Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease.

Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease.

Item
http://www.wikidata.org/entity/Q34987350
Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements5p13.3p13.2 duplication associated with developmental delay, congenital malformations and chromosome instability manifested as low-level aneuploidy.Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells.Exome sequencing and whole genome sequencing for the detection of copy number variation.Genetic, environmental, and epigenetic factors involved in CAKUT.Chromothripsis after Stumbling through DNA Replication.Tetraploid/Diploid Mosaicism in Cultured Genital Skin Fibroblasts: Is It Causally Related to Penoscrotal Hypospadias?Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement.Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern.Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patients.
P2860

Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease.

Item
http://www.wikidata.org/entity/Q34987350
description
2014 nî lūn-bûn
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2014 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Deciphering the pathogenic con ...... ions in human genetic disease.
@ast
Deciphering the pathogenic con ...... ions in human genetic disease.
@en
Deciphering the pathogenic con ...... ions in human genetic disease.
@nl
type
label
Deciphering the pathogenic con ...... ions in human genetic disease.
@ast
Deciphering the pathogenic con ...... ions in human genetic disease.
@en
Deciphering the pathogenic con ...... ions in human genetic disease.
@nl
prefLabel
Deciphering the pathogenic con ...... ions in human genetic disease.
@ast
Deciphering the pathogenic con ...... ions in human genetic disease.
@en
Deciphering the pathogenic con ...... ions in human genetic disease.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P577
P5875
P6179
P698
P932
P356
P1433
P1476
Deciphering the pathogenic con ...... ions in human genetic disease.
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P577
P5875
P6179
P698
P932