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31دورية أكاديمية
المؤلفون: Anna Hogendorf, Maciej Zieliński, Maria Constantinou, Robert Śmigiel, Jolanta Wierzba, Krystyna Wyka, Anna Wędrychowicz, Anna Jakubiuk-Tomaszuk, Edyta Budzynska, Malgorzata Piotrowicz, Beata S. Lipska-Ziętkiewicz, Ewa Kaczorowska, Agata Cieślikowska, Anna Kutkowska-Kaźmierczak, Jolanta Fijak-Moskal, Monika Kugaudo, Małgorzata Kosińska-Urbańska, Agnieszka Szadkowska, Maciej Borowiec, Maciej Niedźwiecki, Piotr Trzonkowski, Wojciech Młynarski
المصدر: Frontiers in Immunology, Vol 12 (2021)
مصطلحات موضوعية: 18q deletion syndrome, immune deficiency, type 1 diabetes, autoimmune diseases, thyroiditis, T regulatory cells, Immunologic diseases. Allergy, RC581-607
العلاقة: https://www.frontiersin.org/articles/10.3389/fimmu.2021.742834/fullTest; https://doaj.org/toc/1664-3224Test; https://doaj.org/article/27d4cd25ece548db9cc37e3550613412Test
الإتاحة: https://doi.org/10.3389/fimmu.2021.742834Test
https://doaj.org/article/27d4cd25ece548db9cc37e3550613412Test -
32دورية أكاديمية
المؤلفون: Anna Rozensztrauch, Agnieszka Sebzda, Robert Śmigiel
المصدر: Journal of International Medical Research, Vol 49 (2021)
مصطلحات موضوعية: Medicine (General), R5-920
العلاقة: https://doi.org/10.1177/03000605211007714Test; https://doaj.org/toc/1473-2300Test; https://doaj.org/article/1bdd01a7bc7c4707b8a43104a3d03caaTest
الإتاحة: https://doi.org/10.1177/03000605211007714Test
https://doaj.org/article/1bdd01a7bc7c4707b8a43104a3d03caaTest -
33دورية أكاديمية
المصدر: Annals of Agricultural and Environmental Medicine, Vol 28, Iss 1, Pp 94-98 (2021)
مصطلحات موضوعية: psychometric evaluation, polish validation study, neonatal nursing, care rationing, neonatal extent of work rationing instrument, Agriculture, Environmental sciences, GE1-350
العلاقة: http://www.aaem.pl/Translation-and-psychometric-testing-of-the-Polish-version-of-the-Neonatal-Extent,116907,0,2.htmlTest; https://doaj.org/toc/1232-1966Test; https://doaj.org/toc/1898-2263Test; https://doaj.org/article/6db8887a4589478d9175c8e41bb67ecaTest
الإتاحة: https://doi.org/10.26444/aaem/116907Test
https://doaj.org/article/6db8887a4589478d9175c8e41bb67ecaTest -
34دورية أكاديمية
المؤلفون: Paprocka, Justyna, Nowak, Magdalena, Nieć, Maria, Janik, Izabela, Rydzanicz, Małgorzata, Robert, Śmigiel, Klaniewska, Magdalena, Rutkowska, Karolina, Płoski, Rafał, Jezela-Stanek, Aleksandra
المصدر: Frontiers in Medicine ; volume 8 ; ISSN 2296-858X
مصطلحات موضوعية: General Medicine
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35دورية أكاديمية
المؤلفون: Ryszard Slezak, Robert Smigiel, Malgorzata Rydzanicz, Agnieszka Pollak, Joanna Kosinska, Piotr Stawinski, Maria Malgorzata Sasiadek, Rafal Ploski
المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
مصطلحات موضوعية: intellectual disability, psychomotor delay, SON gene, Zhu‐Tokita‐Takenouchi‐Kim syndrome, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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36دورية أكاديمية
المؤلفون: Robert Śmigiel, Mateusz Biela, Krzysztof Szmyd, Michal Błoch, Elżbieta Szmida, Paweł Skiba, Anna Walczak, Piotr Gasperowicz, Joanna Kosińska, Małgorzata Rydzanicz, Piotr Stawiński, Anna Biernacka, Marzena Zielińska, Waldemar Gołębiowski, Agnieszka Jalowska, Grażyna Ohia, Bożena Głowska, Wojciech Walas, Barbara Królak-Olejnik, Paweł Krajewski, Jolanta Sykut-Cegielska, Maria M. Sąsiadek, Rafał Płoski
المصدر: Journal of Clinical Medicine; Volume 9; Issue 7; Pages: 2220
مصطلحات موضوعية: WES, pediatric intensive care unit, genetic disorders, NGS, novel diseases, first-tier tests, mitochondrial disorders
وصف الملف: application/pdf
العلاقة: Clinical Laboratory Medicine; https://dx.doi.org/10.3390/jcm9072220Test
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37دورية أكاديمية
المؤلفون: Martyna Jakimiec, Justyna Paprocka, Robert Śmigiel
المصدر: Brain Sciences; Volume 10; Issue 2; Pages: 107
مصطلحات موضوعية: CDKL5 deficiency disorder, children, epilepsy
وصف الملف: application/pdf
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39دورية أكاديمية
