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GestaltMatcher Database - A global reference for the facial phenotypic variability of rare human diseases.
Lesmann, Hellen; Hustinx, Alexander; Moosa, Shahida; Marchi, Elaine; Caro, Pilar; Abdelrazek, Ibrahim M; Pantel, Jean Tori; Klinkhammer, Hannah; Hagen, Merle Ten; Kamphans, Tom; Meiswinkel, Wolfgang; Li, Jing-Mei; Javanmardi, Behnam; Knaus, Alexej; Uwineza, Annette; Knopp, Cordula; Tkemaladze, Tinatin; Elbracht, Miriam; Mattern, Larissa; Jamra, Rami Abou; Velmans, Clara; Strehlow, Vincent; Goel, Himanshu; Nunes, Beatriz Carvalho; Vilella, Thainá; Pinheiro, Isabel Furquim; Kim, Chong Ae; Melaragno, Maria Isabel; Barakat, Tahsin Stefan; Nabil, Amira; Suh, Julia; Averdunk, Luisa; Ekure, Ekanem; Graziano, Claudio; Phowthongkum, Prasit; Güzel, Nergis; Haack, Tobias B; Brunet, Theresa; Rudnik-Schöneborn, Sabine; Platzer, Konrad; Borovikov, Artem; Schnabel, Franziska; Heuft, Lara; Herrmann, Vera; Martinez-Monseny, Antonio F; Höller, Matthias; Alaaeldin, Khoshoua; Jezela-Stanek, Aleksandra; Mohamed, Amal; Lasa-Aranzasti, Amaia.
Affiliation
  • Lesmann H; Institute of Human Genetics, University of Bonn, Bonn, Germany.
  • Hustinx A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.
  • Moosa S; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.
  • Marchi E; Division of Molecular Biology and Human Genetics, Stellenbosch University and Medical Genetics, Tygerberg Hospital, Stellenbosch, South Africa.
  • Caro P; New York State Institute for Basic Research in Developmental Disabilities, New York State, Albany, USA.
  • Abdelrazek IM; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
  • Pantel JT; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.
  • Klinkhammer H; Institute for Digitalization and General Medicine, University Hospital RWTH Aachen, Aachen, Germany.
  • Hagen MT; Centre for Rare Diseases Aachen (ZSEA), University Hospital RWTH Aachen, Aachen, Germany.
  • Kamphans T; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.
  • Meiswinkel W; Institute for Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany.
  • Li JM; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.
  • Javanmardi B; GeneTalk GmbH, Bonn, Germany.
  • Knaus A; GeneTalk GmbH, Bonn, Germany.
  • Uwineza A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.
  • Knopp C; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.
  • Tkemaladze T; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.
  • Elbracht M; College of Medicine and Health Sciences, University of Rwanda, and University Teaching Hospital of Kigali, Kigali, Rwanda.
  • Mattern L; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  • Jamra RA; Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia.
  • Velmans C; Givi Zhvania Pediatric Academic Clinic, Tbilisi State Medical University, Georgia.
  • Strehlow V; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  • Goel H; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  • Nunes BC; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Vilella T; Institute of Human Genetics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Pinheiro IF; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Kim CA; School of Medicine and Public Health, University of Newcastle, Callaghan NSW, Australia.
  • Melaragno MI; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.
  • Barakat TS; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.
  • Nabil A; Genetics Unit, Instituto da Criança, Universidade de São Paulo, São Paulo, Brazil.
  • Suh J; Genetics Unit, Instituto da Criança, Universidade de São Paulo, São Paulo, Brazil.
  • Averdunk L; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.
  • Ekure E; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Graziano C; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.
  • Phowthongkum P; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  • Güzel N; Department of Pediatrics, Universtiy Hospital Düsseldorf, Düsseldorf, Germany.
  • Haack TB; Department of Paediatrics, College of Medicine, University of Lagos, Lagos, Nigeria.
  • Brunet T; Medical Genetics Unit, Ausl Romagna, Cesena, Italy.
  • Rudnik-Schöneborn S; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.
  • Platzer K; Division of Medical Genetics and Genomics, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
  • Borovikov A; Institut für Humangenetik und Genommedizin, Uniklinik RWTH Aachen, Aachen, Germany.
  • Schnabel F; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Heuft L; Institut für Humangenetik, Klinikum rechts der Isar, Technische Universität München, München, Germany.
  • Herrmann V; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
  • Martinez-Monseny AF; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Höller M; Research Centre for Medical Genetics (RCMG), Moscow, Russia.
  • Alaaeldin K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Jezela-Stanek A; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Mohamed A; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Lasa-Aranzasti A; Department of Clinical Genetics, SJD Barcelona Children's Hospital, Esplugues del Llobregat (Barcelona), Spain.
medRxiv ; 2024 Mar 08.
Article de En | MEDLINE | ID: mdl-37503210
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Langue: En Journal: MedRxiv Année: 2024 Type de document: Article Pays d'affiliation: Allemagne
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Langue: En Journal: MedRxiv Année: 2024 Type de document: Article Pays d'affiliation: Allemagne