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1.
DLG2 intragenic exonic deletions reinforce the link to neurodevelopmental disorders and suggest a potential association with congenital anomalies and dysmorphism.
Genet Med
; 26(1): 101010, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-37860969
2.
An Early Case of Complete Androgen Insensitivity Syndrome.
J Investig Med High Impact Case Rep
; 11: 23247096231157918, 2023.
Article
in English
| MEDLINE | ID: mdl-36852701
3.
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
Mol Genet Genomic Med
; 9(10): e1809, 2021 10.
Article
in English
| MEDLINE | ID: mdl-34519438
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