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1.
Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPB.
Neurogenetics
; 24(2): 103-112, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36780047
2.
Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida.
Genet Med
; 23(7): 1211-1218, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-33686259
3.
Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum.
Orphanet J Rare Dis
; 18(1): 52, 2023 03 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-36907859
4.
Characterization of a loss-of-function NSF attachment protein beta mutation in monozygotic triplets affected with epilepsy and autism using cortical neurons from proband-derived and CRISPR-corrected induced pluripotent stem cell lines.
Front Neurosci
; 17: 1302470, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-38260021
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