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GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity?Barbora Beňová, Pavel Kršek, Maurits Sanders et al.|European Journal of Paediatric Neurology|2021Cited by 25
The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes—A Comprehensive Study of the GJB2/DFNB1 RegionDana Šafka Brožková, Pavel Seeman, Anna Uhrová Mészárosová et al.|Genes|2021Cited by 21
Novel <i>SBF2</i> mutations and clinical spectrum of Charcot‐Marie‐Tooth neuropathy type 4B2Petra Laššuthová, Jan Senderek, Jana Neupauerová et al.|Clinical Genetics|2018Cited by 12
Disease‐Causing Variants in the <i>ATL1</i> Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech PatientsAnna Uhrová Mészárosová, Pavel Seeman, Dagmar Grečmalová et al.|Annals of Human Genetics|2017Cited by 9