Detalhe da pesquisa
1.
Itpr1 regulates the formation of anterior eye segment tissues derived from neural crest cells.
Development
; 148(16)2021 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34338282
2.
Craniosynostosis in molecularly diagnosed Kabuki syndrome: Prevalence and clinical implications.
Am J Med Genet A
; 194(2): 268-278, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37815018
3.
A novel human muscle cell model of Duchenne muscular dystrophy created by CRISPR/Cas9 and evaluation of antisense-mediated exon skipping.
J Hum Genet
; 63(3): 365-375, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29339778
4.
Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome.
Am J Med Genet A
; 158A(8): 1891-6, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22711443
5.
West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14.
Am J Med Genet A
; 155A(10): 2584-8, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21910242
6.
A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndrome.
Am J Med Genet B Neuropsychiatr Genet
; 156B(7): 799-807, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21812100
7.
Maternal uniparental disomy 14 syndrome demonstrates prader-willi syndrome-like phenotype.
J Pediatr
; 155(6): 900-903.e1, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19800077
8.
Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype.
Eur J Hum Genet
; 16(8): 1019-23, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18478039
9.
Hand-foot-genital syndrome with a 7p15 deletion: clinically recognizable syndrome.
Pediatr Int
; 54(3): e22-5, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22631585
10.
LNA/DNA mixmer-based antisense oligonucleotides correct alternative splicing of the SMN2 gene and restore SMN protein expression in type 1 SMA fibroblasts.
Sci Rep
; 7(1): 3672, 2017 06 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-28623256
11.
Prion-like domains in RNA binding proteins are essential for building subnuclear paraspeckles.
J Cell Biol
; 210(4): 529-39, 2015 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-26283796
12.
Germline mosaicism of a novel UBE3A mutation in Angelman syndrome.
Am J Med Genet A
; 138A(2): 187-9, 2005 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16100729