Neurodevelopmental Stimulation of a Child with a Noonan Syndrome with a Non-Frequent Mutation in RAF1 Gene — Case Report by Teresa Kaczan, Robert Śmigiel, Magdalena Kazimierska-Zając, Robert Dymarek, Joanna Rosińczuk

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Early Therapeutic Intervention in a Child with Beckwith–Wiedemann Syndrome in Inpatient and Outpatient Conditions — Case Report by Teresa Kaczan, Robert Śmigiel, Magdalena Kazimierska-Zając, Robert Dymarek, Joanna Rosińczuk

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Transient severe hypotonic hyponatraemia in children – presentation of three cases by Joanna A. Chrzanowska, Julia Wodniakowska, Aleksander Basiak, Agnieszka Zubkiewicz-Kucharska, Robert Śmigiel

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Case Report: Hypergonadotropic hypogonadism in an elite athlete with variant in FSH receptor gene—clinical and sports implications of proper diagnosis by Monika Skrzypiec-Spring, Agnieszka Zubkiewicz-Kucharska, Magdalena Pasińska, Michał Rabijewski, Robert Śmigiel, Adam Szeląg

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Case Report: The long-term effects of the empagliflozin therapy on glycemia and renal function in a patient with Rabson-Mendenhall syndrome caused by two heterozygous variants in I... by Joanna Chrzanowska, Julia Lachowska, Maja Weimann, Agnieszka Zubkiewicz-Kucharska, Konstancja Fornalczyk, Katarzyna Kilis-Pstrusińska, Robert Smigiel

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Inherited glycosylphosphatidylinositol deficiency disorders: a new group of inherited metabolic disorders by Michał Patalan, Alicja Leśniak, Justyna Paprocka, Agnieszka Zubkiewicz-Kucharska, Kaja Giżewska-Kacprzak, Marta Glińska, Lidia Babiak-Choroszczak, Maria Giżewska, Robert Śmigiel

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Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. by Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A Graham, Sipko van Dam, Julie Hoover-Fong, Aida B Telegrafi, Anne Destree, Robert Smigiel, Lindsday A Lambie, Hülya Kayserili, Umut Altunoglu, Elisabetta Lapi, Maria Luisa Uzielli, Mariana Aracena, Banu G Nur, Ercan Mihci, Lilia M A Moreira, Viviane Borges Ferreira, Dafne D G Horovitz, Katia M da Rocha, Aleksandra Jezela-Stanek, Alice S Brooks, Heiko Reutter, Julie S Cohen, Ali Fatemi, Martin Smitka, Theresa A Grebe, Nataliya Di Donato, Charu Deshpande, Anthony Vandersteen, Charles Marques Lourenço, Andreas Dufke, Eva Rossier, Gwenaelle Andre, Alessandra Baumer, Careni Spencer, Julie McGaughran, Lude Franke, Joris A Veltman, Bert B A De Vries, Albert Schinzel, Simon E Fisher, Alexander Hoischen, Bregje W van Bon

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