Detalhe da pesquisa
1.
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.
J Med Genet
; 59(7): 669-677, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34321324
2.
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Genet Med
; 24(10): 2065-2078, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35980381
3.
Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A).
J Neuropathol Exp Neurol
; 79(9): 998-1010, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32827036
4.
Impact of genetic advances and testing for hearing loss: results from a national consumer survey.
Am J Med Genet A
; 149A(6): 1159-68, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19449400
5.
Provision of genetic services for hearing loss: results from a national survey and comparison to insights obtained from previous focus group discussions.
J Genet Couns
; 18(6): 618-21, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19798556
6.
Consumer motivations for pursuing genetic testing and their preferences for the provision of genetic services for hearing loss.
J Genet Couns
; 17(3): 252-60, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18247107
7.
A focus group study of consumer attitudes toward genetic testing and newborn screening for deafness.
Genet Med
; 8(12): 779-83, 2006 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17172941