부산대학교 도서관

Campeau, Philippe M ; Kasperaviciute, Dalia ; Lu, James T ; Burrage, Lindsay C ; Kim, Choel ; Hori, Mutsuki ; Powell, Berkley R ; Stewart, Fiona ; Félix, Têmis Maria ; van den Ende, Jenneke ; Wisniewska, Marzena ; Kayserili, Hülya ; Rump, Patrick ; Nampoothiri, Sheela ; Aftimos, Salim ; Mey, Antje ; Nair, Lal D V ; Begleiter, Michael L ; De Bie, Isabelle ; Meenakshi, Girish ; Murray, Mitzi L ; Repetto, Gabriela M ; Golabi, Mahin ; Blair, Edward ; Male, Alison ; Giuliano, Fabienne ; Kariminejad, Ariana ; Newman, William G ; Bhaskar, Sanjeev S ; Dickerson, Jonathan E ; Kerr, Bronwyn ; Banka, Siddharth ; Giltay, Jacques C ; Wieczorek, Dagmar ; Tostevin, Anna ; Wiszniewska, Joanna ; Cheung, Sau Wai ; Hennekam, Raoul C ; Gibbs, Richard A ; Lee, Brendan H ; Sisodiya, Sanjay M

In Lancet Neurology January 2014 13(1):44-58

Kooblall, Kreepa G; Stevenson, Mark; Heilig, Raphael; Stewart, Michelle; Wright, Benjamin; Lockstone, Helen; Buck, David; Fischer, Roman; Wells, Sara; Lines, Kate E; Teboul, Lydia; Hennekam, Raoul C; Thakker, Rajesh V

