SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation
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Alagille syndrome: pathogenesis, diagnosis and managementAlagille syndrome: clinical perspectivesSpectrum of JAG1 gene mutations in Polish patients with Alagille syndromeCryptic genomic rearrangements in three patients with 46,XY disorders of sex development.Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia.Genome-wide identification of copy number variations in Chinese Holstein.Rapid and inexpensive screening of genomic copy number variations using a novel quantitative fluorescent PCR method.A Newborn with Panhypopituitarism and Seizures.A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexity.Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome.Novel FOXA2 mutation causes Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities.Systematic Review: the Epidemiology, Natural History and Burden of Alagille Syndrome.Alagille syndrome in a Vietnamese cohort: mutation analysis and assessment of facial features.Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: further confirmation of pathogenicity and haplotype analysis in Asian populations
P2860
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P2860
SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on March 2009
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
SNP array mapping of chromosom ...... pes, and copy number variation
@en
SNP array mapping of chromosom ...... es, and copy number variation.
@nl
type
label
SNP array mapping of chromosom ...... pes, and copy number variation
@en
SNP array mapping of chromosom ...... es, and copy number variation.
@nl
prefLabel
SNP array mapping of chromosom ...... pes, and copy number variation
@en
SNP array mapping of chromosom ...... es, and copy number variation.
@nl
P2093
P2860
P356
P1433
P1476
SNP array mapping of chromosom ...... pes, and copy number variation
@en
P2093
Binita M Kamath
Brian D Thiel
Daniel M Warthen
David A Piccoli
Dinah Clark
Ercan Mihci
Hakon Hakonarson
Ian D Krantz
Laura K Conlin
Nancy B Spinner
P2860
P304
P356
10.1002/HUMU.20863
P577
2009-03-01T00:00:00Z