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A genotype–phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locus by Anna Sowińska-Seidler, Magdalena Socha, Anna Szoszkiewicz, Anna Materna-Kiryluk, Anna Materna-Kiryluk, Aleksander Jamsheer, Aleksander Jamsheer
Published 2023-10-01
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An Assessment of Selected Molecular and Biochemical Markers of the Folate Pathway as Potential Risk Factors for Fetal Trisomy 21 during the First Trimester of Pregnancy in the Poli... by Katarzyna Ziółkowska, Kinga Toboła-Wróbel, Marek Pietryga, Grażyna Kasprzak, Aleksander Jamsheer, Ewa Wysocka
Published 2022-02-01
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Case report: The cardio-facio-cutaneous syndrome due to a novel germline mutation in MAP2K1: A multifaceted disease with immunodeficiency and short stature by Aleksandra Szczawińska-Popłonyk, Natalia Popłonyk, Marek Niedziela, Anna Sowińska-Seidler, Paweł Sztromwasser, Paweł Sztromwasser, Aleksander Jamsheer, Monika Obara-Moszyńska
Published 2022-10-01
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New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism by Agnieszka Gach, Iwona Pinkier, Urszula Wysocka, Kinga Sałacińska, Dominik Salachna, Maria Szarras-Czapnik, Aleksandra Pietrzyk, Agata Sakowicz, Anna Nykel, Lena Rutkowska, Magda Rybak-Krzyszkowska, Magda Socha, Aleksander Jamsheer, Lucjusz Jakubowski
Published 2020-09-01
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NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study by Kinga Sałacińska, Iwona Pinkier, Lena Rutkowska, Danuta Chlebna-Sokół, Elżbieta Jakubowska-Pietkiewicz, Izabela Michałus, Łukasz Kępczyński, Dominik Salachna, Nina Wieczorek-Cichecka, Małgorzata Piotrowicz, Tatiana Chilarska, Aleksander Jamsheer, Paweł Matusik, Małgorzata Wilk, Elżbieta Petriczko, Maria Giżewska, Iwona Stecewicz, Mieczysław Walczak, Magda Rybak-Krzyszkowska, Andrzej Lewiński, Agnieszka Gach
Published 2023-09-01
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