المؤلفون: Ivan Ivanovski, Olivera Djuric, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Simonetta Rosato, Duccio Maria Cordelli, Ebtesam Abballa, Patrizia Accorsi, Margaret P. Adam, Paola Francesca Ajmone, Magdalena Badura-Stronka, Chiara Baldo, Maddalena Baldi, Allan Bayat, Stefania Bigoni, Federico Bonvicini, Jeroen Breckpot, Bert Callewaert, Guido Cocchi, Goran Cuturilo, Daniele De Brasi, Koenraad Devriendt Mary Beth Dinulos, Tina Duelund Hjortshøj, Roberta Epifanio, Francesca Faravelli, Agata Fiumara, Debora Formisano, Lucio Giordano, Marina Grasso, Sabine Grønborg, Alessandro Iodice, Lorenzo Iughetti, Vladimir Kuburovic, Anna Kutkowska-Kazmierczak, Didier Lacombe, Caterina Lo Rizzo, Anna Luchetti, Baris Malbora, Isabella Mammi, Francesca Mari, Giulia Montorsi, Sebastien Moutton, Rikke S. Møller, Petra Muschke, Jens Erik Klint Nielsen, Ewa Obersztyn, Chiara Pantaleoni, Alessandro Pellicciari, Maria Antonietta Pisanti, Igor Prpic, Maria Luisa Poch-Olive, Federico Raviglione, Alessandra Renieri, Emilia Ricci, Francesca Rivieri, Gijs W. Santen, Salvatore Savasta, Gioacchino Scarano, Ina Schanze, Angelo Selicorni, Margherita Silengo, Robert Smigiel, Luigina Spaccini, Giovanni Sorge, Krzysztof Szczaluba, Luigi Tarani, Luis Gonzaga Tone, Annick Toutain, Aurelien Trimouille, Elvis Terci Valera, Samantha Schrier Vergano, Nicoletta Zanotta, Martin Zenker, Andrea Conidi, Marcella Zollino, Anita Rauch, Christiane Zweier, Livia Garavelli
المساهمون: Ivan Ivanovski, Olivera Djuric, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Simonetta Rosato, Duccio Maria Cordelli, Ebtesam Abballa, Patrizia Accorsi, Margaret P. Adam, Paola Francesca Ajmone, Magdalena Badura-Stronka, Chiara Baldo, Maddalena Baldi, Allan Bayat, Stefania Bigoni, Federico Bonvicini, Jeroen Breckpot, Bert Callewaert, Guido Cocchi, Goran Cuturilo, Daniele De Brasi, Koenraad Devriendt Mary Beth Dinulos, Tina Duelund Hjortshøj, Roberta Epifanio, Francesca Faravelli, , Agata Fiumara, Debora Formisano, Lucio Giordano, Marina Grasso, Sabine Grønborg, Alessandro Iodice, Lorenzo Iughetti, Vladimir Kuburovic, Anna Kutkowska-Kazmierczak, Didier Lacombe, Caterina Lo Rizzo, Anna Luchetti, Baris Malbora, Isabella Mammi, Francesca Mari, Giulia Montorsi, Sebastien Moutton, Rikke S. Møller, Petra Muschke, Jens Erik Klint Nielsen, Ewa Obersztyn, Chiara Pantaleoni, Alessandro Pellicciari, Maria Antonietta Pisanti, Igor Prpic, Maria Luisa Poch-Olive, Federico Raviglione, Alessandra Renieri, Emilia Ricci, Francesca Rivieri, Gijs W. Santen, Salvatore Savasta, Gioacchino Scarano, Ina Schanze, Angelo Selicorni, Margherita Silengo, Robert Smigiel, Luigina Spaccini, Giovanni Sorge, Krzysztof Szczaluba, Luigi Tarani, Luis Gonzaga Tone, Annick Toutain, Aurelien Trimouille, Elvis Terci Valera, Samantha Schrier Vergano, Nicoletta Zanotta, Martin Zenker, Andrea Conidi, Marcella Zollino, Anita Rauch, Christiane Zweier, Livia Garavelli
مصطلحات موضوعية: Hirschsprung, intellectual disability, management, Mowat–Wilson syndrome, ZEB2
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29300384; info:eu-repo/semantics/altIdentifier/wos/WOS:000445531800009; volume:20; issue:9; firstpage:965; lastpage:975; numberofpages:11; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11585/645446Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85050603332; https://www.nature.com/articles/gim2017221Test
الإتاحة: https://doi.org/10.1038/gim.2017.221Test
http://hdl.handle.net/11585/645446Test
https://www.nature.com/articles/gim2017221Test -
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المؤلفون: Maike F. Dohrn, Adriana P. Rebelo, Siddharth Srivastava, Gerarda Cappuccio, Robert Smigiel, Alka Malhotra, Donald Basel, Ingrid van de Laar, Rinze Frederik Neuteboom, Coranne Aarts-Tesselaar, Sonal Mahida, Nicola Brunetti-Pierri, Ryan J. Taft, Stephan Züchner
المساهمون: Dohrn, Maike F, Rebelo, Adriana P, Srivastava, Siddharth, Cappuccio, Gerarda, Smigiel, Robert, Malhotra, Alka, Basel, Donald, van de Laar, Ingrid, Neuteboom, Rinze Frederik, Aarts-Tesselaar, Coranne, Mahida, Sonal, Brunetti-Pierri, Nicola, Taft, Ryan J, Züchner, Stephan, Clinical Genetics, Neurology
المصدر: Neurology, 98(11), 440-445. Lippincott Williams & Wilkins
مصطلحات موضوعية: Phenotype, Intellectual Disability, Mutation, Migraine with Aura, Syndrome, Neurology (clinical), Sodium-Potassium-Exchanging ATPase, Human
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bb4e8077d58c5414fe73db2ba434859Test
https://doi.org/10.1212/wnl.0000000000013276Test