부산대학교 도서관

Rodriguez-Palmero, A; Boerrigter, MM; Gomez-Andres, D; Aldinger, KA; Marcos-Alcalde, I; Popp, B; Everman, DB; Lovgren, AK; Arpin, S; Bahrambeigi, V; Beunders, G; Bisgaard, AM; Bjerregaard, VA; Bruel, AL; Challman, TD; Cogne, B; Coubes, C; de Man, SA; Denomme-Pichon, AS; Dye, TJ; Elmslie, F; Feuk, L; Garcia-Minaur, S; Gertler, T; Giorgio, E; Gruchy, N; Haack, TB; Haldeman-Englert, CR; Haukanes, BI; Hoyer, J; Hurst, ACE; Isidor, B; Soller, MJ; Kushary, S; Kvarnung, M; Landau, YE; Leppig, KA; Lindstrand, A; Kleinendorst, L; MacKenzie, A; Mandrile, G; Mendelsohn, BA; Moghadasi, S; Morton, JE; Moutton, S; Muuller, AJ; O'Leary, M; Pacio-Miguez, M; Palomares-Bralo, M; Parikh, S; Pfundt, R; Pode-Shakked, B; Rauch, A; Repnikova, E; Revah-Politi, A; Ross, MJ; Ruivenkamp, CAL; Sarrazin, E; Savatt, JM; Schluter, A; Schonewolf-Greulich, B; Shad, Z; Shaw-Smith, C; Shieh, JT; Shohat, M; Spranger, S; Thiese, H; Mau-Them, FT; van Bon, B; van de Burgt, I; van de Laar, IMBH; van Drie, E; van Haelst, MM; van Ravenswaaij-Arts, CM; Verdura, E; Vitobello, A; Waldmuller, S; Whiting, S; Zweier, C; Prada, CE; de Vries, BBA; Dobyns, WB; Reiter, SF; Gomez-Puertas, P; Pujol, A; Tumer, Z

Genetics in medicine : official journal of the American College of Medical Genetics. 23(5):888-899

Aerden, Mio; Denommé-Pichon, Anne-Sophie; Bonneau, Dominique; Bruel, Ange-Line; Delanne, Julian; Gérard, Bénédicte; Mazel, Benoît; Philippe, Christophe; Pinson, Lucile; Prouteau, Clément; Putoux, Audrey; Tran Mau-Them, Frédéric; Viora-Dupont, Éléonore; Vitobello, Antonio; Ziegler, Alban; Piton, Amélie; Isidor, Bertrand; Francannet, Christine; Maillard, Pierre-Yves; Julia, Sophie; Philippe, Anais; Schaefer, Elise; Koene, Saskia; Ruivenkamp, Claudia; Hoffer, Mariette; Legius, Eric; Theunis, Miel; Keren, Boris; Buratti, Julien; Charles, Perrine; Courtin, Thomas; Misra-Isrie, Mala; van Haelst, Mieke; Waisfisz, Quinten; Wieczorek, Dagmar; Schmetz, Ariane; Herget, Theresia; Kortüm, Fanny; Lisfeld, Jasmin; Debray, François-Guillaume; Bramswig, Nuria C.; Atallah, Isis; Fodstad, Heidi; Jouret, Guillaume; Almoguera, Berta; Tahsin-Swafiri, Saoud; Santos-Simarro, Fernando; Palomares-Bralo, Maria; López-González, Vanesa; Kibaek, Maria; Tørring, Pernille M.; Renieri, Alessandra; Bruno, Lucia Pia; Õunap, Katrin; Wojcik, Monica; Hsieh, Tzung-Chien; Krawitz, Peter; Van Esch, Hilde

