Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variantAleksandra Jezela‐Stanek, Małgorzata Krajewska‐Walasek, Marzena Kucharczyk et al.|Biomedical Papers|2016Cited by 20
Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease PhenotypeVictor Murcia Pienkowski, Rafał Płoski, Joanna Kosińska et al.|Journal of Clinical Medicine|2020Cited by 9
Family report of Birk-Barel syndrome — a neurodevelopmental channelopathy with epigenetic signatureDorota Piekutowska‐Abramczuk, Agnieszka Madej‐Pilarczyk, Maria Jędrzejowska et al.|Neurologia i Neurochirurgia Polska|2025Cited by 0
Rubinstein–Taybi Syndrome: A Comprehensive Analysis of a Polish Cohort with Most Cases Due to Novel CREBBP and EP300 VariantsAgata Cieślikowska, Elżbieta Ciara, Agnieszka Madej‐Pilarczyk et al.|Genes|2025Cited by 0