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Journal of Applied Genetics|November 20, 2017
Hearing impairment caused by mutations in two different genes responsible for nonsyndromic and syndromic hearing loss within a single familyKatarzyna Niepokój, Agnieszka M Rygiel, Piotr Jurczak, et al.Journal of Pediatric Gastroenterology and Nutrition|September 7, 2006
Analysis of CFTR, SPINK1, PRSS1 and AAT mutations in children with acute or chronic pancreatitisAgnieszka Sobczyńska-Tomaszewska, Daniel Bak, Beata Oralewska, et al.Experimental Dermatology|September 22, 2018
A novel de novo mutation p.Ala428Asp in KRT5 gene as a cause of localized epidermolysis bullosa simplexMarta Stawczyk-Macieja, Katarzyna Wertheim-Tysarowska, Rafał Jakubowski, et al.European Journal of Dermatology : EJD|January 24, 2012
Novel and recurrent COL7A1 mutation in a Polish populationKatarzyna Wertheim-Tysarowska, Agnieszka Sobczyńska-Tomaszewska, Cezary Kowalewski, et al.International Journal of Molecular Sciences|January 21, 2022
De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter SyndromeMateusz Dawidziuk, Anna Kutkowska-Kazmierczak, Ewelina Bukowska-Olech, et al.Human Mutation|February 22, 2002
Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian, and Polish patientsSusan Kupka, Tímea Tóth, Maciej Wróbel, et al.Journal of Pediatric Gastroenterology and Nutrition|October 3, 2017
Chymotrypsinogen C Genetic Variants, Including c.180TT, Are Strongly Associated With Chronic Pancreatitis in Pediatric PatientsAlicja Monika Grabarczyk, Grzegorz Oracz, Katarzyna Wertheim-Tysarowska, et al.Pancreatology : Official Journal of the International Association of Pancreatology (IAP) ... [Et Al.]|May 16, 2016
The clinical course of hereditary pancreatitis in children - A comprehensive analysis of 41 casesGrzegorz Oracz, Elwira Kolodziejczyk, Agnieszka Sobczynska-Tomaszewska, et al.Genes|September 7, 2016
Towards a Better Molecular Diagnosis of FMR1-Related Disorders-A Multiyear Experience from a Reference LabSylwia Olimpia Rzońca, Monika Gos, Daniel Szopa, et al.International Journal of Molecular Sciences|January 21, 2023
Genetic Risk Factors for Neurological Disorders in Children with Adverse Events Following Immunization: A Descriptive Study of a Polish Case SeriesAgnieszka Charzewska, Iwona Terczyńska, Agata Lipiec, et al.Pageof 8