부산대학교 도서관

Miceikaitė I; University of Southern Denmark, Odense, Denmark ieva.miceikaite@gmail.com.; Hao Q; Odense University Hospital, Odense, Denmark.; Brasch-Andersen C; Odense University Hospital, Odense, Denmark.; Fagerberg CR; Odense University Hospital, Odense, Denmark.; Torring PM; Odense University Hospital, Odense, Denmark.; Kristiansen BS; Odense University Hospital, Odense, Denmark.; Ousager LB; University of Southern Denmark, Odense, Denmark.; Sperling L; Odense University Hospital, Odense, Denmark.; Ibsen MH; University Hospital of Southwestern Jutland, Esbjerg, Denmark.; Löser K; Hospital of Southern Jutland, Aabenraa, Denmark.; Larsen MJ; University of Southern Denmark, Odense, Denmark.

Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print Cited Medium: Internet ISSN: 1533-4406 (Electronic) Linking ISSN: 00284793 NLM ISO Abbreviation: N Engl J Med Subsets: MEDLINE

Loviglio, M N; Leleu, M; Männik, K; Passeggeri, M; Giannuzzi, G; van der Werf, I; Waszak, S M; Zazhytska, M; Roberts-Caldeira, I; Gheldof, N; Migliavacca, E; Alfaiz, A A; Hippolyte, L; Maillard, A M; Loviglio, Maria Nicla; Männik, Katrin; van der Werf, Ilse; Giannuzzi, Giuliana; Zazhytska, Marianna; Gheldof, Nele; Migliavacca, Eugenia; Alfaiz, Ali A; Roberts-Caldeira, Inês; Hippolyte, Loyse; Maillard, Anne M; Ferrarini, Alessandra; Butschi, Florence Niel; Conrad, Bernard; Addor, Marie-Claude; Belfiore, Marco; Roetzer, Katharina; Dijck, Anke Van; Blaumeiser, Bettina; Kooy, Frank; Roelens, Filip; Dheedene, Annelies; Chiaie, Barbara Delle; Menten, Björn; Oostra, Ann; Caberg, Jean-Hubert; Carter, Melissa; Kellam, Barbara; Stavropoulos, Dimitri J; Marshall, Christian; Scherer, Stephen W; Weksberg, Rosanna; Cytrynbaum, Cheryl; Bassett, Anne; Lowther, Chelsea; Gillis, Jane; MacKay, Sara; Bache, Iben; Ousager, Lilian B; Smerdel, Maja Patricia; Graakjaer, Jesper; Kjaergaard, Susanne; Metspalu, Andres; Mathieu, Michele; Bonneau, Dominique; Guichet, Agnes; Parent, Philippe; Férec, Claude; Gerard, Marion; Plessis, Ghislaine; Lespinasse, James; Masurel, Alice; Marle, Nathalie; Faivre, Laurence; Callier, Patrick; Layet, Valerie; Meur, Nathalie Le; Le Goff, Céline; Duban-Bedu, Bénédicte; Sukno, Sylvie; Boute, Odile; Andrieux, Joris; Blanchet, Patricia; Geneviève, David; Puechberty, Jacques; Schneider, Anouck; Leheup, Bruno; Jonveaux, Philippe; Mercier, Sandra; David, Albert; Le Caignec, Cédric; de Pontual, Loic; Pipiras, Eva; Jacquette, Aurelia; Keren, Boris; Gilbert-Dussardier, Brigitte; Bilan, Frederic; Goldenberg, Alice; Chambon, Pascal; Toutain, Annick; Till, Marianne; Sanlaville, Damien; Leube, Barbara; Royer-Pokora, Brigitte; Grabe, Hans Jörgen; Schmidt, Carsten Oliver; Schurmann, Claudia; Homuth, Georg; Thorleifsson, Gudmar; Thorsteinsdottir, Unnur; Bernardini, Laura; Novelli, Antonio; Micale, Lucia; Merla, Giuseppe; Zollino, Marcella; Mari, Francesca; Rizzo, Caterina Lo; Renieri, Alessandra; Silengo, Margherita; Vulto-van Silfhout, Anneke T; Schouten, Meyke; Pfundt, Rolph; de Leeuw, Nicole; Vansenne, Fleur; Maas, Saskia M; Barge-Schaapveld, Daniela QCM; Knegt, Alida C; Stadheim, Barbro; Rodningen, Olaug; Houge, Gunnar; Price, Sue; Hawkes, Lara; Campbell, Carolyn; Kini, Usha; Vogt, Julie; Walters, Robin; Blakemore, Alexandra; Gusella, James F; Shen, Yiping; Scott, Daryl; Bacino, Carlos A; Tsuchiya, Karen; Ladda, Roger; Sell, Susan; Asamoah, Alexander; Hamati, Aline I; Rosenfeld, Jill A; Shaffer, Lisa G; Mitchell, Elyse; Hodge, Jennelle C; Beckmann, Jacques S; Jacquemont, Sébastien; Reymond, Alexandre; Ewans, Lisa J; Mowat, David; Walker, Jan; Amor, David J; Esch, Hilde Van; Leroy, Patricia; Bamforth, John-Steven; Babu, Deepti; Isidor, Bertrand; DiDonato, Nataliya; Hackmann, Karl; Passeggeri, Marzia; Haeringen, Arie van; Smith, Rosemarie; Ellingwood, Sara; Farber, Darren M; Puri, Vinay; Zadeh, Neda; Weaver, David D; Miller, Mandy; Wilks, Timothy; Jorgez, Carolina J; Lafayette, DeeDee; Van Dijck, A; Kooy, R F; Sanlaville, D; Rosenfeld, J A; Shaffer, L G; Andrieux, J; Marshall, C; Scherer, S W; Shen, Y; Gusella, J F; Thorsteinsdottir, U; Thorleifsson, G; Dermitzakis, E T; Deplancke, B; Beckmann, J S; Rougemont, J; Jacquemont, S; Reymond, A