European Journal of Human Genetics. 31(4):461-468

Rots, Dmitrijs; Chater-Diehl, Eric; Dingemans, Alexander JM; Goodman, Sarah J; Siu, Michelle T; Cytrynbaum, Cheryl; Choufani, Sanaa; Hoang, Ny; Walker, Susan; Awamleh, Zain; Charkow, Joshua; Meyn, Stephen; Pfundt, Rolph; Rinne, Tuula; Gardeitchik, Thatjana; de Vries, Bert BA; Deden, A Chantal; Leenders, Erika; Kwint, Michael; Stumpel, Constance TRM; Stevens, Servi JC; Vermeulen, Jeroen R; van Harssel, Jeske VT; Bosch, Danielle GM; van Gassen, Koen LI; van Binsbergen, Ellen; de Geus, Christa M; Brackel, Hein; Hempel, Maja; Lessel, Davor; Denecke, Jonas; Slavotinek, Anne; Strober, Jonathan; Crunk, Amy; Folk, Leandra; Wentzensen, Ingrid M; Yang, Hui; Zou, Fanggeng; Millan, Francisca; Person, Richard; Xie, Yili; Liu, Shuxi; Ousager, Lilian B; Larsen, Martin; Schultz-Rogers, Laura; Morava, Eva; Klee, Eric W; Berry, Ian R; Campbell, Jennifer; Lindstrom, Kristin; Pruniski, Brianna; Neumeyer, Ann M; Radley, Jessica A; Phornphutkul, Chanika; Schmidt, Berkley; Wilson, William G; Õunap, Katrin; Reinson, Karit; Pajusalu, Sander; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Santos-Simarro, Fernando; Palomares-Bralo, María; Pacio-Míguez, Marta; Ritter, Alyssa; Bhoj, Elizabeth; Tønne, Elin; Tveten, Kristian; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rowe, Leah; Bunn, Jason; Saenz, Margarita; Platzer, Konrad; Mertens, Mareike; Caluseriu, Oana; Nowaczyk, Małgorzata JM; Cohn, Ronald D; Kannu, Peter; Alkhunaizi, Ebba; Chitayat, David; Scherer, Stephen W; Brunner, Han G; Vissers, Lisenka ELM; Kleefstra, Tjitske; Koolen, David A; Weksberg, Rosanna

American Journal of Human Genetics. 108(6)

Boonsawat P; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Asadollahi R; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland; Faculty of Engineering and Science, University of Greenwich London, Medway Campus, Chatham Maritime ME4 4TB, UK.; Niedrist D; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Steindl K; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Begemann A; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Joset P; Medical Genetics, University Hospital Basel, Basel, Switzerland.; Bhoj EJ; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Li D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Zackai E; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Vetro A; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.; Barba C; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy; University of Florence, Florence, Italy.; Guerrini R; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.; Whalen S; Unité Fonctionnelle de Génétique Odellin, Hôpital Armand Trousseau, Paris, France.; Keren B; Département de Génétique, Hôpital de la Pitié-Salpêtrière, Paris, France.; Khan A; Faculty of Science, Department of Biological Science (Zoology), University of Lakki Marwat, Khyber Pakhtunkhwa 28420, Pakistan.; Jing D; Shenzhen Children's Hospital, Shenzhen, Guangdong, China.; Palomares Bralo M; Instituto de Genética Médica y Molecular (INGEMM), Unidad de Trastornos Del Neurodesarrollo, Hospital Universitario La Paz, Madrid, Spain.; Rikeros Orozco E; Instituto de Genética Médica y Molecular (INGEMM), Unidad de Trastornos Del Neurodesarrollo, Hospital Universitario La Paz, Madrid, Spain.; Hao Q; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Schlott Kristiansen B; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Zheng B; Nanjing Key Laboratory of Pediatrics Children's Hospital of Nanjing Medical University, Nanjing, China.; Donnelly D; Northern Ireland Regional Genetics Centre, Belfast Health & Social Care Trust, Belfast, Northern Ireland.; Clowes V; Thames Regional Genetics Service, North West University Healthcare NHS Trust, London, UK.; Zweier M; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Papik M; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Siegel G; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Sabatino V; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Mocera M; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Horn AHC; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Sticht H; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Rauch A; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland; Pediatric University Hospital Zurich, Zurich, Switzerland. Electronic address: anita.rauch@medgen.uzh.ch.

