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1.
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.
Genet Med
; 26(5): 101075, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38251460
2.
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.
HGG Adv
; 5(3): 100309, 2024 May 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-38751117
3.
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.
HGG Adv
; 5(2): 100273, 2024 Apr 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-38297832
4.
Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features.
medRxiv
; 2023 Sep 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-37808847
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