Molecular Psychiatry. June, 2017, Vol. 22 Issue 6, p836.

Rossing, Maria; Albrechtsen, Anders; Skytte, Anne-Bine; Jensen, Uffe B; Ousager, Lilian B; Gerdes, Anne-Marie; Nielsen, Finn C; Hansen, Thomas vO

Journal of Human Genetics. 62(2):151-157

Rots D; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, the Netherlands.; Chater-Diehl E; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Dingemans AJM; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, the Netherlands.; Goodman SJ; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Siu MT; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Cytrynbaum C; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Choufani S; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Hoang N; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada; Department of Genetic Counselling, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Walker S; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Awamleh Z; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Charkow J; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Meyn S; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Pfundt R; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands.; Rinne T; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands.; Gardeitchik T; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands.; de Vries BBA; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, the Netherlands.; Deden AC; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands.; Leenders E; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands.; Kwint M; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands.; Stumpel CTRM; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, 6229 HX Maastricht, the Netherlands.; Stevens SJC; Maastricht University Medical Center, 6229 HX Maastricht, the Netherlands.; Vermeulen JR; Maastricht University Medical Center, 6229 HX Maastricht, the Netherlands.; van Harssel JVT; Department of Genetics, University Medical Center 3584 CX Utrecht, Utrecht, the Netherlands.; Bosch DGM; Department of Genetics, University Medical Center 3584 CX Utrecht, Utrecht, the Netherlands.; van Gassen KLI; Department of Genetics, University Medical Center 3584 CX Utrecht, Utrecht, the Netherlands.; van Binsbergen E; Department of Genetics, University Medical Center 3584 CX Utrecht, Utrecht, the Netherlands.; de Geus CM; University of Groningen, University Medical Center Groningen, 9713 GZ Groningen, the Netherlands.; Brackel H; Catharina Hospital, 5623 EJ Eindhoven, the Netherlands.; Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany.; Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany.; Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany.; Slavotinek A; Division of Genetics, Department of Pediatrics, UCSF, San Francisco, CA 94143, USA.; Strober J; Division of Child Neurology, Department of Neurology & Pediatrics, UCSF, San Francisco, CA 94143, USA.; Crunk A; GeneDx, Gaithersburg, MD 20877, USA.; Folk L; GeneDx, Gaithersburg, MD 20877, USA.; Wentzensen IM; GeneDx, Gaithersburg, MD 20877, USA.; Yang H; GeneDx, Gaithersburg, MD 20877, USA.; Zou F; GeneDx, Gaithersburg, MD 20877, USA.; Millan F; GeneDx, Gaithersburg, MD 20877, USA.; Person R; GeneDx, Gaithersburg, MD 20877, USA.; Xie Y; GeneDx, Gaithersburg, MD 20877, USA.; Liu S; GeneDx, Gaithersburg, MD 20877, USA.; Ousager LB; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark; Department of Clinical Research, Clinical Genetics, University of Southern Denmark, 5230 Odense, Denmark.; Larsen M; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark; Department of Clinical Research, Clinical Genetics, University of Southern Denmark, 5230 Odense, Denmark.; Schultz-Rogers L; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA.; Morava E; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA.; Klee EW; Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55902, USA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55902, USA.; Berry IR; Yorkshire and North East Genomic Laboratory Hub Central Laboratory, Leeds LS1 3EX, UK.; Campbell J; Department of Clinical Genetics, Chapel Allerton Hospital, Leeds LS7 4SA, UK.; Lindstrom K; Phoenix Children's Hospital, Phoenix, AZ 85016 USA.; Pruniski B; Phoenix Children's Hospital, Phoenix, AZ 85016 USA.; Neumeyer AM; Massachusetts General Hospital for Children, Harvard Medical School, Boston, MA 02114, USA.; Radley JA; Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham B15 2TG, UK; Clinical Genetics, London North West University Healthcare Foundation Trust, London HA1 3UJ, UK.; Phornphutkul C; Warren Alpert Medical School of Brown University, Providence, RI 02903, USA.; Schmidt