Detalhe da pesquisa
1.
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Am J Med Genet A
; 191(7): 1900-1910, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37183572
2.
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.
Am J Hum Genet
; 104(4): 685-700, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30929737
3.
Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern Ontario.
J Hum Genet
; 66(5): 451-464, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33093641
4.
Student-Athletes' Views on APOE Genotyping for Increased Risk of Poor Recovery after a Traumatic Brain Injury.
J Genet Couns
; 25(6): 1267-1275, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27207686
5.
Dual BRCA1 and BRCA2 pathogenic variants in an adolescent with syndromic intellectual disability.
Clin Case Rep
; 10(8): e6202, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35957765