المؤلفون: Raquel Gouveia-Silva, João Rodrigues-Alves, Juliette Dupont, Oana Moldovan, Patrícia Dias, Márcia Rodrigues, Ana Medeira, Ana B. Sousa

المصدر: Portuguese Journal of Pediatrics, Vol 55, Iss 1 (2024)

مصطلحات موضوعية: DYRK1A. Intellectual disability. Portuguese cohort., Pediatrics, RJ1-570, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://pjp.spp.pt/frame_eng.php?id=36Test; https://doaj.org/toc/2184-4453Test

الوصول الحر: https://doaj.org/article/cbf295cbe7784410bd90a9db31e339b5Test

المؤلفون: Ivan Ivanovski, Olivera Djuric, Serena Broccoli, Stefano Giuseppe Caraffi, Patrizia Accorsi, Margaret P. Adam, Kristina Avela, Magdalena Badura-Stronka, Allan Bayat, Jill Clayton-Smith, Isabella Cocco, Duccio Maria Cordelli, Goran Cuturilo, Veronica Di Pisa, Juliette Dupont Garcia, Roberto Gastaldi, Lucio Giordano, Andrea Guala, Christina Hoei-Hansen, Mie Inaba, Alessandro Iodice, Jens Erik Klint Nielsen, Vladimir Kuburovic, Brissia Lazalde-Medina, Baris Malbora, Seiji Mizuno, Oana Moldovan, Rikke S. Møller, Petra Muschke, Valeria Otelli, Chiara Pantaleoni, Carmelo Piscopo, Maria Luisa Poch-Olive, Igor Prpic, Purificación Marín Reina, Federico Raviglione, Emilia Ricci, Emanuela Scarano, Graziella Simonte, Robert Smigiel, George Tanteles, Luigi Tarani, Aurelien Trimouille, Elvis Terci Valera, Samantha Schrier Vergano, Karin Writzl, Bert Callewaert, Salvatore Savasta, Maria Elisabeth Street, Lorenzo Iughetti, Sergio Bernasconi, Paolo Giorgi Rossi, Livia Garavelli

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)

مصطلحات موضوعية: Mowat-Wilson syndrome, ZEB2, Growth charts, Weight, Length, Height, Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13023-020-01418-4Test; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/80124a98602c4794863224c650289c08Test

المؤلفون: Patrícia Lipari Pinto, Catarina Machado, Patrícia Janeiro, Juliette Dupont, Sofia Quintas, Ana Berta Sousa, Ana Gaspar

المصدر: JIMD Reports, Vol 53, Iss 1, Pp 2-9 (2020)

مصطلحات موضوعية: congenital disorders of deglycosylation, dyskinesia, global developmental delay, NGLY1, whole exome sequencing, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2192-8312Test

الوصول الحر: https://doaj.org/article/29dc8333e01c4efd916f41810852bfb1Test

المؤلفون: Fátima Lopes, Fátima Torres, Gabriela Soares, Mafalda Barbosa, João Silva, Frederico Duque, Miguel Rocha, Joaquim Sá, Guiomar Oliveira, Maria João Sá, Teresa Temudo, Susana Sousa, Carla Marques, Sofia Lopes, Catarina Gomes, Gisela Barros, Arminda Jorge, Felisbela Rocha, Cecília Martins, Sandra Mesquita, Susana Loureiro, Elisa Maria Cardoso, Maria José Cálix, Andreia Dias, Cristina Martins, Céu R. Mota, Diana Antunes, Juliette Dupont, Sara Figueiredo, Sónia Figueiroa, Susana Gama-de-Sousa, Sara Cruz, Adriana Sampaio, Paul Eijk, Marjan M. Weiss, Bauke Ylstra, Paula Rendeiro, Purificação Tavares, Margarida Reis-Lima, Jorge Pinto-Basto, Ana Maria Fortuna, Patrícia Maciel

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-13 (2019)

مصطلحات موضوعية: CNVs, Neurodevelopment, Genotype-phenotype correlation, CUL4B overexpression, Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13023-019-1135-0Test; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/bb7b4f8ceb644b0184506045e0ebf972Test