JBMR Plus; Jul2024, Vol. 8 Issue 7, p1-12, 12p

Bouman A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Gaasterland CMW; Amsterdam UMC, University of Amsterdam, Emma Children's Hospital, Amsterdam, The Netherlands; European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA, Clinical Genetics Department, Robert Debré University Hospital, Paris, France.; Sloof-Enthoven C; ZeldSamen, patient organization for rare genetic neurodevelopmental disorders, The Netherlands.; Draksler TZ; International research centre on artificial intelligence under the auspices of UNESCO, Jožef Stefan Institute, Ljubljana, Slovenia; IDefine Europe Foundation, Ljubljana, Slovenia; ERN ITHACA patient board vice-chair.; Rots D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands; Genetics Laboratory, Children's Clinical University Hospital, Riga, Latvia.; Geelen JM; Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.; Morison LD; Speech and Language, Murdoch Children's Research Institute, Parkville, Victoria, Australia. Department of Audiology and Speech Pathology, The University of Melbourne, Melbourne, Victoria, Australia.; Morgan AT; Speech and Language, Murdoch Children's Research Institute, Parkville, Victoria, Australia. Department of Audiology and Speech Pathology, The University of Melbourne, Melbourne, Victoria, Australia.; Wicher D; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.; Rivero S; Departamento de Citología e Histología Normal y Patológica, Facultad de Medicina, Universidad de Sevilla, Sevilla, Spain. Centro Andaluz de Biología Molecular y Medicina Regenerativa-CABIMER, Universidad de Sevilla-CSIC-Junta de Andalucía-Universidad Pablo de Olavide, Sevilla, Spain.; Fernández-Ulibarri I; Asociación Kleefstra España, Madrid, Spain.; Drake J; IDefine Foundation, USA.; O'Donnell Luria A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Pickup L; Parent, England, UK.; Shalhoub C; Centre for Clinical Genetics, Sydney Childrens' Hospitals Network, Sydney, NSW, Australia; School of Clinical Medicine, UNSW Medicine and Health, Randwick Clinical Campus, Sydney, NSW, Australia.; Milani D; Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.; Hennekam RC; Department of Pediatrics, Amsterdam University Medical Center, Amsterdam, the Netherlands.; Tumiene B; Vilnius University, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius, Lithuania.; Dies KA; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Boston, MA 02115.; Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.; Bedeschi MF; Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.; Danieli A; Scientific Institute IRCCS E. Medea, Epilepsy and Clinical Neurophysiology Unit, Conegliano, Italy.; van Renssen LV; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Palmer EE; Centre for Clinical Genetics, Sydney Childrens' Hospitals Network, Sydney, NSW, Australia; Discipline of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.; Grosdemouge I; Association Kleefstra Syndrome, France.; Hadzsiev K; Department of Medical Genetics, Medical School, Clinical Center, University of Pécs, Hungary.; Ousager LB; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark; Department of Clinical Research, University of Southern Denmark, Odense, Denmark.; Frazier Z; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Boston, MA 02115.; Chopra M; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Boston, MA 02115.; Szakszon K; Institute of Paediatrics, University of Debrecen, Faculty of Medicine, Clinical Centre, Debrecen, Hungary.; Ewans L; Centre for Clinical Genetics, Sydney Childrens' Hospitals Network, Sydney, NSW, Australia; Discipline of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Darlinghurst, NSW.; Srivastava S; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Boston, MA 02115.; Balbo N; Department of Social and Political Sciences and Dondena Centre for Research on Social Dynamics and Public Policy, Bocconi University, Milan, Italy.; Caterino E; Child and Adolescence Neuropsychiatrist, USL Sudest Toscana, Grosseto UFSMIA Autism Center, Castel del Piano Hospital, 58033, Grosseto, Italy.; Schenck A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Smith R; Department of Critical Care Medicine. Sunnybrook Health Sciences Centre. Toronto, Ontario, Canada.; Boonstra FN; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands; Royal Dutch Visio, National Foundation for the Visually Impaired and Blind, Huizen, Netherlands.; van Till SAL; Department of Medical Ethics, Philosophy and History of Medicine, Erasmus MC, Rotterdam, The Netherlands.; Vasireddi SK; Department of Medicine, Division of Cardiovascular Medicine, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.; Brian Chung HY; Department of Paediatrics & Adolescent Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.; Klein Haneveld MJ; Amsterdam UMC, University of Amsterdam, Emma Children's Hospital, Amsterdam, The Netherlands; European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA, Clinical Genetics Department, Robert Debré University Hospital, Paris, France; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands; Amsterdam Public Health Research Institute, Amsterdam, The Netherlands.; Vyshka K; European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA, Clinical Genetics Department, Robert Debré University Hospital, Paris, France; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands; Amsterdam Public Health Research Institute, Amsterdam, The Netherlands.; Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands. Electronic address: t.kleefstra@erasmusmc.nl.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Kranendonk, Elcke; Hennekam, Raoul; Ploem, M.; Kranendonk, Elcke J; Hennekam, Raoul C; Ploem, M Corrette

European Journal of Pediatrics. Jan2017, Vol. 176 Issue 1, p75-82. 8p.

Paul, Franziska; Ng, Calista; Sahari, Umar Bin Mohamad; Nafissi, Shahriar; Nilipoor, Yalda; Tavasoli, Ali Reza; Bonnard, Carine; Wong, Pui-Mun; Nabavizadeh, Nasrinsadat; Altunoğlu, Umut; Estiar, Mehrdad A; Majoie, Charles B; Lee, Hane; Nelson, Stanley F; Gan-Or, Ziv; Rouleau, Guy A; Veldhoven, Paul P Van; Massie, Rami; Hennekam, Raoul C; Kariminejad, Ariana

Human Molecular Genetics; Nov2022, Vol. 31 Issue 21, p3729-3740, 12p

Doyle, Alexander J; Doyle, Jefferson J; Bessling, Seneca L; Maragh, Samantha; Lindsay, Mark E; Schepers, Dorien; Gillis, Elisabeth; Mortier, Geert; Homfray, Tessa; Sauls, Kimberly; Norris, Russell A; Huso, Nicholas D; Leahy, Dan; Mohr, David W; Caulfield, Mark J; Scott, Alan F; Destrée, Anne; Hennekam, Raoul C; Arn, Pamela H; Curry, Cynthia J