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

María Del Rocío PB; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Palomares Bralo M; CIBERER-ISCIII and INGEMM, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ITHACA- European Reference Network, Spain.; Vanhooydonck M; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Hamerlinck L; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; D'haene E; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Leimbacher S; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Jacobs EZ; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; De Cock L; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Department of Diagnostic Sciences, Ghent University, Ghent, Belgium.; D'haenens E; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Dheedene A; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Malfait Z; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Vantomme L; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Silva A; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.; Rooney K; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Santos-Simarro F; Unit of Molecular Diagnostics and Clinical Genetics, Hospital Universitari Son Espases, Health Research Institute of the Balearic Islands (IdiSBa), Palma, Spain.; Lleuger-Pujol R; Hereditary Cancer Program, Catalan Institute of Oncology, Doctor Josep Trueta University Hospital; Precision Oncology Group (OncoGIR-Pro), Institut d'Investigació Biomèdica de Girona (IDIGBI), Girona, Spain.; García-Miñaúr S; CIBERER-ISCIII and INGEMM, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ITHACA- European Reference Network, Spain.; Losantos-García I; Department of Biostatistics. Hospital Universitario La Paz, Madrid, Spain.; Menten B; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Gestri G; University College London, London, England, Great Britain.; Ragge N; Birmingham Women's and Children's NHS Foundation Trust, Clinical Genetics Unit, Birmingham Womens Hospital, Lavender House, Mindelsohn Way, Edgbaston, Birmingham B15 2TG.; Sadikovic B; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Bogaert E; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Syx D; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Callewaert B; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Vergult S; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Julián Nevado; Sixto García-Miñaúr; María Palomares-Bralo; Elena Vallespín; Encarna Guillén-Navarro; Jordi Rosell; Cristina Bel-Fenellós; María Ángeles Mori; Montserrat Milá; Miguel del Campo; Pilar Barrúz; Fernando Santos-Simarro; Gabriela Obregón; Carmen Orellana; Harry Pachajoa; Jair Antonio Tenorio; Enrique Galán; Juan C. Cigudosa; Angélica Moresco; César Saleme; Silvia Castillo; Elisabeth Gabau; Luis Pérez-Jurado; Ana Barcia; Maria Soledad Martín; Elena Mansilla; Isabel Vallcorba; Pedro García-Murillo; Franco Cammarata-Scalisi; Natálya Gonçalves Pereira; Raquel Blanco-Lago; Mercedes Serrano; Juan Dario Ortigoza-Escobar; Blanca Gener; Verónica Adriana Seidel; Pilar Tirado; Pablo Lapunzina; Spanish PMS Working Group; Mena Rocío; Lleguer Roser; Fernández-Montaño Victoria; Martín Rubén; Fernández Blanca; García-Santiago Fé; Gómez del Pozo Victoria; Peña Carolina; Alhambra Norma; García Carlos; Rodríguez Juan Ramón; Martínez-Bermejo Antonio; Málaga Ignacio; Martínez-Monseny Antonio Federico; Armstrong Judith; Anticona Jennifer; Hernando-Davalillo Cristina; San Martí Adrián Alcalá; Martorell Loreto; Yubero Delia; Nunes Tania; Callaghan Mar O´; Alonso Xenia; Ramos Federico; López Jesús Casas; López-González Vanesa; M Juliana Ballesta; Armengol Lluís; González-Meneses Antonio; Borrego Salud; Roselló Mónica; Suela Javier; Pérez-Granero Ángeles; Rodríguez-Revenga Laia

Frontiers in Genetics, Vol 13 (2022)

van der Laan L; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands.; Lauffer P; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands.; Rooney K; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.; Silva A; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.; Haghshenas S; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada.; Relator R; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada.; Levy MA; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada.; Trajkova S; Department of Medical Sciences, University of Torino, Torino, Italy.; Huisman SA; Amsterdam UMC location University of Amsterdam, Emma Children's Hospital, Department of Pediatrics, Amsterdam, the Netherlands; Zodiak, Prinsenstichting, Purmerend, the Netherlands.; Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Kleefstra T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; van Bon BW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Baysal Ö; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Zweier C; Department of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany; Department of Human Genetics, University of Bern, Inselspital Universitätsspital Bern, Bern, Switzerland.; Palomares-Bralo M; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Madrid, Spain.; Fischer J; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at the Technische Universität Dresden, Dresden, Germany.; Szakszon K; Institute of Paediatrics, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.; Faivre L; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD «Génétique des Anomalies du Développement», FHUTRANSLAD, Dijon, France; CHU Dijon Bourgogne, Centre de Génétique, Centre de Référence Maladies Rares «Anomalies du Développement et Syndromes Malformatifs», FHU-TRANSLDAD, Dijon, France.; Piton A; Genetic Diagnosis Laboratories, Strasbourg University Hospital, Strasbourg 67000, France.; Mesman S; Swammerdam Institute for Life Sciences, FNWI, University of Amsterdam, Amsterdam, the Netherlands.; Hochstenbach R; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands.; Elting MW; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands.; van Hagen JM; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands.; Plomp AS; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands.; Mannens MMAM; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands.; Alders M; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands.; van Haelst MM; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands.; Ferrero GB; Department of Public Health and Pediatrics, University of Torino, Turin, Italy.; Brusco A; Department of Medical Sciences, University of Torino, Turin, Italy.; Henneman P; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands.; Sweetser DA; Division of Medical Genetics and Metabolism and Center for Genomic Medicine, Massachusetts General for Children, Boston, MA, USA.; Sadikovic B; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.; Vitobello A; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Menke LA; Amsterdam Reproduction & Development, Amsterdam, the Netherlands; Amsterdam UMC location University of Amsterdam, Emma Children's Hospital, Department of Pediatrics, Amsterdam, the Netherlands; Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam, the Netherlands. Electronic address: l.a.menke@amsterdamumc.nl.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

