Application of Original Therapy for Stimulation of Oral Areas Innervated by the Trigeminal Nerve in a Child with Beckwith–Wiedemann Syndrome

por Pawlukowska, Wioletta, Patalan, Michał, Bagińska, Ewelina, Giżewska, Maria, Masztalewicz, Marta
Publicado 2023

Patient with Phenylketonuria and Intellectual Disability—Problem Not Always Caused Exclusively by Insufficient Metabolic Control (Coexistence of PKU and Alazami Syndrome)

por Patalan, Michał, Leśniak, Alicja, Bernatowicz, Krzysztof, Romanowska, Hanna, Krzywińska-Zdeb, Elżbieta, Walczak, Mieczysław, Giżewska, Maria
Publicado 2022

Phenylketonuria Patients’ and Their Caregivers’ Perception of the Pandemic Lockdown: The Results of a National Online Survey

por Walkowiak, Dariusz, Mikołuć, Bożena, Mozrzymas, Renata, Kałużny, Łukasz, Didycz, Bożena, Korycińska-Chaaban, Dorota, Patalan, Michał, Jagłowska, Joanna, Chrobot, Agnieszka, Staszewski, Rafał, Walkowiak, Jarosław
Publicado 2022

The Impact of the COVID-19 Pandemic on the Perception of Health and Treatment-Related Issues among Patients with Phenylketonuria in Poland—The Results of a National Online Survey

por Walkowiak, Dariusz, Mikołuć, Bożena, Mozrzymas, Renata, Kałużny, Łukasz, Didycz, Bożena, Korycińska-Chaaban, Dorota, Patalan, Michał, Jagłowska, Joanna, Chrobot, Agnieszka, Starostecka, Ewa, Zarębska, Joanna, Walkowiak, Jarosław
Publicado 2021

Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration

por Giżewska, Maria, Durda, Katarzyna, Winter, Theresa, Ostrowska, Iwona, Ołtarzewski, Mariusz, Klein, Jeannette, Blankenstein, Oliver, Romanowska, Hanna, Krzywińska-Zdeb, Elżbieta, Patalan, Michał Filip, Bartkowiak, Elżbieta, Szczerba, Natalia, Seiberling, Stefan, Birkenfeld, Bożena, Nauck, Matthias, von Bernuth, Horst, Meisel, Christian, Bernatowska, Ewa Anna, Walczak, Mieczysław, Pac, Małgorzata
Publicado 2020

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

por Docherty, Louise E., Rezwan, Faisal I., Poole, Rebecca L., Turner, Claire L. S., Kivuva, Emma, Maher, Eamonn R., Smithson, Sarah F., Hamilton-Shield, Julian P., Patalan, Michal, Gizewska, Maria, Peregud-Pogorzelski, Jaroslaw, Beygo, Jasmin, Buiting, Karin, Horsthemke, Bernhard, Soellner, Lukas, Begemann, Matthias, Eggermann, Thomas, Baple, Emma, Mansour, Sahar, Temple, I. Karen, Mackay, Deborah J. G.
Publicado 2015

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

por Begemann, Matthias, Rezwan, Faisal I, Beygo, Jasmin, Docherty, Louise E, Kolarova, Julia, Schroeder, Christopher, Buiting, Karin, Chokkalingam, Kamal, Degenhardt, Franziska, Wakeling, Emma L, Kleinle, Stephanie, González Fassrainer, Daniela, Oehl-Jaschkowitz, Barbara, Turner, Claire L S, Patalan, Michal, Gizewska, Maria, Binder, Gerhard, Bich Ngoc, Can Thi, Chi Dung, Vu, Mehta, Sarju G, Baynam, Gareth, Hamilton-Shield, Julian P, Aljareh, Sara, Lokulo-Sodipe, Oluwakemi, Horton, Rachel, Siebert, Reiner, Elbracht, Miriam, Temple, Isabel Karen, Eggermann, Thomas, Mackay, Deborah J G
Publicado 2018