about
Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their familiesMendelian cytogenetics. Chromosome rearrangements associated with mendelian disordersAlagille syndrome.Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development.Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and further localizes the Alagille region within 20p12.Cytologically balanced t(2;20) in a two-generation family with alagille syndrome: cytogenetic and molecular studies.SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation
P2860
Q24538971-A309477D-8011-42BE-80A3-1EDA2BB0350EQ30495385-3A92DDE0-594B-40B5-BC94-BEF916B49C90Q33678457-77F31216-1A8C-4C71-B67F-2C3A583CFB15Q34827029-97E8B224-28BB-4BC7-93A7-4D137023CFFCQ35644009-EFFA804D-CEC0-40FC-950F-DB9135B772BEQ35889608-1C5B755B-84CA-4B91-BD1F-004E270EA0A0Q37114387-CBDC6E51-D9B9-4360-A1FE-418A8CC90708
P2860
description
1992 nî lūn-bûn
@nan
1992 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Alagille syndrome with de novo del(20) (p11.2).
@ast
Alagille syndrome with de novo del(20) (p11.2).
@en
type
label
Alagille syndrome with de novo del(20) (p11.2).
@ast
Alagille syndrome with de novo del(20) (p11.2).
@en
prefLabel
Alagille syndrome with de novo del(20) (p11.2).
@ast
Alagille syndrome with de novo del(20) (p11.2).
@en
P2093
P356
P1476
Alagille syndrome with de novo del(20) (p11.2).
@en
P2093
P356
10.1002/AJMG.1320420109
P577
1992-01-01T00:00:00Z