المؤلفون: Aleksandra Bodetko, Joanna Chrzanowska, Malgorzata Rydzanicz, Agnieszka Borys-Iwanicka, Pawel Karpinski, Joanna Bladowska, Rafal Ploski, Robert Smigiel

المصدر: Genes, Vol 15, Iss 2, p 256 (2024)

مصطلحات موضوعية: ZMYND11, neurodevelopmental dysmorphic syndrome, hyperinsulinaemic hypoglycaemia, diazoxide, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/15/2/256Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/b954df41148e45dbbeed4d285e5f375cTest

المؤلفون: The International EA-QOL Group, Michaela Dellenmark Blom, Stefanie Witt, Benjamin Zendejas, Ivana Sabolić, Juan Domingo Porras-Hernandez, Natalie Durkin, Simon Eaton, Kjersti Birketvedt, Alba Sánchez Galán, Katalin Eszter Müller, Anna Rozensztrauch, Tutku Soyer, Siqi Li, Anastasia Fourtaka, Corne de Vos, Graham Slater, Ana Špoljarić, John Bennett, Ragnhild Emblem, Zita Andrásdi, Robert Smigiel, Dariusz Patkowski, Çiğdem Ulukaya Durakbaşa, Marina Stilinović, Frederic Gottrand, Dora Škrljak Šoša, Tomislav Luetić, Sylwester Gerus, Shen Yang, Yong Zhao, Yichao Gu, Shuangshuang Li, Diego Rodriguez-Alvirde, Orsolya Kadenczki, Miram Pasini, Vuokko Wallace, Anke Widenmann, Feliciana Milagres Sikwete, Jinshi Huang, Leopoldo Martínez Martínez, Kate Abrahamsson, Shawn Izadi, Benno M Ure, Daniel Sidler, Julia H Quitmann, Jens Dingemann

المصدر: Frontiers in Pediatrics, Vol 11 (2023)

مصطلحات موضوعية: esophageal atresia, quality of life, translation, validity, cognitive debriefing, rare disease, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2023.1253892/fullTest; https://doaj.org/toc/2296-2360Test

الوصول الحر: https://doaj.org/article/4829ecacbcbb4ffebab6b964fbec1314Test

المؤلفون: Justyna Paprocka, Aleksandra Jezela-Stanek, Robert Śmigiel, Anna Walczak, Hanna Mierzewska, Anna Kutkowska-Kaźmierczak, Rafał Płoski, Ewa Emich-Widera, Barbara Steinborn

المصدر: Genes; Volume 14; Issue 5; Pages: 972

مصطلحات موضوعية: KIF1A, neurodegeneration, SPG30, HSN2C, NESCAV, children

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes14050972Test

الإتاحة: https://doi.org/10.3390/genes14050972Test

المؤلفون: Izabela M. Krzyzewska, Peter Lauffer, Adri N. Mul, Liselot van der Laan, Andrew Y. F. Li Yim, Jan Maarten Cobben, Jacek Niklinski, Monika A. Chomczyk, Robert Smigiel, Marcel M. A. M. Mannens, Peter Henneman

المصدر: International Journal of Molecular Sciences; Volume 24; Issue 7; Pages: 6601

مصطلحات موضوعية: FASD, fetal alcohol spectrum disorder, gene expression, DNA methylation, eQTM

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Neurobiology; https://dx.doi.org/10.3390/ijms24076601Test

الإتاحة: https://doi.org/10.3390/ijms24076601Test

المؤلفون: Anna Rozensztrauch, Izabela Dzien, Robert Śmigiel

المصدر: Journal of Clinical Medicine; Volume 12; Issue 5; Pages: 1769

مصطلحات موضوعية: Menkes disease, quality of life, family impact, rare disease

وصف الملف: application/pdf

العلاقة: Epidemiology & Public Health; https://dx.doi.org/10.3390/jcm12051769Test