Michael A. Levy; Haley McConkey; Jennifer Kerkhof; Mouna Barat-Houari; Sara Bargiacchi; Elisa Biamino; María Palomares Bralo; Gerarda Cappuccio; Andrea Ciolfi; Angus Clarke; Barbara R. DuPont; Mariet W. Elting; Laurence Faivre; Timothy Fee; Robin S. Fletcher; Florian Cherik; Aidin Foroutan; Michael J. Friez; Cristina Gervasini; Sadegheh Haghshenas; Benjamin A. Hilton; Zandra Jenkins; Simranpreet Kaur; Suzanne Lewis; Raymond J. Louie; Silvia Maitz; Donatella Milani; Angela T. Morgan; Renske Oegema; Elsebet Østergaard; Nathalie Ruiz Pallares; Maria Piccione; Simone Pizzi; Astrid S. Plomp; Cathryn Poulton; Jack Reilly; Raissa Relator; Rocio Rius; Stephen Robertson; Kathleen Rooney; Justine Rousseau; Gijs W.E. Santen; Fernando Santos-Simarro; Josephine Schijns; Gabriella Maria Squeo; Miya St John; Christel Thauvin-Robinet; Giovanna Traficante; Pleuntje J. van der Sluijs; Samantha A. Vergano; Niels Vos; Kellie K. Walden; Dimitar Azmanov; Tugce Balci; Siddharth Banka; Jozef Gecz; Peter Henneman; Jennifer A. Lee; Marcel M.A.M. Mannens; Tony Roscioli; Victoria Siu; David J. Amor; Gareth Baynam; Eric G. Bend; Kym Boycott; Nicola Brunetti-Pierri; Philippe M. Campeau; John Christodoulou; David Dyment; Natacha Esber; Jill A. Fahrner; Mark D. Fleming; David Genevieve; Kristin D. Kerrnohan; Alisdair McNeill; Leonie A. Menke; Giuseppe Merla; Paolo Prontera; Cheryl Rockman-Greenberg; Charles Schwartz; Steven A. Skinner; Roger E. Stevenson; Antonio Vitobello; Marco Tartaglia; Marielle Alders; Matthew L. Tedder; Bekim Sadikovic

HGG Advances, Vol 3, Iss 1, Pp 100075- (2022)

