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Pediatric Pulmonology|May 23, 2020
Clinical characteristics of rare CFTR mutations causing cystic fibrosis in Polish populationKatarzyna Zybert, Lukasz Wozniacki, Agnieszka Tomaszewska-Sobczyńska, et al.Postepy Dermatologii I Alergologii|February 7, 2022
Bullous diseases caused by KRT1 gene mutations: from epidermolytic hyperkeratosis to a novel variant of epidermolysis bullosa simplexKatarzyna Osipowicz, Katarzyna Wertheim-Tysarowska, Bartłomiej Kwiek, et al.Developmental Period Medicine|March 10, 2016
CHRONIC PANCREATITIS IN A PATIENT WITH THE p.Asn34Ser HOMOZYGOUS SPINK1 MUTATION--OWN EXPERIENCEAgnieszka Magdalena Rygiel, Małgorzata Wojnicka-Stolarz, Katarzyna Niepokój, et al.Journal of Pediatric Genetics|August 22, 2022
Chronic pancreatitis caused by a Homozygous SPINK1 c.194 + 2T > C variant and Pancreas Divisum in a 3-year-old child-case reportKatarzyna Zdanowicz, Miroslawa Uscinowicz, Magdalena Rakowska, et al.Journal of Applied Genetics|January 11, 2015
Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes' clinical diagnosticsAnna Kutkowska-Kaźmierczak, Katarzyna Niepokój, Katarzyna Wertheim-Tysarowska, 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.Human Mutation|November 8, 2011
The COL7A1 mutation databaseKatarzyna Wertheim-Tysarowska, Agnieszka Sobczyńska-Tomaszewska, Cezary Kowalewski, et al.Acta Biochimica Polonica|September 13, 2022
Fatty acid profiles in various lipid fractions in the female epidermis. Does the body site and age matter?Adriana Mika, Alicja Pakiet, Orest Szczygielski, et al.Journal of Clinical Medicine|March 28, 2024
The Depressiveness, Quality of Life and NEO-FFI Scale in Patients with Selected GenodermatosesBartlomiej Wawrzycki, Magdalena Fryze, Radosław Mlak, et al.Pageof 5