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1.
USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder.
Mol Cell
; 59(6): 956-69, 2015 Sep 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-26365382
2.
Limitations of exome sequencing in detecting rare and undiagnosed diseases.
Am J Med Genet A
; 182(6): 1400-1406, 2020 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32190976
3.
Mutation update for the SATB2 gene.
Hum Mutat
; 40(8): 1013-1029, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-31021519
4.
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
Genet Med
; 21(8): 1797-1807, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-30679821
5.
Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.
Am J Hum Genet
; 86(3): 454-61, 2010 Mar 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-20206336
6.
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Hum Mutat
; 33(1): 165-79, 2012 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-21948486
7.
Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy.
Circ Cardiovasc Genet
; 6(4): 317-26, 2013 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-23861363
8.
17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations.
Eur J Hum Genet
; 20(5): 534-9, 2012 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-22166941
9.
Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant.
Cardiogenetics
; 1(1)2011 Aug 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-24062880
10.
Serial observations and mutational analysis of an adoptee with family history of hypertrophic cardiomyopathy.
Cardiol Res Pract
; 2010: 697269, 2010.
Artículo
en Inglés
| MEDLINE | ID: mdl-20309391
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