Nature Genetics. Nov2012, Vol. 44 Issue 11, p1249-1254. 6p. 2 Color Photographs, 1 Chart, 1 Graph.

de Munnik, Sonja A; Bicknell, Louise S; Aftimos, Salim; Al-Aama, Jumana Y; van Bever, Yolande; Bober, Michael B; Clayton-Smith, Jill; Edrees, Alaa Y; Feingold, Murray; Fryer, Alan; van Hagen, Johanna M; Hennekam, Raoul C; Jansweijer, Maaike C E; Johnson, Diana; Kant, Sarina G; Opitz, John M; Ramadevi, A Radha; Reardon, Willie; Ross, Alison; Sarda, Pierre

European Journal of Human Genetics. Jun2012, Vol. 20 Issue 6, p598-606. 9p. 1 Black and White Photograph, 2 Charts, 1 Graph.

Kooblall KG; Academic Endocrine Unit, Radcliffe Department of Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM) University of Oxford Oxford UK.; Stevenson M; Academic Endocrine Unit, Radcliffe Department of Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM) University of Oxford Oxford UK.; Stewart M; MRC Harwell, Mary Lyon Centre Harwell Science and Innovation Campus Oxfordshire UK.; Harris L; The Francis Crick Institute London UK.; Zalucki O; The School of Biomedical Sciences and The Queensland Brain Institute The University of Queensland Brisbane Australia.; Dewhurst H; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London Hammersmith Hospital London UK.; Butterfield N; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London Hammersmith Hospital London UK.; Leng H; Centre for OA Pathogenesis Versus Arthritis, The Kennedy Institute of Rheumatology, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences (NDORMS) Medical Sciences Division University of Oxford Oxford UK.; Hough TA; MRC Harwell, Mary Lyon Centre Harwell Science and Innovation Campus Oxfordshire UK.; Ma D; Department of Internal Medicine Wake Forest University School of Medicine Winston-Salem NC USA.; Siow B; The Francis Crick Institute London UK.; Potter P; MRC Harwell, Mary Lyon Centre Harwell Science and Innovation Campus Oxfordshire UK.; Cox RD; MRC Harwell, Mary Lyon Centre Harwell Science and Innovation Campus Oxfordshire UK.; Brown SDM; MRC Harwell, Mary Lyon Centre Harwell Science and Innovation Campus Oxfordshire UK.; Horwood N; Centre for OA Pathogenesis Versus Arthritis, The Kennedy Institute of Rheumatology, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences (NDORMS) Medical Sciences Division University of Oxford Oxford UK.; Wright B; Oxford Genomics Centre, The Wellcome Centre for Human Genetics University of Oxford Oxford UK.; Lockstone H; Oxford Genomics Centre, The Wellcome Centre for Human Genetics University of Oxford Oxford UK.; Buck D; Oxford Genomics Centre, The Wellcome Centre for Human Genetics University of Oxford Oxford UK.; Vincent TL; Centre for OA Pathogenesis Versus Arthritis, The Kennedy Institute of Rheumatology, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences (NDORMS) Medical Sciences Division University of Oxford Oxford UK.; Hannan FM; Academic Endocrine Unit, Radcliffe Department of Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM) University of Oxford Oxford UK.; Nuffield Department of Women's and Reproductive Health University of Oxford Oxford UK.; Bassett JHD; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London Hammersmith Hospital London UK.; Williams GR; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London Hammersmith Hospital London UK.; Lines KE; Academic Endocrine Unit, Radcliffe Department of Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM) University of Oxford Oxford UK.; Piper M; The School of Biomedical Sciences and The Queensland Brain Institute The University of Queensland Brisbane Australia.; Wells S; MRC Harwell, Mary Lyon Centre Harwell Science and Innovation Campus Oxfordshire UK.; Teboul L; MRC Harwell, Mary Lyon Centre Harwell Science and Innovation Campus Oxfordshire UK.; Hennekam RC; Department of Pediatrics, Amsterdam UMC University of Amsterdam Amsterdam The Netherlands.; Thakker RV; Academic Endocrine Unit, Radcliffe Department of Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM) University of Oxford Oxford UK.

