Detalhe da pesquisa
1.
A novel MAP3K7 mutation in a child with cardiospondylocarpofacial syndrome and orofacial clefting.
Clin Genet
; 103(2): 254-255, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36320120
2.
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
3.
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
4.
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
5.
The phenotypic spectrum of AMER1-related osteopathia striata with cranial sclerosis: The first Canadian cohort.
Am J Med Genet A
; 185(12): 3793-3803, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34414661
6.
Further delineation of Basel-Vanagaite-Smirin-Yosef syndrome: Report of three patients.
Am J Med Genet A
; 182(7): 1785-1790, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32324310
7.
Pancytopenia, splenomegaly, and mild bony abnormalities secondary to novel variants in thromboxane synthetase: An unusual cause of bone marrow failure.
Pediatr Blood Cancer
; 70(6): e30253, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36786374
8.
Lessons learned from a child with a chromosomal abnormality but no major congenital anomalies.
Paediatr Child Health
; 26(3): 139-140, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33936330
9.
Bulging anterior fontanelle and dense bones in an infant.
Paediatr Child Health
; 25(2): 69-71, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33390741
10.
Reclassification of Genetic Testing Results: A Case Report Demonstrating the Need for Structured Re-Evaluation of Genetic Findings.
Can J Kidney Health Dis
; 11: 20543581241242562, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38623282
11.
An uninformative NIPT as an early indicator of cri-du-chat due to a chromosomal 5;18 translocation-An atypical presentation of a rare cytogenetic phenomenon.
Clin Case Rep
; 11(8): e7732, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37529133
12.
Dual diagnosis of trisomy 21 and lethal perinatal Gaucher disease as a cause of non-immune hydrops fetalis in a twin pregnancy for a consanguineous couple.
Clin Case Rep
; 11(8): e7827, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37637203
13.
OTX2 mutation associated with severe myopia in a Canadian family.
Ophthalmic Genet
; 43(3): 389-391, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34957897
14.
Pitfalls in Genetic Testing for Consanguineous Pediatric Populations.
Case Rep Genet
; 2022: 9393042, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35663206
15.
Aromatase deficiency in an Ontario Old Order Mennonite family.
J Pediatr Endocrinol Metab
; 34(12): 1615-1618, 2021 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34348419
16.
X-linked BCOR-related syndrome in two male siblings.
Clin Dysmorphol
; 30(2): 104-109, 2021 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33229924