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Molecular Genetics & Genomic Medicine|June 25, 2020
Untypically mild phenotype of a patient suffering from Sanfilippo syndrome B with the c.638C>T/c.889C>T (p.Pro213Leu/p.Arg297Ter) mutations in the NAGLU geneKarolina Pierzynowska, Arkadiusz Mański, Monika Limanówka, et al.Journal of Applied Genetics|December 31, 2024
Development and longitudinal neurocognitive functioning in mucopolysaccharidosis type IIIC: a case studyPaulina Anikiej-Wiczenbach, Monika Limanówka, Maria Mazurkiewicz-Bełdzińska, et al.Frontiers in Genetics|January 22, 2024
Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implicationsMagdalena Krygier, Marta Pietruszka, Marta Zawadzka, et al.Journal of Applied Genetics|May 7, 2022
Highly diverse phenotypes of mucopolysaccharidosis type IIIB sibling patients: effects of an additional mutation in the AUTS2 genePaulina Anikiej-Wiczenbach, Arkadiusz Mański, Katarzyna Milska-Musa, et al.Journal of Inherited Metabolic Disease|July 3, 2023
Clinical presentation of 13 children with alkaptonuriaMariusz J Kujawa, Dominik Świętoń, Jolanta Wierzba, et al.Pageof 1