المؤلفون: Catarina Silvestre, Juliette Dupont, Rosário Silveira Santos, Brígida Robalo, Carla Pereira, Maria Lurdes Sampaio

المصدر: Case Reports in Pediatrics, Vol 2019 (2019)

مصطلحات موضوعية: Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2090-6803Test; https://doaj.org/toc/2090-6811Test

الوصول الحر: https://doaj.org/article/e52befb2d9324dc8a9c75b6d6cc7d49aTest

المؤلفون: Uwe Kornak, Namrata Saha, Boris Keren, Alexander Neumann, Ana Lisa Taylor Tavares, Juliette Piard, Johannes Kopp, João Guilherme Rodrigues Alves, Miguel Rodríguez de los Santos, Naji El Choubassi, Nadja Ehmke, Marten Jäger, Malte Spielmann, Jean Tori Pantel, Elodie Lejeune, Beatrix Fauler, Thorsten Mielke, Jochen Hecht, David Meierhofer, Tim M. Strom, Vincent Laugel, Alexis Brice, Stefan Mundlos, Aida Bertoli-Avella, Peter Bauer, Florian Heyd, Odile Boute, Juliette Dupont, Christel Depienne, Lionel Van Maldergem, Björn Fischer-Zirnsak

المصدر: Genetics in Medicine. 24:1927-1940

مصطلحات موضوعية: Alternative Splicing, Lipodystrophy, Developmental Disabilities, RNA Splicing, Medizin, Humans, RNA-Binding Proteins, Child, Introns, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a757c26002f39f2be33630ad4c51a8dcTest
https://doi.org/10.1016/j.gim.2022.05.004Test

المؤلفون: Ivanovski, Ivan, Djuric, Olivera, Broccoli, Serena, Caraffi, Stefano Giuseppe, Accorsi, Patrizia, Adam, Margaret P., Avela, Kristiina, Badura-Stronka, Magdalena, Bayat, Allan, Clayton-Smith, Jill, Cocco, Isabella, Cordelli, Duccio Maria, Cuturilo, Goran, Di Pisa, Veronica, Garcia, Juliette Dupont, Gastaldi, Roberto, Giordano, Lucio, Guala, Andrea, Hoei-Hansen, Christina, Inaba, Mie, Iodice, Alessandro, Nielsen, Jens Erik Klint, Kuburovic, Vladimir, Lazalde-Medina, Brissia, Malbora, Baris, Mizuno, Seiji, Moldovan, Oana, Moller, Rikke S., Muschke, Petra, Otelli, Valeria, Pantaleoni, Chiara, Piscopo, Carmelo, Poch-Olive, Maria Luisa, Prpic, Igor, Reina, Purificacion Marin, Raviglione, Federico, Ricci, Emilia, Scarano, Emanuela, Simonte, Graziella, Smigiel, Robert, Tanteles, George, Tarani, Luigi, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Writzl, Karin, Callewaert, Bert, Savasta, Salvatore, Street, Maria Elisabeth, Iughetti, Lorenzo, Bernasconi, Sergio, Rossi, Paolo Giorgi, Garavelli, Livia

المساهمون: HUSLAB, Clinicum, Department of Medical and Clinical Genetics, Helsinki University Hospital Area

مصطلحات موضوعية: Mowat-Wilson syndrome, ZEB2, Growth charts, Weight, Length, Height, Head circumference, Body mass index, BMI, FEATURES, CHILDREN, INDIVIDUALS, DELINEATION, STATISTICS, MUTATIONS, DISEASE, AGE, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology

وصف الملف: application/pdf

العلاقة: The authors thank the Galliera Genetic Bank, member of the Telethon Genetic Biobank Network (project GTB12001), funded by Telethon Italy, and the Associazione Italiana Mowat Wilson ONLUS for assistance in managing patients' samples. We also thank all cooperating family members for contributing the medical data necessary for this study. In addition, we are grateful to Luca Valcavi for helping with the design and adaptation of the figures.; Ivanovski , I , Djuric , O , Broccoli , S , Caraffi , S G , Accorsi , P , Adam , M P , Avela , K , Badura-Stronka , M , Bayat , A , Clayton-Smith , J , Cocco , I , Cordelli , D M , Cuturilo , G , Di Pisa , V , Garcia , J D , Gastaldi , R , Giordano , L , Guala , A , Hoei-Hansen , C , Inaba , M , Iodice , A , Nielsen , J E K , Kuburovic , V , Lazalde-Medina , B , Malbora , B , Mizuno , S , Moldovan , O , Moller , R S , Muschke , P , Otelli , V , Pantaleoni , C , Piscopo , C , Poch-Olive , M L , Prpic , I , Reina , P M , Raviglione , F , Ricci , E , Scarano , E , Simonte , G , Smigiel , R , Tanteles , G , Tarani , L , Trimouille , A , Valera , E T , Vergano , S S , Writzl , K , Callewaert , B , Savasta , S , Street , M E , Iughetti , L , Bernasconi , S , Rossi , P G & Garavelli , L 2020 , ' Mowat-Wilson syndrome : growth charts ' , Orphanet journal of rare diseases , vol. 15 , no. 1 , 151 . https://doi.org/10.1186/s13023-020-01418-4Test; beec37b4-2380-47bd-92d2-1d1143f364a2; http://hdl.handle.net/10138/317794Test; 000542252700002

الإتاحة: http://hdl.handle.net/10138/317794Test

المؤلفون: Ricardo Moreno Traspas, Tze Shin Teoh, Pui-Mun Wong, Michael Maier, Crystal Y. Chia, Kenneth Lay, Nur Ain Ali, Austin Larson, Fuad Al Mutairi, Nouriya Abbas Al-Sannaa, Eissa Ali Faqeih, Majid Alfadhel, Huma Arshad Cheema, Juliette Dupont, Stéphane Bézieau, Bertrand Isidor, Dorrain Yanwen Low, Yulan Wang, Grace Tan, Poh San Lai, Hugues Piloquet, Madeleine Joubert, Hulya Kayserili, Kimberly A. Kripps, Shareef A. Nahas, Eric P. Wartchow, Mikako Warren, Gandham SriLakshmi Bhavani, Majed Dasouki, Renata Sandoval, Elisa Carvalho, Luiza Ramos, Gilda Porta, Bin Wu, Harsha Prasada Lashkari, Badr AlSaleem, Raeda M. BaAbbad, Anabela Natália Abreu Ferrão, Vasiliki Karageorgou, Natalia Ordonez-Herrera, Suliman Khan, Peter Bauer, Benjamin Cogne, Aida M. Bertoli-Avella, Marie Vincent, Katta Mohan Girisha, Bruno Reversade

المساهمون: Center for Reproductive Medicine, ACS - Heart failure & arrhythmias, Amsterdam Reproduction & Development

المصدر: Nature genetics. Nature Publishing Group

مصطلحات موضوعية: Adult, Liver Cirrhosis, Liver, Tumor Suppressor Proteins, Hepatocytes, Genetics, Animals, Humans, RNA, Messenger, Syndrome, Child, Zebrafish

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::747ba8cc882c52da515268747f0c3985Test
https://doi.org/10.1038/s41588-022-01120-0Test

المؤلفون: Juliette Dupont

المصدر: Migrations Société. :29-42

مصطلحات موضوعية: General Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f3756cfa13e2261e1f2144b6859f9c92Test
https://doi.org/10.3917/migra.186.0029Test

المؤلفون: Alexandru Tatomir, Juliette Dupont Pochat Baron, Jacqueline Bouchet, Timour Vitte, Sébastien Marcel, Jérémie Papassin

المصدر: Revue Neurologique. 179:S3-S4

مصطلحات موضوعية: Neurology, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::008f5f2be234c0678f6d89327af9a958Test
https://doi.org/10.1016/j.neurol.2023.01.005Test