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ANKRD11 variants: KBG syndrome and beyond.
Parenti, Ilaria; Mallozzi, Mark B; Hüning, Irina; Gervasini, Cristina; Kuechler, Alma; Agolini, Emanuele; Albrecht, Beate; Baquero-Montoya, Carolina; Bohring, Axel; Bramswig, Nuria C; Busche, Andreas; Dalski, Andreas; Guo, Yiran; Hanker, Britta; Hellenbroich, Yorck; Horn, Denise; Innes, A Micheil; Leoni, Chiara; Li, Yun R; Lynch, Sally Ann; Mariani, Milena; Medne, Livija; Mikat, Barbara; Milani, Donatella; Onesimo, Roberta; Ortiz-Gonzalez, Xilma; Prott, Eva Christina; Reutter, Heiko; Rossier, Eva; Selicorni, Angelo; Wieacker, Peter; Wilkens, Alisha; Wieczorek, Dagmar; Zackai, Elaine H; Zampino, Giuseppe; Zirn, Birgit; Hakonarson, Hakon; Deardorff, Matthew A; Gillessen-Kaesbach, Gabriele; Kaiser, Frank J.
Affiliation
  • Parenti I; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
  • Mallozzi MB; Department of Internal Medicine, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania, USA.
  • Hüning I; Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany.
  • Gervasini C; Genetica Medica, Dipartimento di Scienze della Salute, Università degli Studi di Milano, Milan, Italy.
  • Kuechler A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
  • Agolini E; Laboratory of Medical Genetics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Albrecht B; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
  • Baquero-Montoya C; Department of Pediatrics, Hospital Pablo Tobón Uribe, Medellín, Colombia.
  • Bohring A; Genetics Unit, Sura Ayudas Diagnosticas, Medellín, Colombia.
  • Bramswig NC; Institut für Humangenetik, Westfälische Wilhelms-Universität, Münster, Germany.
  • Busche A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
  • Dalski A; Institut für Humangenetik, Westfälische Wilhelms-Universität, Münster, Germany.
  • Guo Y; Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany.
  • Hanker B; Center for Applied Genomics and Center for Data Driven Discovery in Biomedicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Hellenbroich Y; Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany.
  • Horn D; Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany.
  • Innes AM; Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.
  • Leoni C; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.
  • Li YR; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
  • Lynch SA; Center for Applied Genomics and Center for Data Driven Discovery in Biomedicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Mariani M; Medical Scientist Training Program, University of Pennsylvania, Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
  • Medne L; Department of Clinical Genetics, Children's Health Ireland (CHI) at Crumlin, Dublin, Ireland.
  • Mikat B; Centro Fondazione Mariani per il Bambino Fragile ASST-Lariana Sant'Anna Hospital, Department of Pediatrics, San Fermo della Battaglia (Como), Italy.
  • Milani D; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Onesimo R; Department of Pediatrics, Children's Hospital of Philadelphia and Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Ortiz-Gonzalez X; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
  • Prott EC; Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico Milano, Milan, Italy.
  • Reutter H; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
  • Rossier E; Department of Pediatrics, Division of Neurology, Epilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Selicorni A; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Wieacker P; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
  • Wilkens A; Institut für Praenatale Medizin & Humangenetik, Wuppertal, Germany.
  • Wieczorek D; Institute of Human Genetics, University Hospital of Bonn, Bonn, Germany.
  • Zackai EH; Department of Neonatology and Pediatric Intensive Care, University Hospital of Bonn, Bonn, Germany.
  • Zampino G; Institut für Medizinische Genetik und Angewandte Genomik, Universität Tübingen, Tübingen, Germany.
  • Zirn B; Genetikum Stuttgart, Genetic Counselling and Diagnostics, Stuttgart, Germany.
  • Hakonarson H; Centro Fondazione Mariani per il Bambino Fragile ASST-Lariana Sant'Anna Hospital, Department of Pediatrics, San Fermo della Battaglia (Como), Italy.
  • Deardorff MA; Institut für Humangenetik, Westfälische Wilhelms-Universität, Münster, Germany.
  • Gillessen-Kaesbach G; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Kaiser FJ; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany.
Clin Genet ; 100(2): 187-200, 2021 08.
Article in En | MEDLINE | ID: mdl-33955014
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Repressor Proteins / Tooth Abnormalities / Abnormalities, Multiple / Bone Diseases, Developmental / Intellectual Disability Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Language: En Journal: Clin Genet Year: 2021 Document type: Article Affiliation country:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Repressor Proteins / Tooth Abnormalities / Abnormalities, Multiple / Bone Diseases, Developmental / Intellectual Disability Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Language: En Journal: Clin Genet Year: 2021 Document type: Article Affiliation country: