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1.
De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila.
Hum Mol Genet
; 31(19): 3231-3244, 2022 09 29.
Article
in English
| MEDLINE | ID: mdl-35234901
2.
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder.
medRxiv
; 2023 Jun 16.
Article
in English
| MEDLINE | ID: mdl-37398376
3.
A Novel Intronic Pathogenic Variant in STAR With a Dominant Negative Mechanism Causes Attenuated Lipoid Congenital Adrenal Hyperplasia.
J Investig Med High Impact Case Rep
; 9: 23247096211014685, 2021.
Article
in English
| MEDLINE | ID: mdl-33966472
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