Showing results (61-70 of 73) with videos related to
Sort By:
Pageof 8
Pediatric Neurology|June 26, 2016
PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset EncephalopathiesPawel Gawlinski, Renata Posmyk, Tomasz Gambin, et al.Human Mutation|December 30, 2014
Gene conversion between cationic trypsinogen (PRSS1) and the pseudogene trypsinogen 6 (PRSS3P2) in patients with chronic pancreatitisAgnieszka Magdalena Rygiel, Sebastian Beer, Peter Simon, et al.Journal of Assisted Reproduction and Genetics|January 26, 2022
Application of array comparative genomic hybridization (aCGH) for identification of chromosomal aberrations in the recurrent pregnancy lossKatarzyna Kowalczyk, Marta Smyk, Magdalena Bartnik-Głaska, et al.Journal of Mother and Child|April 30, 2021
The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981*)Mateusz Dawidziuk, Anna Kutkowska-Kaźmierczak, Paweł Gawliński, et al.Journal of Applied Genetics|August 12, 2025
NGS sequencing reveals the cause of hearing loss in a group of Polish patients with an isolated, non-DFNB1 hearing lossKatarzyna Niepokój, Agnieszka Magdalena Rygiel, Katarzyna Wertheim-Tysarowska, et al.Parkinsonism & Related Disorders|August 7, 2013
Novel A18T and pA29S substitutions in α-synuclein may be associated with sporadic Parkinson's diseaseDorota Hoffman-Zacharska, Dariusz Koziorowski, Owen A Ross, et al.Human Molecular Genetics|December 22, 2017
FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesisJuliette Piard, Jia-Hua Hu, Philippe M Campeau, et al.Genes|August 27, 2021
Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3Anna Kutkowska-Kaźmierczak, Maria Boczar, Ewa Kalka, et al.American Journal of Human Genetics|December 20, 2003
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benignJoshua D Groman, Timothy W Hefferon, Teresa Casals, et al.European Journal of Human Genetics : EJHG|May 1, 2018
Comprehensive genomic analysis of patients with disorders of cerebral cortical developmentWojciech Wiszniewski, Pawel Gawlinski, Tomasz Gambin, et al.Pageof 8