Detalhe da pesquisa
1.
Diagnostic outcomes for molecular genetic testing in children with suspected Ehlers-Danlos syndrome.
Am J Med Genet A
; 188(5): 1376-1383, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35128800
2.
Diagnostic yield of genome sequencing for prenatal diagnosis of fetal structural anomalies.
Prenat Diagn
; 42(7): 822-830, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35089622
3.
Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.
J Med Genet
; 55(5): 316-321, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29599419
4.
Mosaic microdeletion of 17p11.2-p12 and duplication of 17q22-q24 in a girl with Smith-Magenis phenotype and peripheral neuropathy.
Am J Med Genet A
; 164A(3): 748-52, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24357149
5.
Variants in Genes Associated with Hearing Loss in Children: Prevalence in a Large Canadian Cohort.
Laryngoscope
; 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38426810
6.
Regionally defined proteomic profiles of human cerebral tissue and organoids reveal conserved molecular modules of neurodevelopment.
Cell Rep
; 39(8): 110846, 2022 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35613588
7.
Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh.
NPJ Genom Med
; 6(1): 14, 2021 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33594065