Detalhe da pesquisa
1.
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.
Genet Med
; 26(1): 101007, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37860968
2.
A survey of Canadian adult rheumatologists' knowledge, comfort level, and barriers in assessing psychosocial needs of young adults with rheumatic diseases.
Rheumatol Int
; 43(8): 1479-1484, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37162528
3.
Neonatal hyperinsulinism-broadening the differential diagnosis.
Paediatr Child Health
; 28(2): 67-68, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37151925
4.
A Phenotypic Description of Congenital Myotonic Dystrophy using PhenoStacks.
J Neuromuscul Dis
; 6(3): 341-347, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31227653
5.
Developmental Milestones and Quality of Life Assessment in a Congenital Myotonic Dystrophy Cohort.
J Neuromuscul Dis
; 3(3): 405-412, 2016 08 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-27854230