Publisher: Oxford University Press Country of Publication: England NLM ID: 101707013 Publication Model: eCollection Cited Medium: Internet ISSN: 2473-4039 (Electronic) Linking ISSN: 24734039 NLM ISO Abbreviation: JBMR Plus Subsets: PubMed not MEDLINE

Hu Y; Endocrine Laboratory, Department of Laboratory Medicine, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Lauffer P; Department of Pediatric Endocrinology, Emma Children's Hospital, University of Amsterdam, Amsterdam, the Netherlands; Research Institute Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Jongejan A; Department of Epidemiology and Data Science, Bioinformatics Laboratory, Amsterdam UMC Location AMC, University of Amsterdam, Amsterdam, the Netherlands; Research Institute Amsterdam Public Health, Methodology, Amsterdam, the Netherlands.; Falize K; Endocrine Laboratory, Department of Laboratory Medicine, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Bruinstroop E; Research Institute Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; van Trotsenburg P; Department of Pediatric Endocrinology, Emma Children's Hospital, University of Amsterdam, Amsterdam, the Netherlands; Research Institute Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Fliers E; Research Institute Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Hennekam RC; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Boelen A; Endocrine Laboratory, Department of Laboratory Medicine, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Research Institute Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands. Electronic address: a.boelen@amsterdamumc.nl.

Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0038 (Electronic) Linking ISSN: 03781119 NLM ISO Abbreviation: Gene Subsets: MEDLINE

Zwaveling-Soonawala, Nitash; Alders, Marielle; Jongejan, Aldo; Kovačič, Lidija; Duijkers, Floor A; Maas, Saskia M; Fliers, Eric; van Trotsenburg, A S Paul; Hennekam, Raoul C

The Journal of Clinical Endocrinology & Metabolism. Feb 01, 2018 103(2):415-428

Mulder, Paul A; Huisman, Sylvia A; Hennekam, Raoul C; Oliver, Chris; Balkom, Ingrid D C; Piening, Sigrid

Developmental Medicine & Child Neurology. Apr2017, Vol. 59 Issue 4, p361-366. 6p.

Paolacci, Stefano; Li, Yun; Agolini, Emanuele; Bellacchio, Emanuele; Arboleda-Bustos, Carlos E; Carrero, Dido; Bertola, Debora; Al-Gazali, Lihadh; Alders, Mariel; Altmüller, Janine; Arboleda, Gonzalo; Beleggia, Filippo; Bruselles, Alessandro; Ciolfi, Andrea; Gillessen-Kaesbach, Gabriele; Krieg, Thomas; Mohammed, Shehla; Müller, Christian; Novelli, Antonio; Ortega, Jenny; Sandoval, Adrian; Velasco, Gloria; Yigit, Gökhan; Arboleda, Humberto; Lopez-Otin, Carlos; Wollnik, Bernd; Tartaglia, Marco; Hennekam, Raoul C

Journal of Medical Genetics. 55:837-846

Castori, Marco; Ott, Claus-Eric; Bisceglia, Luigi; Leone, Maria Pia; Mazza, Tommaso; Castellana, Stefano; Tomassi, Jurgen; Lanciotti, Silvia; Mundlos, Stefan; Hennekam, Raoul C.; Kornak, Uwe; Brancati, Francesco

American Journal of Medical Genetics Part A

Heinen, Charlotte A; Jongejan, Aldo; Watson, Peter J; Redeker, Bert; Boelen, Anita; Boudzovitch-Surovtseva, Olga; Forzano, Francesca; Hordijk, Roel; Kelley, Richard; Olney, Ann H; Pierpont, Mary Ella; Schaefer, G Bradley; Stewart, Fiona; van Trotsenburg, A S Paul; Fliers, Eric; Schwabe, John W R; Hennekam, Raoul C

Journal of Medical Genetics. May 01, 2016 53(5):330-337

Lacombe D; Department of Medical Genetics, University Hospital of Bordeaux, and INSERM U1211, University of Bordeaux, 33076 Bordeaux, France didier.lacombe@chu-bordeaux.fr.; Bloch-Zupan A; Faculté de Chirurgie Dentaire, Université de Strasbourg, and Centre de référence des maladies rares orales et dentaires, Hôpitaux Universitaires de Strasbourg, Strasbourg, and Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, Illkirch, France.; Bredrup C; Department of Clinical Medicine, University of Bergen, 5020 Bergen, Norway.; Cooper EB; Department of Anesthesiology, Cincinnati Children's Hospital, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Houge SD; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway and Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; García-Miñaúr S; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, Madrid, Spain.; Kayserili H; Department of Medical Genetics, Koc University School of Medicine (KUSOM), 34010 Istanbul, Turkey.; Larizza L; Laboratorio di Ricerca in Citogenetica medica e Genetica Molecolare, Centro di Ricerche e Tecnologie Biomediche IRCCS-Istituto Auxologico Italiano, Milano, Italy.; Lopez Gonzalez V; Department of Pediatrics, Medical Genetics Section, Virgen de la Arrixaca University Hospital, IMIB, CIBERER, Murcia, Spain.; Menke LA; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Milani D; Fondazione IRCCS, Ca'Granda Ospedale Maggiore, 20122 Milan, Italy.; Saettini F; Fondazione Matilde Tettamanti Menotti De Marchi Onlus, Fondazione Monza e Brianza per il Bambino e la sua Mamma, Monza, Italy.; Stevens CA; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee, USA.; Tooke L; Department of Pediatrics, Groote Schuur Hospital, University of Cape Town, Cape Town, South Africa.; Van der Zee JA; Department of Pediatric Urology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Van Genderen MM; Bartiméus Diagnostic Center for complex visual disorders, Zeist and Department of Ophthalmology, University Medical Center Utrecht, Utrecht, Netherlands.; Van-Gils J; Department of Medical Genetics, University Hospital of Bordeaux, and INSERM U1211, University of Bordeaux, 33076 Bordeaux, France.; Waite J; School of Psychology, College of Health and Life Sciences, Aston University, Birmingham, UK.; Adrien JL; Université de Paris, Laboratoire de Psychopathologie et Processus de Santé, Boulogne Billancourt, France.; Bartsch O; MVZ - Humangenetik, University Medical Center, Johannes Gutenberg University Mainz, 55131 Mainz, Germany.; Bitoun P; Département de Genetique, SIDVA 91, Juvisy-sur-Orge, France.; Bouts AHM; Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Cueto-González AM; Department of Clinical and Molecular Genetics, University Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Dominguez-Garrido E; Molecular Diagnostics Laboratory, Fundacion Rioja Salud, La Rioja, Spain.; Duijkers FA; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Fergelot P; Department of Medical Genetics, University Hospital of Bordeaux, and INSERM U1211, University of Bordeaux, 33076 Bordeaux, France.; Halstead E; Psychology and Human Development Department, University College London, London, UK.; Huisman SA; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Zodiak, Prinsenstichting, Purmerend, Netherlands.; Meossi C; Fondazione IRCCS, Ca'Granda Ospedale Maggiore, 20122 Milan, Italy.; Mullins J; Rubinstein-Taybi Syndrome Support Group, Registered Charity, Rickmansworth, UK.; Nikkel SM; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; Oliver C; School of Psychology, University of Birmingham, Edgbaston, UK.; Prada E; Fondazione IRCCS, Ca'Granda Ospedale Maggiore, 20122 Milan, Italy.; Rei A; Associazione Rubinstein-Taybi Syndrome-Una Vita Speciale, Organizzazione di Volontariato (ODV), Gornate Olona, Varese, Italy.; Riddle I; Division of Developmental and Behavioral Pediatrics, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA.; Rodriguez-Fonseca C; Asociación Española para el Sindrome de Rubinstein-Taybi (AESRT), Madrid, Spain.; Rodríguez Pena R; Immunology, Hospital Universitario La Paz, IdiPaz, Madrid, Spain.; Russell J; Associazione Rubinstein-Taybi Syndrome-Una Vita Speciale, Organizzazione di Volontariato (ODV), Gornate Olona, Varese, Italy.; Saba A; French RTS Support Group, Paris, France.; Santos-Simarro F; Unit of Molecular Diagnostics and Clinical Genetics, Hospital Universitari Son Espases, Health Research Institute of the Balearic Islands (IdISBa), Palma, Spain.; Simpson BN; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics, Cincinnati School of Medicine, Cincinnati, Ohio, USA.; Smith DF; Department of Pediatric Otolaryngology, Cincinnati Children's Hospital Medical Center, and Department of Otolaryngology - Head and Neck Surgery, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Stevens MF; Department of Anesthesiology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Szakszon K; Institution of Pediatrics, University of Debrecen Clinical Centre, Debrecen, Hungary.; Taupiac E; Department of Medical Genetics, University Hospital of Bordeaux, and INSERM U1211, University of Bordeaux, 33076 Bordeaux, France.; Totaro N; Associazione Rubinstein-Taybi Syndrome-Una Vita Speciale, Organizzazione di Volontariato (ODV), Gornate Olona, Varese, Italy.; Valenzuena Palafoll I; Department of Clinical and Molecular Genetics, University Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Van Der Kaay DCM; Division of Paediatric Endocrinology, Department of Paediatrics, Erasmus University Medical Centre, Sophia Children's Hospital, Rotterdam, The Netherlands.; Van Wijk MP; Department of Pediatric Gastroenterology, Emma Children's Hospital, Amsterdam UMC, University Amsterdam, Amsterdam, Netherlands.; Vyshka K; European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA), Robert Debré University Hospital, Paris, France.; Wiley S; Division of Developmental and Behavioral Pediatrics, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA.; Hennekam RC; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.

Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Postema FAM; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Hopman SMJ; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; de Borgie CAJM; Clinical Research Unit, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Aalfs CM; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Anninga JK; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Berger LPV; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Bleeker FE; Department of Clinical Genetics, Netherlands Cancer Institute, Amsterdam, The Netherlands.; Dommering CJ; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; van Eijkelenburg NKA; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Hammond P; Nuffield Department of Obstetrics and Gynecology, University of Oxford, Oxford, UK.; van den Heuvel-Eibrink MM; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Hol JA; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Kors WA; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Letteboer TGW; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Loeffen JLCM; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Meijer L; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Olderode-Berends MJW; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Wagner A; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; Hennekam RC; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Merks JHM; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands. j.h.m.merks@prinsesmaximacentrum.nl.; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands. j.h.m.merks@prinsesmaximacentrum.nl.

Publisher: Springer Country of Publication: Netherlands NLM ID: 100898211 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-7292 (Electronic) Linking ISSN: 13899600 NLM ISO Abbreviation: Fam Cancer Subsets: MEDLINE

Bellini, Carlo; Donarini, Gloria; Paladini, Dario; Calevo, Maria Grazia; Bellini, Tommaso; Ramenghi, Luca A; Hennekam, Raoul C

American Journal Of Medical Genetics - A. May 01, 2015 167(5):1082-1088

Brioude, Frédéric; Kalish, Jennifer M; Mussa, Alessandro; Foster, Alison C; Bliek, Jet; Ferrero, Giovanni Battista; Boonen, Susanne E; Cole, Trevor; Baker, Robert; Bertoletti, Monica; Cocchi, Guido; Coze, Carole; De Pellegrin, Maurizio; Hussain, Khalid; Ibrahim, Abdulla; Kilby, Mark D; Krajewska-Walasek, Malgorzata; Kratz, Christian P; Ladusans, Edmund J; Lapunzina, Pablo; Le Bouc, Yves; Maas, Saskia M; Macdonald, Fiona; Õunap, Katrin; Peruzzi, Licia; Rossignol, Sylvie; Russo, Silvia; Shipster, Caroleen; Skórka, Agata; Tatton-Brown, Katrina; Tenorio, Jair; Tortora, Chiara; Grønskov, Karen; Netchine, Irène; Hennekam, Raoul C; Prawitt, Dirk; Tümer, Zeynep; Eggermann, Thomas; Mackay, Deborah J G; Riccio, Andrea; Maher, Eamonn R

Brioude, F, Kalish, J M, Mussa, A, Foster, A C, Bliek, J, Ferrero, G B, Boonen, S E, Cole, T, Baker, R, Bertoletti, M, Cocchi, G, Coze, C, De Pellegrin, M, Hussain, K, Ibrahim, A, Kilby, M D, Krajewska-Walasek, M, Kratz, C P, Ladusans, E J, Lapunzina, P, Le Bouc, Y, Maas, S M, Macdonald, F, Õunap, K, Peruzzi, L, Rossignol, S, Russo, S, Shipster, C, Skórka, A, Tatton-Brown, K, Tenorio, J, Tortora, C, Grønskov, K, Netchine, I, Hennekam, R C, Prawitt, D, Tümer, Z, Eggermann, T, Mackay, D J G, Riccio, A & Maher, E R 2018, ' Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome : an international consensus statement ', Nature Reviews Endocrinology, vol. 14, pp. 229-249 . https://doi.org/10.1038/nrendo.2017.166

Hu Y; Endocrine Laboratory, Department of Laboratory Medicine, University of Amsterdam, Amsterdam, The Netherlands.; Amsterdam Gastroenterology, Endocrinology & Metabolism Research Institute, Amsterdam, The Netherlands.; Codner GF; The Mary Lyon Centre at MRC Harwell, Harwell Campus, Oxfordshire, UK.; Stewart M; The Mary Lyon Centre at MRC Harwell, Harwell Campus, Oxfordshire, UK.; La Fleur SE; Endocrine Laboratory, Department of Laboratory Medicine, University of Amsterdam, Amsterdam, The Netherlands.; Amsterdam Gastroenterology, Endocrinology & Metabolism Research Institute, Amsterdam, The Netherlands.; Amsterdam Neuroscience, Cellular and Molecular Mechanisms, Amsterdam, The Netherlands.; van Trotsenburg PAS; Amsterdam Gastroenterology, Endocrinology & Metabolism Research Institute, Amsterdam, The Netherlands.; Department of Pediatric Endocrinology, Emma Children's Hospital, Amsterdam, The Netherlands.; Fliers E; Amsterdam Gastroenterology, Endocrinology & Metabolism Research Institute, Amsterdam, The Netherlands.; Department of Endocrinology, University of Amsterdam, Amsterdam, The Netherlands.; Hennekam RC; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Boelen A; Endocrine Laboratory, Department of Laboratory Medicine, University of Amsterdam, Amsterdam, The Netherlands.; Amsterdam Gastroenterology, Endocrinology & Metabolism Research Institute, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands.

Publisher: BioScientifica Country of Publication: England NLM ID: 8902617 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 1479-6813 (Electronic) Linking ISSN: 09525041 NLM ISO Abbreviation: J Mol Endocrinol Subsets: MEDLINE

Bakhuizen JJ; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; Postema FAM; Department of Pediatrics, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.; van Rijn RR; Department of Radiology and Nuclear Medicine, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.; van Schuppen J; Department of Radiology and Nuclear Medicine, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.; Duijkers FAM; Department of Clinical Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.; van Noesel CJM; Department of Pathology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.; Hennekam RC; Department of Pediatrics, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.; Jongmans MCJ; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; Savci-Heijink CD; Department of Pathology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.; Smetsers SE; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Terheggen-Lagro SWJ; Department of Pediatric Pulmonology and Allergy, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.; Hopman SMJ; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; Oomen MWN; Department of Pediatric Surgery, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.; Merks JHM; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands; Division of Imaging and Oncology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands. Electronic address: J.H.M.Merks@prinsesmaximacentrum.nl.

Publisher: Saunders Country of Publication: United States NLM ID: 0052631 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-5037 (Electronic) Linking ISSN: 00223468 NLM ISO Abbreviation: J Pediatr Surg Subsets: MEDLINE