Detalhe da pesquisa
1.
Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis.
Mol Genet Metab
; 125(3): 302-304, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30249361
2.
Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.
Hum Mutat
; 34(10): 1415-23, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23878096
3.
TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations.
Hum Genet
; 132(11): 1245-52, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23812740
4.
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
Hum Mutat
; 33(4): 728-40, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22290657
5.
Brain abnormalities in patients with Beckwith-Wiedemann syndrome.
Am J Med Genet A
; 158A(6): 1388-94, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22585446
6.
Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders.
Mol Cytogenet
; 5: 17, 2012 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-22480366
7.
The MMRpro model accurately predicted the probability of carrying a cancer-susceptibility gene mutation for the Lynch syndrome.
ACP J Club
; 146(2): 53, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17335176