Detalhe da pesquisa
1.
Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases.
Am J Hum Genet
; 111(1): 70-81, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38091987
2.
An examination of the factors contributing to the expansion of subspecialty genetic counseling.
J Genet Couns
; 28(3): 616-625, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30706979
3.
Influence of genetic risk information on parental role identity in adolescent girls and young women from families with fragile X syndrome.
J Genet Couns
; 21(1): 59-71, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21826579
4.
Communication of genetic risk information to daughters in families with fragile X syndrome: the parent's perspective.
J Genet Couns
; 20(1): 58-69, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20878219
5.
When to tell and test for genetic carrier status: perspectives of adolescents and young adults from fragile X families.
Am J Med Genet A
; 149A(6): 1190-9, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19449413
6.
Genetic risk communication: experiences of adolescent girls and young women from families with fragile X syndrome.
J Genet Couns
; 18(4): 313-25, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19277853
7.
Outcome and life satisfaction of adults with myelomeningocele.
Disabil Health J
; 6(3): 236-43, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23769483