الإتاحة: https://doi.org/10.3390/jcm12051769Test

المؤلفون: Anna Rozensztrauch, Karolina Wieczorek, Iwona Twardak, Robert Śmigiel

المصدر: Frontiers in Psychiatry, Vol 14 (2023)

مصطلحات موضوعية: intellectual disability, down syndrome, family, child, quality of life, Psychiatry, RC435-571

العلاقة: https://www.frontiersin.org/articles/10.3389/fpsyt.2023.1267583/fullTest; https://doaj.org/toc/1664-0640Test; https://doaj.org/article/6a0da6974cac4b95a646be0d6c9dd2edTest

الإتاحة: https://doi.org/10.3389/fpsyt.2023.1267583Test
https://doaj.org/article/6a0da6974cac4b95a646be0d6c9dd2edTest

المؤلفون: Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi, Erica H. Gerkes, Alexander P.A. Stegmann, Estrella López-Martín, Eva Bermejo-Sánchez, Beatriz Martínez-Delgado, Christiane Zweier, Cornelia Kraus, Bernt Popp, Vincent Strehlow, Daniel Gräfe, Ina Knerr, Eppie R. Jones, Stefano Zamuner, Luciano A. Abriata, Vidya Kunnathully, Brandon E. Moeller, Anthony Vocat, Samuel Rommelaere, Jean-Philippe Bocquete, Evelyne Ruchti, Greta Limoni, Marine Van Campenhoudt, Samuel Bourgeat, Petra Henklein, Christian Gilissen, Bregje W. van Bon, Rolph Pfundt, Marjolein H. Willemsen, Jolanda H. Schieving, Emanuela Leonardi, Fiorenza Soli, Alessandra Murgia, Hui Guo, Qiumeng Zhang, Kun Xia, Christina R. Fagerberg, Christoph P. Beier, Martin J. Larsen, Irene Valenzuela, Paula Fernández-Álvarez, Shiyi Xiong, Robert Śmigiel, Vanesa López-González, Lluís Armengol, Manuela Morleo, Angelo Selicorni, Annalaura Torella, Moira Blyth, Nicola S. Cooper, Valerie Wilson, Renske Oegema, Yvan Herenger, Aurore Garde, Ange-Line Bruel, Frederic Tran Mau-Them, Alexis B.R. Maddocks, Jennifer M. Bain, Musadiq A. Bhat, Gregory Costain, Peter Kannu, Ashish Marwaha, Neena L. Champaigne, Michael J. Friez, Ellen B. Richardson, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Yask Gupta, Tze Y. Lim, Simone Sanna-Cherchi, Bruno Lemaitre, Toshiyuki Yamaji, Kentaro Hanada, John E. Burke, Ana Marjia Jakšić, Brian D. McCabe, Paolo De Los Rios, Thorsten Hornemann, Giovanni D’Angelo, Vincenzo A. Gennarino

المصدر: The Journal of Clinical Investigation, Vol 133, Iss 10 (2023)

مصطلحات موضوعية: Cell biology, Genetics, Medicine

العلاقة: https://doi.org/10.1172/JCI165019Test; https://doaj.org/toc/1558-8238Test; https://doaj.org/article/47a113198d5649e88315ddec99f2067fTest

الإتاحة: https://doi.org/10.1172/JCI165019Test
https://doaj.org/article/47a113198d5649e88315ddec99f2067fTest

المؤلفون: Michal Błoch, Piotr Gasperowicz, Sylwester Gerus, Katarzyna Rasiewicz, Arleta Lebioda, Pawel Skiba, Rafal Płoski, Dariusz Patkowski, Pawel Karpiński, Robert Śmigiel

المصدر: Genes, Vol 14, Iss 1822, p 1822 (2023)

مصطلحات موضوعية: esophageal atresia, Rho signaling pathway, epigenetics, methylation, rare disease, genomics, Genetics, QH426-470

