Detalhe da pesquisa
1.
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
Am J Hum Genet
; 109(2): 361-372, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35051358
2.
Genetic findings in Czech patients with limb girdle muscular dystrophy.
Clin Genet
; 104(5): 542-553, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37526466
3.
UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood.
Neuropediatrics
; 50(1): 57-60, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30517966
4.
SPG11: clinical and genetic features of seven Czech patients and literature review.
Neurol Res
; 44(5): 379-389, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35254204