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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.
Missense variant in SRCAP with distinct DNA methylation signature associated with non-FLHS SRCAP-related neurodevelopmental disorder.
Am J Med Genet A
; 191(10): 2640-2646, 2023 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-37340855
3.
Further characterization of CEP85L-associated lissencephaly type 10: Report of a three-generation family and review of the literature.
Am J Med Genet A
; 191(12): 2878-2883, 2023 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-37621218
4.
A disease-causing variant in HNRNPH2 inherited from an unaffected mother with skewed X-inactivation.
Am J Med Genet A
; 188(2): 668-671, 2022 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-34719854
5.
Genetically unresolved case of Rauch-Steindl syndrome diagnosed by its wolf-hirschhorn associated DNA methylation episignature.
Front Cell Dev Biol
; 10: 1022683, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36589751
6.
The Benefit of Multigene Panel Testing for the Diagnosis and Management of the Genetic Epilepsies.
Genes (Basel)
; 13(5)2022 05 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-35627257
7.
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.
Sci Adv
; 8(33): eabo7112, 2022 08 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-35977029
8.
Interstitial lung disease in a family with bi-allelic variants in ABCA3: non-specific interstitial pneumonitis pattern of injury.
Pathology
; 56(1): 104-107, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-37657992
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