Search details
1.
De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
Hum Mol Genet
; 31(3): 440-454, 2022 02 03.
Article
in English
| MEDLINE | ID: mdl-34505148
2.
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Genet Med
; 25(1): 37-48, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36322149
3.
PIGN encephalopathy: Characterizing the epileptology.
Epilepsia
; 63(4): 974-991, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35179230
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