Detalhe da pesquisa
1.
An online survey to understand the needs of caregivers of family members with 22q11 deletion syndrome.
J Intellect Disabil Res
; 67(9): 860-868, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37449408
2.
Genotype-phenotype data from a case series of patients with mosaic neurofibromatosis type 1.
Br J Dermatol
; 179(5): 1216-1217, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29957862
3.
Mosaicism for a SPRED1 deletion revealed in a patient with clinically suspected mosaic neurofibromatosis.
Br J Dermatol
; 176(4): 1077-1078, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27423141
4.
Cytogenetic and molecular studies of Down syndrome individuals with leukemia.
Am J Hum Genet
; 56(4): 915-25, 1995 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-7717402
5.
Predictive, pre-natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000.
Clin Genet
; 63(6): 462-75, 2003 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-12786753