomy 6q (6q25.3→qter).Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly.Developmental Coordination Disorder in a Patient with Mental Disability and a Mild Phenotype Carrying Terminal 6q26-qter Deletion.De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization.
P2860
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P2860
TBP as a candidate gene for mental retardation in patients with subtelomeric 6q deletions.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
TBP as a candidate gene for me ...... ith subtelomeric 6q deletions.
@en
type
label
TBP as a candidate gene for me ...... ith subtelomeric 6q deletions.
@en
prefLabel
TBP as a candidate gene for me ...... ith subtelomeric 6q deletions.
@en
P2093
P2860
P356
P1476
TBP as a candidate gene for me ...... ith subtelomeric 6q deletions.
@en
P2093
Edwin Reyniers
Gabrielle Mengus
Irwin Davidson
Jan Wauters
Leen Van Aerschot
Liesbeth Rooms
Rob van Luijk
Rudi D'Hooge
Stefaan Scheers
Winnie Courtens
P2860
P2888
P304
P356
10.1038/SJ.EJHG.5201674
P50
P577
2006-06-14T00:00:00Z
P5875
P6179
1026163998