B; University of Virginia School of Medicine, Charlottesville, VA 22903, USA.; Wilson WG; University of Virginia School of Medicine, Charlottesville, VA 22903, USA.; Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, 50406 Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, 50090 Tartu, Estonia.; Reinson K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, 50406 Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, 50090 Tartu, Estonia.; Pajusalu S; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, 50406 Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, 50090 Tartu, Estonia.; van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.; Ruivenkamp C; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.; Cuperus R; Department of Paediatrics, Juliana Children's Hospital HAGA, 2545 AA the Hague, the Netherlands.; Santos-Simarro F; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, 28029 Madrid, Spain.; Palomares-Bralo M; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, 28029 Madrid, Spain.; Pacio-Míguez M; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, 28029 Madrid, Spain.; Ritter A; Division of Human Genetics, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd, Philadelphia, PA 19104, USA.; Bhoj E; Division of Human Genetics, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd, Philadelphia, PA 19104, USA.; Tønne E; Department of Medical Genetics, Oslo University Hospital, 0450 Oslo, Norway.; Tveten K; Department of Medical genetics, Telemark Hospital Trust, 3710 Skien, Norway.; Cappuccio G; Department of Translational Medicine, University of Naples 'Federico II,' 80138 Naples, Italy; Telethon Institute of Genetics and Medicine, 20129 Pozzuoli, Italy.; Brunetti-Pierri N; Department of Translational Medicine, University of Naples 'Federico II,' 80138 Naples, Italy; Telethon Institute of Genetics and Medicine, 20129 Pozzuoli, Italy.; Rowe L; University of Colorado School of Medicine, Aurora, CO 13001, USA.; Bunn J; University of Colorado School of Medicine, Aurora, CO 13001, USA.; Saenz M; University of Colorado School of Medicine, Aurora, CO 13001, USA.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.; Mertens M; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.; Caluseriu O; Department of Medical Genetics in the Faculty of Medicine & Dentistry, University of Alberta, Edmonton, AB T6G 2R3, Canada.; Nowaczyk MJM; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON L8S 4L8, Canada.; Cohn RD; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada; Department of Pediatrics, University of Toronto, Toronto, ON M5G 1V7, Canada.; Kannu P; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2R3, Canada.; Alkhunaizi E; Genetics Program, North York General Hospital, Toronto, ON M2K 1E1, Canada.; Chitayat D; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada; Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, ON M5G 1X5, Canada.; Scherer SW; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Brunner HG; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, the Netherlands; Maastricht University Medical Center, 6229 HX Maastricht, the Netherlands.; Vissers LELM; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, the Netherlands.; Kleefstra T; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, the Netherlands.; Koolen DA; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, the Netherlands. Electronic address: david.koolen@radboudumc.nl.; Weksberg R; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada; Department of Pediatrics, University of Toronto, Toronto, ON M5G 1V7, Canada; Institute of Medical Science, School of Graduate Studies, University of Toronto, Toronto, ON M5S 2Z9, Canada. Electronic address: rweksb@sickkids.ca.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Gil-Rodríguez MC; Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology-Physiology and Pediatrics, Medical School, University of Zaragoza, CIBERER-GCV and ISS-Aragon, Zaragoza, Spain.; Deardorff MA; Ansari M; Tan CA; Parenti I; Baquero-Montoya C; Ousager LB; Puisac B; Hernández-Marcos M; Teresa-Rodrigo ME; Marcos-Alcalde I; Wesselink JJ; Lusa-Bernal S; Bijlsma EK; Braunholz D; Bueno-Martinez I; Clark D; Cooper NS; Curry CJ; Fisher R; Fryer A; Ganesh J; Gervasini C; Gillessen-Kaesbach G; Guo Y; Hakonarson H; Hopkin RJ; Kaur M; Keating BJ; Kibaek M; Kinning E; Kleefstra T; Kline AD; Kuchinskaya E; Larizza L; Li YR; Liu X; Mariani M; Picker JD; Pié Á; Pozojevic J; Queralt E; Richer J; Roeder E; Sinha A; Scott RH; So J; Wusik KA; Wilson L; Zhang J; Gómez-Puertas P; Casale CH; Ström L; Selicorni A; Ramos FJ; Jackson LG; Krantz ID; Das S; Hennekam RC; Kaiser FJ; FitzPatrick DR; Pié J

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Aagaard KS; Department of Otorhinolaryngology, Odense University Hospital, Odense, Denmark.; Brusgaard K; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Miceikaite I; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Larsen MJ; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Kjeldsen AD; Department of Otorhinolaryngology, Odense University Hospital, Odense, Denmark.; Lester EB; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Ousager LB; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Tørring PM; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.

Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

Christiansen M; Department of Clinical Biochemistry, Immunology and Genetics, Statens Serum Institut, Ørestads Boulevard 5, 2300S, Copenhagen, Denmark. mic@ssi.dk.; Hedley PL; Theilade J; Stoevring B; Leren TP; Eschen O; Sørensen KM; Tybjærg-Hansen A; Ousager LB; Pedersen LN; Frikke-Schmidt R; Aidt FH; Hansen MG; Hansen J; Bloch Thomsen PE; Toft E; Henriksen FL; Bundgaard H; Jensen HK; Kanters JK

Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet Subsets: MEDLINE

Detlefsen S; Department of Clinical Pathology, Vejle Hospital, 7100 Vejle, Denmark. S.Detlefsen@gmx.net; Fagerberg CR; Ousager LB; Lindebjerg J; Marcussen N; Nathan T; Sørensen FB

Publisher: W B Saunders Country of Publication: United States NLM ID: 9421547 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-8392 (Electronic) Linking ISSN: 00468177 NLM ISO Abbreviation: Hum Pathol Subsets: MEDLINE

Krøigård AB; aDepartment of Clinical Genetics bH.C. Andersen Children's Hospital, Odense University Hospital, Odense, Denmark cMRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh dUniversity of Southampton, Southampton, UK eDepartment of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.; Jackson AP; Bicknell LS; Baple E; Brusgaard K; Hansen LK; Ousager LB

Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9207893 Publication Model: Print Cited Medium: Internet ISSN: 1473-5717 (Electronic) Linking ISSN: 09628827 NLM ISO Abbreviation: Clin Dysmorphol Subsets: MEDLINE

Maas SM; Department of Paediatrics, Academic Medical Centre, Amsterdam, The Netherlands.; Shaw AC; Department of Clinical Genetics, Guy's & St Thomas' Hospitals, London, United Kingdom.; Bikker H; Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands.; Lüdecke HJ; Institut fur Humangenetik, Universitätsklinikum, Essen, Germany.; van der Tuin K; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.; Badura-Stronka M; Department of Medical Genetics, Poznan University of Medical Genetics, and NZOZ Centre for Medical Genetics GENESIS, Poznań, Poland.; Belligni E; Università di Torino, Dipartimento di Scienze della Sanità Publica e Pediatriche, Torino, Italy.; Biamino E; Università di Torino, Dipartimento di Scienze della Sanità Publica e Pediatriche, Torino, Italy.; Bonati MT; Istituto Auxologico Italiano, IRCCS, Milano, Italy.; Carvalho DR; Genetic Unit, SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil.; Cobben J; Department of Paediatrics, Academic Medical Centre, Amsterdam, The Netherlands.; de Man SA; Department of Paediatrics, Amphia Hospital, Breda, The Netherlands.; Den Hollander NS; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.; Di Donato N; Institut für Klinische Genetik, TU Dresden, Dresden, Germany.; Garavelli L; Clinical Genetics Unit, Obstetric and Paediatric Department, IRCCS, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy.; Grønborg S; Department of Clinical Genetics, Centre for Rare Diseases, Juliane Marie Centre, Copenhagen University Hospital Rigshospitalet, Denmark.; Herkert JC; University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, The Netherlands.; Hoogeboom AJ; Department of Clinical Genetics, Erasmus MC, University Medical Centre Rotterdam, The Netherlands.; Jamsheer A; Department of Medical Genetics, Poznan University of Medical Genetics, and NZOZ Centre for Medical Genetics GENESIS, Poznań, Poland.; Latos-Bielenska A; Department of Medical Genetics, Poznan University of Medical Genetics, and NZOZ Centre for Medical Genetics GENESIS, Poznań, Poland.; Maat-Kievit A; Department of Clinical Genetics, Erasmus MC, University Medical Centre Rotterdam, The Netherlands.; Magnani C; Neonatal Intensive Care Unit, Obstetric and Paediatric Department, University Hospital, Parma, Italy.; Marcelis C; Department of Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.; Mathijssen IB; Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands.; Nielsen M; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.; Otten E; University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, The Netherlands.; Ousager LB; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Pilch J; Department of Paediatrics and Developmental Age Neurology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland.; Plomp A; Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands.; Poke G; Genetic Health Service NZ, Wellington, New Zealand.; Poluha A; Department of Medical Genetics, Lublin, Poland.; Posmyk R; Podlaskie Centre of Clinical Genetics, Bialystok and Department of Perinatology, Medical University in Bialystok, Bialystok, Poland.; Rieubland C; Division of Human Genetics, Department of Paediatrics, Inselspital, University of Bern, Bern, Switzerland.; Silengo M; Università di Torino, Dipartimento di Scienze della Sanità Publica e Pediatriche, Torino, Italy.; Simon M; Department of Clinical Genetics, Erasmus MC, University Medical Centre Rotterdam, The Netherlands.; Steichen E; Department of Paediatrics, Medical University of Innsbruck, Innsbruck, Austria.; Stumpel C; Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht UMC+, Maastricht, The Netherlands.; Szakszon K; Department of Paediatrics, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.; Polonkai E; Department of Paediatrics, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.; van den Ende J; Centre of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium.; van der Steen A; Maritime Medical Genetics Service, Halifax, Nova Scotia, Canada.; van Essen T; University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, The Netherlands.; van Haeringen A; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.; van Hagen JM; Department of Clinical Genetics, VU University Medical Centre, Amsterdam, The Netherlands.; Verheij JB; University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, The Netherlands.; Mannens MM; Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands.; Hennekam RC; Department of Paediatrics, Academic Medical Centre, Amsterdam, The Netherlands; Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands. Electronic address: r.c.hennekam@amc.uva.nl.

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

Fagerberg CR; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark. christina.fagerberg@ouh.regionsyddanmark.dk; Graakjaer J; Heinl UD; Ousager LB; Dreyer I; Kirchhoff M; Rasmussen AA; Lautrup CK; Birkebaek N; Sorensen K

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

Zweier C; Institute of Human Genetics, Friedrich Alexander University Erlangen-Nuremberg, 91054 Erlangen, Germany. czweier@humgenet.uni-erlangen.de; de Jong EK; Zweier M; Orrico A; Ousager LB; Collins AL; Bijlsma EK; Oortveld MA; Ekici AB; Reis A; Schenck A; Rauch A

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE