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The Polish Version of the Alberta Infant Motor Scale: Cultural Adaptation and Validation by Małgorzata Eliks, Małgorzata Eliks, Anna Sowińska, Ewa Gajewska
Published 2022-07-01Get full text
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X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1–4 Genes by Aleksandra Rojek, Maciej R. Krawczynski, Aleksander Jamsheer, Anna Sowinska-Seidler, Barbara Iwaniszewska, Ewa Malunowicz, Marek Niedziela
Published 2016-01-01Get full text
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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 2023-10-01Get full text
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Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach by Ewelina M. Olech, Tomasz Zemojtel, Anna Sowińska-Seidler, Peter N. Robinson, Stefan Mundlos, Marek Karczewski, Aleksander Jamsheer
Published 2016-05-01Get full text
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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 2022-10-01Get full text
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Searching for new genes and loci involved in cleft lip and palate in the Polish population – genome-wide association study by Adrianna Mostowska, Kamil K. Hozyasz, Piotr Wójcicki, Barbara Biedziak, Joanna Wesoły, Anna Sowińska, Sylwia Matuszewska-Trojan, Paweł P. Jagodziński
Published 2014-09-01Get full text
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Long noncoding RNA CCAT1 rs67085638 SNP contribution to the progression of gastric cancer in a Polish population by Tomasz Olesiński, Anna Lutkowska, Adam Balcerek, Anna Sowińska, P Piotrowski, Tomasz Trzeciak, Tomasz Maj, Piotr Hevelke, Pawel P. Jagodziński
Published 2021-07-01Get full text
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The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings by Anna Sowińska-Seidler, Paweł Sztromwasser, Paweł Sztromwasser, Katarzyna Zawadzka, Dawid Sielski, Ewelina Bukowska-Olech, Paweł Zawadzki, Paweł Zawadzki, Kazimierz Kozłowski, Aleksander Jamsheer, Aleksander Jamsheer
Published 2020-10-01Get full text
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The Effectiveness of Multi-Session FMT Treatment in Active Ulcerative Colitis Patients: A Pilot Study by Dorota Mańkowska-Wierzbicka, Marta Stelmach-Mardas, Marcin Gabryel, Hanna Tomczak, Marzena Skrzypczak-Zielińska, Oliwia Zakerska-Banaszak, Anna Sowińska, Dagmara Mahadea, Alina Baturo, Łukasz Wolko, Ryszard Słomski, Agnieszka Dobrowolska
Published 2020-08-01Get full text
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The Effect of VASER Abdominal Liposuction on Metabolic Profile in Overweight Males by Magdalena Gibas-Dorna MD, PhD, Monika Szulińska MD, PhD, Piotr Turkowski MD, Justyna Kupsz PhD, Anna Sowińska PhD, Kinga Mikrut PhD, Małgorzata Bernatek MD, Jacek Piatek MD, PhD
Published 2017-03-01Get full text
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The Role of MECP2 and CCR5 Polymorphisms on the Development and Course of Systemic Lupus Erythematosus by Ewa Rzeszotarska, Anna Sowinska, Barbara Stypinska, Ewa Walczuk, Anna Wajda, Anna Lutkowska, Anna Felis-Giemza, Marzena Olesinska, Mariusz Puszczewicz, Dominik Majewski, Pawel Piotr Jagodzinski, Michal Czerewaty, Damian Malinowski, Andrzej Pawlik, Malgorzata Jaronczyk, Agnieszka Paradowska-Gorycka
Published 2020-03-01Get full text
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Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects by Ewelina Bukowska-Olech, Anna Sowińska-Seidler, Dawid Larysz, Dawid Larysz, Paweł Gawliński, Grzegorz Koczyk, Grzegorz Koczyk, Delfina Popiel, Lidia Gurba-Bryśkiewicz, Anna Materna-Kiryluk, Anna Materna-Kiryluk, Zuzanna Adamek, Aleksandra Szczepankiewicz, Paweł Dominiak, Filip Glista, Karolina Matuszewska, Karolina Matuszewska, Aleksander Jamsheer, Aleksander Jamsheer
Published 2022-04-01Get full text
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Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis by Joanna Walczak-Sztulpa, Anna Wawrocka, Cenna Doornbos, Ronald van Beek, Ronald van Beek, Anna Sowińska-Seidler, Aleksander Jamsheer, Aleksander Jamsheer, Ewelina Bukowska-Olech, Anna Latos-Bieleńska, Ryszard Grenda, Ernie M. H. F. Bongers, Miriam Schmidts, Miriam Schmidts, Ewa Obersztyn, Maciej R. Krawczyński, Maciej R. Krawczyński, Machteld M. Oud, Machteld M. Oud
Published 2022-07-01Get full text
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