العلاقة: https://www.mdpi.com/2073-4425/14/9/1822Test; https://doaj.org/toc/2073-4425Test; https://doaj.org/article/312f3c1a13434a8a8ee6a58cad9d5892Test

الإتاحة: https://doi.org/10.3390/genes14091822Test
https://doaj.org/article/312f3c1a13434a8a8ee6a58cad9d5892Test

المؤلفون: Magdalena, Klaniewska, Anna, Bolanowska‐Tyszko, Anna, Latos‐Bielenska, Aleksandra, Jezela‐Stanek, Krzysztof, Szczaluba, Malgorzata, Krajewska‐Walasek, Elzbieta, Ciara, Magdalena, Pelc, Dorota, Jurkiewicz, Piotr, Stawinski, Agnieszka, Zubkiewicz‐Kucharska, Małgorzata, Rydzanicz, Rafal, Ploski, Robert, Smigiel

المصدر: Molecular Genetics & Genomic Medicine ; volume 11, issue 12 ; ISSN 2324-9269 2324-9269

الإتاحة: https://doi.org/10.1002/mgg3.2265Test

المؤلفون: Jan Gehlen, Ann-Sophie Giel, Ricarda Köllges, Stephan L. Haas, Rong Zhang, Jiri Trcka, Ayse Ö. Sungur, Florian Renziehausen, Dorothea Bornholdt, Daphne Jung, Paul D. Hoyer, Agneta Nordenskjöld, Dick Tibboel, John Vlot, Manon C.W. Spaander, Robert Smigiel, Dariusz Patkowski, Nel Roeleveld, Iris ALM. van Rooij, Ivo de Blaauw, Alice Hölscher, Marcus Pauly, Andreas Leutner, Joerg Fuchs, Joel Niethammer, Maria-Theodora Melissari, Ekkehart Jenetzky, Nadine Zwink, Holger Thiele, Alina Christine Hilger, Timo Hess, Jessica Trautmann, Matthias Marks, Martin Baumgarten, Gaby Bläss, Mikael Landén, Bengt Fundin, Cynthia M. Bulik, Tracie Pennimpede, Michael Ludwig, Kerstin U. Ludwig, Elisabeth Mangold, Stefanie Heilmann-Heimbach, Susanne Moebus, Bernhard G. Herrmann, Kristina Alsabeah, Carmen M. Burgos, Helene E. Lilja, Sahar Azodi, Pernilla Stenström, Einar Arnbjörnsson, Barbora Frybova, Dariusz M. Lebensztejn, Wojciech Debek, Elwira Kolodziejczyk, Katarzyna Kozera, Jaroslaw Kierkus, Piotr Kaliciński, Marek Stefanowicz, Anna Socha-Banasiak, Michal Kolejwa, Anna Piaseczna-Piotrowska, Elzbieta Czkwianianc, Markus M. Nöthen, Phillip Grote, Michal Rygl, Konrad Reinshagen, Nicole Spychalski, Barbara Ludwikowski, Jochen Hubertus, Andreas Heydweiller, Benno Ure, Oliver J. Muensterer, Ophelia Aubert, Jan-Hendrik Gosemann, Martin Lacher, Petra Degenhardt, Thomas M. Boemers, Anna Mokrowiecka, Ewa Małecka-Panas, Markus Wöhr, Michael Knapp, Guido Seitz, Annelies de Klein, Grzegorz Oracz, Erwin Brosens, Heiko Reutter, Johannes Schumacher

المصدر: HGG Advances, Vol 3, Iss 2, Pp 100093- (2022)

مصطلحات موضوعية: genome-wide association study (GWAS), esophageal atresia (EA), multifactorial diseases, CTNNA3, FOXF1/FOXC2/FOXL1, HNF1B, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2666247722000094Test; https://doaj.org/toc/2666-2477Test

الوصول الحر: https://doaj.org/article/e9a5e2a8eb8e4559958fd4286f773ad1Test