After an initial Hermansky–Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report

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Publikováno v: Molecular Genetics & Genomic Medicine, Vol 12, Iss 7, Pp n/a-n/a (2024)

Abstract Background Albinism is a heterogeneous condition in which patients present complete absence, reduction, or normal pigmentation in skin, hair and eyes in addition to ocular defects. One of the heterogeneous forms of albinism is observed in He

Externí odkaz: https://doaj.org/article/182374f9d0904f3cb230f3d0f6304c28

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First-trimester miscarriage: A histopathological classification proposal

Autor: Novais Nogueira Cardoso, Rosete Maria Amorim, Nogueira Cardoso, Pedro Luís Novais, Azevedo, Ana Paula, Cadillá, Jesús Siles, Oliveira Rodrigues Amorim, Maria Graça Ribeiro, Rocha Gomes, Marcos Emanuel, Correia Pinto, Jorge Manuel Nunes

Publikováno v: In Heliyon March 2021 7(3)

Health-care costs of inflammatory bowel disease in a pan-European, community-based, inception cohort during 5 years of follow-up: a population-based study

Autor: Turk, Niksa, Cukovic-Cavka, Silvija, Nicolaou, Anastasia, Lukas, Milan, Shonová, Olga, Blichfeldt, Birgitte, Marker, Dorte, Carlsen, Katrine, Weimers, Petra, Aalykke, Clays, Kudsk, Karen, Vind, Ida, Thorsgaard, Niels, Skamnelos, Alexandros, Politis, Dimitrios, Vegh, Zsuzsanna, Demenyi, Peterne, Nemethne Kramli, Szabina, Dal Piaz, Giualia, Santini, Alessia, Girardin, Giulia, Kupcinskas, Limas, Jonaitis, Laimas, Valantiene, Irena, Zykus, Romanas, Kucinskiene, Ruta, Lazar, Daniela, Nikulina, Inna, de Castro, Luisa, Pineda, Juan-Ramon, Pereira, Santos, Martinez-Cadilla, Jesus, Sanroman, Luciano, Figueira, Montserrat, Ares, David Martinez, Rodriguez-Prada, Jose-Ignacio, Carmona, Amalia, Gonzalez-Portela, Carlos, Widen, Ulla-Britt, Myers, Sally, Ashton, Katherine, Whitehead, Emma, Burisch, Johan ^*, Vardi, Hillel, Schwartz, Doron, Friger, Michael, Kiudelis, Gediminas, Kupčinskas, Juozas, Fumery, Mathurin, Gower-Rousseau, Corinne, Lakatos, Laszlo, Lakatos, Peter L, D'Incà, Renata, Sartini, Alessandro, Valpiani, Daniela, Giannotta, Martina, Arebi, Naila, Duricova, Dana, Bortlik, Martin, Chetcuti Zammit, Stefania, Ellul, Pierre, Pedersen, Natalia, Kjeldsen, Jens, Midjord, Jóngerð Maria Miné, Nielsen, Kári Rubek, Winther Andersen, Karina, Andersen, Vibeke, Katsanos, Konstantinos H, Christodoulou, Dimitrios K, Domislovic, Viktor, Krznaric, Zeljko, Sebastian, Shaji, Oksanen, Pia, Collin, Pekka, Barros, Luisa, Magro, Fernando, Salupere, Riina, Kievit, Hendrika Adriana Linda, Goldis, Adrian, Kaimakliotis, Ioannis P, Dahlerup, Jens F, Eriksson, Carl, Halfvarson, Jonas, Fernandez, Alberto, Hernandez, Vicent, Turcan, Svetlana, Belousova, Elena, Langholz, Ebbe, Munkholm, Pia, Odes, Selwyn

Publikováno v: In The Lancet Gastroenterology & Hepatology May 2020 5(5):454-464

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