Resultats globals: 2 registres trobats en 0.02 segons.
Articles, 2 registres trobats
Articles 2 registres trobats  
1.
20 p, 2.2 MB Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes / Scala, Marcello (University of Genoa) ; Nishikawa, Masashi (Aichi Developmental Disability Center (Japó)) ; Ito, Hidenori (Aichi Developmental Disability Center (Japó)) ; Tabata, Hidenori (Aichi Developmental Disability Center (Japó)) ; Khan, Tayyaba (The Hospital for Sick Children (Canadà)) ; Accogli, Andrea (University of Genoa) ; Davids, Laura (Emory Healthcare (Estats Units d'Amèrica)) ; Ruiz, Anna (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Chiurazzi, Pietro (Università Cattolica Sacro Cuore) ; Cericola, Gabriella (Helios-Klinikum Hildesheim (Alemanya)) ; Schulte, Björn (Praxis für Humangenetik (Almenya)) ; Monaghan, Kristin G (GeneDx, Gaithersburg (Estats Units d'Amèrica)) ; Begtrup, Amber (GeneDx, Gaithersburg (Estats Units d'Amèrica)) ; Torella, Annalaura (University of Campania Luigi Vanvitelli) ; Pinelli, Michele (Telethon Institute of Genetics and Medicine (Itàlia)) ; Denommé-Pichon, Anne Sophie (Université de Bourgogne Franche-Comté) ; Vitobello, Antonio (Université de Bourgogne Franche-Comté) ; Racine, Caroline (CHU de Dijon Bourgogne) ; Mancardi, Maria Margherita (IRCCS Istituto Giannina Gaslini) ; Kiss, Courtney (Queen's University (Canadà)) ; Guerin, Andrea (Queen's University (Canadà)) ; Wu, Wendy (Queen's University (Canadà)) ; Gabau, Elisabeth (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Mak, Bryan C (University of California-Los Angeles) ; Martinez-Agosto, Julian A (University of California-Los Angeles) ; Gorin, Michael B (University of California-Los Angeles) ; Duz, Bugrahan (Haseki Training and Research Hospital (Turquia)) ; Bayram, Yavuz (University of Pennsylvania) ; Carvalho, Claudia M B (Baylor College of Medicine (Estats Units d'Amèrica)) ; Vengoechea, Jaime E (Emory Healthcare (Estats Units d'Amèrica)) ; Chitayat, David (University of Toronto) ; Tan, Tiong Yang (University of Melbourne) ; Callewaert, Bert (Universitair Ziekenhuis Gent) ; Kruse, Bernd (Helios-Klinikum Hildesheim) ; Bird, Lynne M (Rady Children's Hospital San Diego) ; Faivre, Laurence (Université de Bourgogne Franche-Comté) ; Zollino, Marcella (Sezione di Medicina Genomica, Università Cattolica Sacro Cuore) ; Biskup, Saskia (Praxis für Humangenetik (Alemanya)) ; Striano, Pasquale (University of Genoa) ; Nigro, Vincenzo (University of Campania Luigi Vanvitelli) ; Severino, Mariasavina (IRCCS Istituto Giannina Gaslini) ; Capra, Valeria (IRCCS Istituto Giannina Gaslini) ; Costain, Gregory (The Hospital for Sick Children (Canadà)) ; Nagata, Koh ichi (University of Campania Luigi Vanvitelli) ; Universitat Autònoma de Barcelona
Variants in RAC3, encoding a small GTPase RAC3 which is critical for the regulation of actin cytoskeleton and intracellular signal transduction, are associated with a rare neurodevelopmental disorder with structural brain anomalies and facial dysmorphism. [...]
2022 - 10.1093/brain/awac106
Brain, Vol. 145 (july 2022) , p. 3308-3327  
2.
5 p, 510.1 KB COVID-19 infection in first trimester of pregnancy marked by a liver cytolysis in a woman previously treated by hydroxychloroquine for repeated implantation failure : a case report / Lamazou, F. (Hôpital Privé de Parly 2) ; Oger, P. (Hôpital Privé de Parly 2) ; Dieli-Crimi, Romina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Guerin, A. (IVI) ; Letouzey, V. (University Hospital Caremeau. Department of Obstetrics and Gynecology) ; Octernaud, S. (Medical Radiology center Juras) ; Place, V. (Medical Radiology center Juras) ; Calès, P. (HIFIH laboratory (França)) ; Descamps, P. (Université Montpellier) ; Delaroche, L. (Centre de biologie médicale de l'Hôpital Privé de Parly 2) ; Universitat Autònoma de Barcelona
In December 2019, a new disease (COVID-19) caused by a novel coronavirus called SARS-CoV-2 emerged in China and spread to many other countries. There is only limited data about the clinical features of COVID-19 during pregnancy, especially in first trimester. [...]
2020 - 10.1186/s12879-020-05551-0
BMC Infectious diseases, Vol. 20 (november 2020)  

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