Showing 1 - 16 results of 16 for search 'Anna Latos-Bielenska', query time: 0.05s
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Maternal Risk Factors Associated with Limb Reduction Defects: Data from the Polish Registry of Congenital Malformations (PRCM) by Anna Materna-Kiryluk, Katarzyna Wisniewska, Barbara Wieckowska, Jolanta Wierzba, Anna Jazdzewska, Beata Jaroszewska-Swiatek, Kinga Skotnicka, Anna Latos-Bielenska
Published 2021-02-01
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Case Report: Sequential Liver After Kidney Transplantation in a Patient With Sensenbrenner Syndrome (Cranioectodermal Dysplasia) by Joanna Ryżko, Joanna Walczak-Sztulpa, Piotr Czubkowski, Anna Latos-Bieleńska, Adam Kowalski, Marek Stefanowicz, Wioletta Jarmużek, Ryszard Grenda, Joanna Pawłowska
Published 2022-02-01
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Clinical and ultrastructural findings in an ataxic variant of Kufor-Rakeb syndrome by Anna Pietrzak, Magdalena Badura-Stronka, Tiia Kangas-Kontio, Paulina Felczak, Wojciech Kozubski, Anna Latos-Bielenska, Teresa Wierzba-Bobrowicz, Jolanta Florczak-Wyspianska
Published 2019-09-01
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FINCA syndrome—Defining neurobehavioral phenotype in survivors into late childhood by Magdalena Badura‐Stronka, Robert Śmigiel, Karolina Rutkowska, Krystyna Szymańska, Adam Sebastian Hirschfeld, Michał Monkiewicz, Joanna Kosińska, Ewelina Wolańska, Małgorzata Rydzanicz, Anna Latos‐Bieleńska, Rafał Płoski
Published 2022-04-01
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Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease by Joanna Walczak-Sztulpa, Renata Posmyk, Ewelina M. Bukowska-Olech, Anna Wawrocka, Aleksander Jamsheer, Machteld M. Oud, Miriam Schmidts, Heleen H. Arts, Anna Latos-Bielenska, Anna Wasilewska
Published 2020-02-01
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<i>CLN8</i> Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis—Literature Review and Case Report by Magdalena Badura-Stronka, Anna Winczewska-Wiktor, Anna Pietrzak, Adam Sebastian Hirschfeld, Tomasz Zemojtel, Katarzyna Wołyńska, Katarzyna Bednarek-Rajewska, Monika Seget-Dubaniewicz, Agnieszka Matheisel, Anna Latos-Bielenska, Barbara Steinborn
Published 2021-06-01
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The Voice of Parents of Children With a Congenital Anomaly – A EUROlinkCAT Study by Kristina Garne Holm, Kristina Garne Holm, Amanda Julie Neville, Anna Pierini, Anna Latos Bielenska, Anna Jamry-Dziurla, Clara Cavero-Carbonell, Ester Garne, Jane Clemensen, Jane Clemensen, Jane Clemensen
Published 2021-11-01
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Using Social Media as a Research Tool for a Bespoke Web-Based Platform for Stakeholders of Children With Congenital Anomalies: Development Study by Marlene Sinclair, Julie E M McCullough, David Elliott, Paula Braz, Clara Cavero-Carbonell, Lesley Dornan, Anna Jamry-Dziurla, Ana João Santos, Anna Latos-Bieleńska, Ausenda Machado, Lucía Páramo-Rodríguez
Published 2021-11-01
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Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with WDR35 variants by Joanna Walczak-Sztulpa, Anna Wawrocka, Łukasz Kuszel, Paulina Pietras, Marta Leśniczak-Staszak, Mirosław Andrusiewicz, Maciej R. Krawczyński, Anna Latos-Bieleńska, Marta Pawlak, Ryszard Grenda, Anna Materna-Kiryluk, Machteld M. Oud, Machteld M. Oud, Witold Szaflarski
Published 2023-12-01
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Information needs of parents of children with congenital anomalies across Europe: a EUROlinkCAT survey by Elena Marcus, Anna Latos-Bielenska, Anna Jamry-Dziurla, Ingeborg Barišić, Clara Cavero-Carbonell, Elly Den Hond, Ester Garne, Lucas Genard, Ana João Santos, LRenée Lutke, Carlos Matias Dias, Christina Neergaard Pedersen, Amanda J. Neville, Annika Niemann, Ljubica Odak, Anna Pierini, Juan Rico, Anke Rissmann, Judith Rankin, Joan K. Morris
Published 2022-11-01
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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 2022-07-01
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Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes by Robert Schöpflin, Uirá Souto Melo, Hossein Moeinzadeh, David Heller, Verena Laupert, Jakob Hertzberg, Manuel Holtgrewe, Nico Alavi, Marius-Konstantin Klever, Julius Jungnitsch, Emel Comak, Seval Türkmen, Denise Horn, Yannis Duffourd, Laurence Faivre, Patrick Callier, Damien Sanlaville, Orsetta Zuffardi, Romano Tenconi, Nehir Edibe Kurtas, Sabrina Giglio, Bettina Prager, Anna Latos-Bielenska, Ida Vogel, Merete Bugge, Niels Tommerup, Malte Spielmann, Antonio Vitobello, Vera M. Kalscheuer, Martin Vingron, Stefan Mundlos
Published 2022-10-01
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