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Genes|December 24, 2021
WDR13: A Novel Gene Implicated in Non-Syndromic Intellectual DisabilitySylwia Rzońca-Niewczas, Jolanta Wierzba, Ewa Kaczorowska, et al.Journal of Mother and Child|October 13, 2021
The retrospective molecular analysis of large or giant congenital melanocytic nevi in a group of Polish childrenKatarzyna Wertheim-Tysarowska, Orest Szczygielski, Katarzyna Seliga, et al.European Journal of Human Genetics : EJHG|August 16, 2012
Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategyAgnieszka Sobczyńska-Tomaszewska, Mariusz Ołtarzewski, Kamila Czerska, et al.American Journal of Medical Genetics. Part A|November 18, 2008
Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) familyMagdalena Nawara, Jakub Klapecki, Katarzyna Borg, et al.Human Mutation|November 8, 2011
The COL7A1 mutation databaseKatarzyna Wertheim-Tysarowska, Agnieszka Sobczyńska-Tomaszewska, Cezary Kowalewski, et al.Medycyna Wieku Rozwojowego|February 13, 2014
The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher diseaseDorota Hoffman-Zacharska, Hanna Mierzewska, Elżbieta Szczepanik, et al.Neurologia I Neurochirurgia Polska|May 5, 2005
Application of a rapid non-invasive technique in the molecular diagnosis of spinal muscular atrophy (SMA)Maria Jedrzejowska, Wojciech Wiszniewski, Janusz Zimowski, et al.Journal of Applied Genetics|February 25, 2016
Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing and counsellingDorota Hoffman-Zacharska, Tomasz Mazurczak, Tomasz Zajkowski, et al.Genes|December 23, 2023
Research on the Pathogenesis of Cognitive and Neurofunctional Impairments in Patients with Noonan Syndrome: The Role of Rat Sarcoma-Mitogen Activated Protein Kinase Signaling Pathway Gene DisturbancesNatalia Braun-Walicka, Agnieszka Pluta, Tomasz Wolak, et al.Journal of Pediatric Gastroenterology and Nutrition|September 28, 2016
The Etiology and Clinical Course of Chronic Pancreatitis in Children With Early Onset of the DiseaseKarolina Wejnarska, Elwira Kolodziejczyk, Katarzyna Wertheim-Tysarowska, et al.Pageof 8