Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: study of two cases and review of the literature.

Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: study of two cases and review of the literature.

Item
http://www.wikidata.org/entity/Q51922364
Fluorescence In situ Hybridization: Cell-Based Genetic Diagnostic and Research ApplicationsImpaired Dendritic Development and Memory in Sorbs2 Knock-Out Mice.Creation of mutant mice with megabase-sized deletions containing custom-designed breakpoints by means of the CRISPR/Cas9 systemTerminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature.Renal failure associated with APECED and terminal 4q deletion: evidence of autoimmune nephropathyUtero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci.Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yieldGenome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han populationPrenatal diagnosis of two de novo 4q35-qter deletions characterized by array-CGH.An Unbalanced Rearrangement of Chromosomes 4:20 is Associated with Childhood Osteoporosis and Reduced Caspase-3 Levels.Specific inactivation of Twist1 in the mandibular arch neural crest cells affects the development of the ramus and reveals interactions with hand2.12-year-old boy with a 4q35.2 microdeletion and involvement of MTNR1A, FAT1, and F11 genes.Identification and molecular characterization of two novel chromosomal deletions associated with autism.Unique genomic structure and distinct mitotic behavior of ring chromosome 21 in two unrelated cases.Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization.4q34.1–q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome
P2860

Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: study of two cases and review of the literature.

Item
http://www.wikidata.org/entity/Q51922364
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh-hant
name
Clinical and genomic character ...... and review of the literature.
@en
Clinical and genomic character ...... and review of the literature.
@nl
type
label
Clinical and genomic character ...... and review of the literature.
@en
Clinical and genomic character ...... and review of the literature.
@nl
prefLabel
Clinical and genomic character ...... and review of the literature.
@en
Clinical and genomic character ...... and review of the literature.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P932
P356
P1433
P1476
Clinical and genomic character ...... and review of the literature.
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P932