Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.
about
Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and TreatmentZFHX4 interacts with the NuRD core member CHD4 and regulates the glioblastoma tumor-initiating cell stateMicrohomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain.A haplotype-based framework for group-wise transmission/disequilibrium tests for rare variant association analysisMitochondrial Dysfunction in a Patient with 8q21.11 Deletion and Charcot-Marie-Tooth Disease Type 2K due to GDAP1 Haploinsufficiency.PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.Clinical significance of de novo and inherited copy-number variation.A rare case of simple syndactyly in a puppy.8q21.11 microdeletion in two patients with syndromic peters anomaly.Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome
P2860
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P2860
Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.
description
2011 nî lūn-bûn
@nan
2011 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Characterization of a 8q21.11 ...... and a recognizable phenotype.
@ast
Characterization of a 8q21.11 ...... and a recognizable phenotype.
@en
type
label
Characterization of a 8q21.11 ...... and a recognizable phenotype.
@ast
Characterization of a 8q21.11 ...... and a recognizable phenotype.
@en
prefLabel
Characterization of a 8q21.11 ...... and a recognizable phenotype.
@ast
Characterization of a 8q21.11 ...... and a recognizable phenotype.
@en
P2093
P2860
P50
P1476
Characterization of a 8q21.11 ...... y and a recognizable phenotype
@en
P2093
Alicia Delicado
Beata Nowakowska
Elena Mansilla
Elena Vallespín
Elga F Belligni
Ewa Bocian
Ewa Obersztyn
Fernando Santos Simarro
Freddie H Sharkey
Göran Annerén
P2860
P304
P356
10.1016/J.AJHG.2011.06.012
P407
P50
P577
2011-07-28T00:00:00Z