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1.
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.
Genet Med
; 26(2): 101012, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-37924259
2.
A novel intragenic DPF2 deletion identified by genome sequencing in an adult with clinical features of Coffin-Siris syndrome.
Am J Med Genet A
; 188(8): 2493-2496, 2022 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-35607970
3.
SMG9-deficiency syndrome caused by a homozygous missense variant: Expanding the genotypic and phenotypic spectrum of this developmental disorder.
Am J Med Genet A
; 182(7): 1829-1831, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32412169
4.
RNA sequencing resolves novel DYNC2H1 variants causing short-rib thoracic dysplasia type 3: Case report.
Mol Genet Genomic Med
; 11(10): e2247, 2023 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-37489014
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