Palma-Milla C; Unidad de Dismorfología y Genética (UDisGen), Hospital Universitario 12 de Octubre, Madrid, Spain; Department of Genetics, Hospital Universitario 12 de Octubre, Madrid, Spain. Electronic address: palmamilla.carmen@gmail.com.; Prat-Planas A; Faculty of Biology, Department of Genetics, Microbiology and Statistics, Institute of Biomedicine (IBUB), Universitat de Barcelona, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain; Institut de Recerca Sant Joan de Déu (IRSJD), Esplugues de Llobregat, Spain.; Soengas-Gonda E; Unidad de Dismorfología y Genética (UDisGen), Hospital Universitario 12 de Octubre, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.; Centeno-Pla M; Faculty of Biology, Department of Genetics, Microbiology and Statistics, Institute of Biomedicine (IBUB), Universitat de Barcelona, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain; Institut de Recerca Sant Joan de Déu (IRSJD), Esplugues de Llobregat, Spain; Clinical Biochemistry Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Sánchez-Pozo J; Unidad de Dismorfología y Genética (UDisGen), Hospital Universitario 12 de Octubre, Madrid, Spain; Department of Pediatric Endocrinology, Hospital Universitario 12 de Octubre, Madrid, Spain.; Lazaro-Rodriguez I; Unidad de Dismorfología y Genética (UDisGen), Hospital Universitario 12 de Octubre, Madrid, Spain; Department of Pediatric Endocrinology, Hospital Universitario 12 de Octubre, Madrid, Spain.; Quesada-Espinosa JF; Unidad de Dismorfología y Genética (UDisGen), Hospital Universitario 12 de Octubre, Madrid, Spain; Department of Genetics, Hospital Universitario 12 de Octubre, Madrid, Spain.; Arteche-Lopez A; Unidad de Dismorfología y Genética (UDisGen), Hospital Universitario 12 de Octubre, Madrid, Spain; Department of Genetics, Hospital Universitario 12 de Octubre, Madrid, Spain.; Olival J; Genomic Unit, Molecular and Genetic Medicine Section, Hospital Sant Joan de Déu, Barcelona, Spain.; Pacio-Miguez M; INGEMM, Institute of Medical Genetics, Hospital Universitario La Paz, Madrid, Spain.; Palomares-Bralo M; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain; INGEMM, Institute of Medical Genetics, Hospital Universitario La Paz, Madrid, Spain; ITHACA - European Reference Network, INGEMM, Institute of Medical Genetics, Hospital Universitario La Paz, Madrid, Spain.; Santos-Simarro F; Unidad de Diagnóstico Molecular y Genética Clínica, Hospital Universitario Son Espases, Palma de Mallorca, Spain.; Cancho-Candela R; Neuropediatrics, Faculty of Medicine, Hospital Universitario Río Hortega, Universidad de Valladolid, Valladolid, Spain.; Vázquez-López M; Neuropediatrics Section, Hospital Gregorio Marañón, Madrid, Spain.; Seidel V; Clinical Genetics, Pediatrics Department, Hospital Gregorio Marañón, Madrid, Spain.; Martinez-Monseny AF; Institut de Recerca Sant Joan de Déu (IRSJD), Esplugues de Llobregat, Spain; Department of Genetic Medicine, Pediatric Institute of Rare Diseases (IPER), Hospital Sant Joan de Déu, Barcelona, Spain.; Casas-Alba D; Institut de Recerca Sant Joan de Déu (IRSJD), Esplugues de Llobregat, Spain; Department of Genetic Medicine, Pediatric Institute of Rare Diseases (IPER), Hospital Sant Joan de Déu, Barcelona, Spain.; Grinberg D; Faculty of Biology, Department of Genetics, Microbiology and Statistics, Institute of Biomedicine (IBUB), Universitat de Barcelona, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain; Institut de Recerca Sant Joan de Déu (IRSJD), Esplugues de Llobregat, Spain.; Balcells S; Faculty of Biology, Department of Genetics, Microbiology and Statistics, Institute of Biomedicine (IBUB), Universitat de Barcelona, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain; Institut de Recerca Sant Joan de Déu (IRSJD), Esplugues de Llobregat, Spain.; Serrano M; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain; Institut de Recerca Sant Joan de Déu (IRSJD), Esplugues de Llobregat, Spain; Pediatric Neurology Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Rabionet R; Faculty of Biology, Department of Genetics, Microbiology and Statistics, Institute of Biomedicine (IBUB), Universitat de Barcelona, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain; Institut de Recerca Sant Joan de Déu (IRSJD), Esplugues de Llobregat, Spain.; Martin MA; Unidad de Dismorfología y Genética (UDisGen), Hospital Universitario 12 de Octubre, Madrid, Spain; Department of Genetics, Hospital Universitario 12 de Octubre, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain; Grupo de Enfermedades Mitocondriales y Neurometabólicas, Instituto de Investigación Hospital 12 de Octubre (imas12), Madrid, Spain.; Urreizti R; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain; Institut de Recerca Sant Joan de Déu (IRSJD), Esplugues de Llobregat, Spain; Clinical Biochemistry Department, Hospital Sant Joan de Déu, Barcelona, Spain.

Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

Levy, Michael A.; Relator, Raissa; McConkey, Haley; Pranckeviciene, Erinija; Kerkhof, Jennifer; Barat-Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Palomares Bralo, María; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; DuPont, Barbara R.; Elting, Mariet W.; Faivre, Laurence; Fee, Timothy; Ferilli, Marco; Fletcher, Robin S.; Cherick, Florian; Foroutan, Aidin; Friez, Michael J.; Gervasini, Cristina; Haghshenas, Sadegheh; Hilton, Benjamin A.; Jenkins, Zandra; Kaur, Simranpreet; Lewis, Suzanne; Louie, Raymond J.; Maitz, Silvia; Milani, Donatella; Morgan, Angela T.; Oegema, Renske; Østergaard, Elsebet; Pallares, Nathalie R.; Piccione, Maria; Plomp, Astrid S.; Poulton, Cathryn; Reilly, Jack; Rius, Rocio; Robertson, Stephen; Rooney, Kathleen; Rousseau, Justine; Santen, Gijs W.E.; Santos-Simarro, Fernando; Schijns, Josephine; Squeo, Gabriella M.; John, Miya St; Thauvin-Robinet, Christel; Traficante, Giovanna; van der Sluijs, Pleuntje J.; Vergano, Samantha A.; Vos, Niels; Walden, Kellie K.; Azmanov, Dimitar; Balci, Tugce B.; Banka, Siddharth; Gecz, Jozef; Henneman, Peter; Lee, Jennifer A.; Mannens, Marcel M.A.M.; Roscioli, Tony; Siu, Victoria; Amor, David J.; Baynam, Gareth; Bend, Eric G.; Boycott, Kym; Brunetti-Pierri, Nicola; Campeau, Philippe M.; Campion, Dominique; Christodoulou, John; Dyment, David; Esber, Natacha; Fahrner, Jill A.; Fleming, Mark D.; Genevieve, David; Heron, Delphine; Husson, Thomas; Kernohan, Kristin D.; McNeill, Alisdair; Menke, Leonie A.; Merla, Giuseppe; Prontera, Paolo; Rockman-Greenberg, Cheryl; Schwartz, Charles; Skinner, Steven A.; Stevenson, Roger E.; Vincent, Marie; Vitobello, Antonio; Tartaglia, Marco; Alders, Marielle; Tedder, Matthew L.; Sadikovic, Bekim

Levy , M A , Relator , R , McConkey , H , Pranckeviciene , E , Kerkhof , J , Barat-Houari , M , Bargiacchi , S , Biamino , E , Palomares Bralo , M , Cappuccio , G , Ciolfi , A , Clarke , A , DuPont , B R , Elting , M W , Faivre , L , Fee , T , Ferilli , M , Fletcher , R S , Cherick , F , Foroutan , A , Friez , M J , Gervasini , C , Haghshenas , S , Hilton , B A , Jenkins , Z , Kaur , S , Lewis , S , Louie , R J , Maitz , S , Milani , D , Morgan , A T , Oegema , R , Østergaard , E , Pallares , N R , Piccione , M , Plomp , A S , Poulton , C , Reilly , J , Rius , R , Robertson , S , Rooney , K , Rousseau , J , Santen , G W E , Santos-Simarro , F , Schijns , J , Squeo , G M , John , M S , Thauvin-Robinet , C , Traficante , G , van der Sluijs , P J , Vergano , S A , Vos , N , Walden , K K , Azmanov , D , Balci , T B , Banka , S , Gecz , J , Henneman , P , Lee , J A , Mannens , M M A M , Roscioli , T , Siu , V , Amor , D J , Baynam , G , Bend , E G , Boycott , K , Brunetti-Pierri , N , Campeau , P M , Campion , D , Christodoulou , J , Dyment , D , Esber , N , Fahrner , J A , Fleming , M D , Genevieve , D , Heron , D , Husson , T , Kernohan , K D , McNeill , A , Menke , L A , Merla , G , Prontera , P , Rockman-Greenberg , C , Schwartz , C , Skinner , S A , Stevenson , R E , Vincent , M , Vitobello , A , Tartaglia , M , Alders , M , Tedder , M L & Sadikovic , B 2022 , ' Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders ' , Human Mutation , vol. 43 , no. 11 , pp. 1609-1628 .