Hidden mutations in Cornelia de Lange syndrome limitations of sanger sequencing in molecular diagnostics.
about
Unrevealed mosaicism in the next-generation sequencing eraDe novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.Nipbl Interacts with Zfp609 and the Integrator Complex to Regulate Cortical Neuron Migration.Clinical utility gene card for: Cornelia de Lange syndromeStructure of the cohesin loader Scc2.A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer element.Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital.Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.
P2860
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P2860
Hidden mutations in Cornelia de Lange syndrome limitations of sanger sequencing in molecular diagnostics.
description
2014 nî lūn-bûn
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name
Hidden mutations in Cornelia d ...... cing in molecular diagnostics.
@en
Hidden mutations in Cornelia d ...... cing in molecular diagnostics.
@nl
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label
Hidden mutations in Cornelia d ...... cing in molecular diagnostics.
@en
Hidden mutations in Cornelia d ...... cing in molecular diagnostics.
@nl
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Hidden mutations in Cornelia d ...... cing in molecular diagnostics.
@en
Hidden mutations in Cornelia d ...... cing in molecular diagnostics.
@nl
P2093
P2860
P50
P356
P1433
P1476
Hidden mutations in Cornelia d ...... cing in molecular diagnostics.
@en
P2093
Carolin Obieglo
Diana Braunholz
Frank J Kaiser
Gabriele Gillessen-Kaesbach
Harald Rieder
Ilaria Parenti
Ingrid Braenne
Jelena Pozojevic
Juliane Eckhold
Kerstin S Wendt
P2860
P356
10.1002/HUMU.22685
P577
2014-12-02T00:00:00Z