Accès ouvert déclaré 2021 article

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Joery den Hoed, Elke de Boer, Norine Voisin, Alexander J.M. Dingemans, Nicolas Guex, Laurens Wiel, Christoffer Nellåker, Shivarajan Amudhavalli, Siddharth Banka, Frédérique Béna, Bruria Ben‐Zeev, Vincent R. Bonagura, Ange‐Line Bruel, Theresa Brunet, Han G. Brunner, Hui Bein Chew, Jacqueline Chrast, Loreta Cimbalistienė, Hilary Coon, Emmanuèlle C. Délot, Florence Démurger, Anne‐Sophie Denommé‐Pichon, Christel Depienne, Dian Donnai, David A. Dyment, Orly Elpeleg, Laurence Faivre, Christian Gilissen, Leslie Granger, Benjamin Haber, Yasuo Hachiya, Yasmin Hamzavi Abedi, Jennifer Hanebeck, Jayne Y. Hehir‐Kwa, Brooke Horist, Toshiyuki Itai, Adam Jackson, Rosalyn Jewell, Kelly L. Jones, Shelagh Joss, Hirofumi Kashii, Mitsuhiro Kato, Anja A. Kattentidt‐Mouravieva, Fernando Kok, Urania Kotzaeridou, Vidya Krishnamurthy, Vaidutis Kučinskas, Alma Kuechler, Alinoë Lavillaureix, Pengfei Liu, Linda Manwaring, Naomichi Matsumoto, Benoît Mazel, Kirsty McWalter, Vardiella Meiner, Mohamad A. Mikati, Satoko Miyatake, Takeshi Mizuguchi, Lip Hen Moey, Shehla Mohammed, Hagar Mor‐Shaked, Hayley S. Mountford, Ruth Newbury‐Ecob, Sylvie Odent, Laura Orec, Matthew Osmond, Timothy Blake Palculict, Michael Parker, Andrea Petersen, Rolph Pfundt, Eglė Preikšaitienė, Kelly Radtke, Emmanuelle Ranza, Jill A. Rosenfeld, Teresa Santiago‐Sim, Caitlin Schwager, Margje Sinnema, Lot Snijders Blok, Rebecca C. Spillmann, Alexander P.A. Stegmann, Isabelle Thiffault, Linh Tran, Adi Vaknin‐Dembinsky, Juliana H. Vedovato-dos-Santos, Samantha A. Schrier Vergano, Éric Vilain, Antonio Vitobello, Matias Wagner, Androu Waheeb, Marcia Willing, Britton Zuccarelli, Usha Kini, Dianne F. Newbury, Tjitske Kleefstra, Alexandre Reymond, Simon E. Fisher, Lisenka E.L.M. Vissers

58Citations signalées, ce qui n’est pas une note de qualité

80Institutions déclarées

12Pays d’affiliation déclarés

Rattachement africain : nl, ch, gb, us, il, fr, de, my, lt, ca, jp, br. Niveau de preuve : code pays fourni par la source.

Résumé indisponible. Les résultats de l’étude ne doivent pas être déduits de son seul titre.

Le contrôle bibliographique ouvert

DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.

Titre Crossref: Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
Date Crossref: 01/02/2021
Éditeur: Elsevier BV
Type: journal-article

Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.

Les institutions déclarées

Max Planck Institute for Psycholinguistics Radboud University Nijmegen Radboud University Medical Center University of Lausanne Radboud Institute for Molecular Life Sciences John Radcliffe Hospital University of Oxford Oxford BioMedica (United Kingdom)Children's Mercy Hospital University of Missouri–Kansas City University of Manchester St Mary's Hospital Manchester University NHS Foundation Trust St Mary's Hospital St. Mary's Hospital University Hospital of Geneva Tel Aviv University Sheba Medical Center Edmond and Lily Safra Children's Hospital Feinstein Institute for Medical Research Donald & Barbara Zucker School of Medicine at Hofstra/Northwell Inserm Université de Bourgogne CHU Dijon Bourgogne Technical University of Munich Maastricht University Hospital Kuala Lumpur Vilnius University University of Utah Children's National George Washington University Centre hospitalier Bretagne Atlantique University of Duisburg-Essen Children's Hospital of Eastern Ontario Hadassah Medical Center Fédération Hospitalo-Universitaire, Paris Center for Microbiome Medicine Legacy Emanuel Medical Center Randall Children's Hospital at Legacy Emanuel Heidelberg University University Hospital Heidelberg Tokyo Metropolitan Neurological Hospital Northwell Health Princess Máxima Center Pediatrics and Genetics Yokohama City University Chapel Allerton Hospital Eastern Virginia Medical School Children's Hospital of The King's Daughters Queen Elizabeth University Hospital SHOWA Medical University Zuidwester Universidade de São Paulo Mendelics Genomic (Brazil)Centre National de la Recherche Scientifique Institut de génétique et de développement de Rennes Centre Hospitalier Universitaire de Rennes ERN ITHACA Université de Rennes Baylor College of Medicine Baylor Genetics Washington University in St. Louis Duke Medical Center Duke University Hospital Guy's Hospital Oxford Brookes University University Hospitals Bristol NHS Foundation Trust St Michael's Hospital St Michael’s Hospital St Michaels Hospital Sheffield Children's Hospital Ambry Genetics (United States)University of Geneva Maastricht University Medical Centre University Medical Center Hebrew University of Jerusalem Helmholtz Munich University of Kansas Kansas State University Salina Aerospace and Technology Campus Oxford University Hospitals NHS Trust

Une affiliation ne permet pas de déduire la nationalité d’un auteur.

Les sujets associés

Genomics and Rare DiseasesCancer-related gene regulationGenomics and Chromatin Dynamics

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