부산대학교 도서관

van de Putte, R; Dworschak, GC; Brosens, Erwin; Reutter, HM; Marcelis, CL; Acuna-Hidalgo, R; Kurtas, NE; Steehouwer, M; Dunwoodie, SL; Schmiedeke, E; Marzheuser, S; Schwarzer, N; Brooks, Alice; de Klein, Annelies; Sloots, C.E.J.; Tibboel, Dick; Brisighelli, G; Morandi, A; Bedeschi, MF; Bates, MD; Levitt, MA; de la Pena, A; de Blaauw, I; Roeleveld, N; Brunner, HG; de Rooij, I; Hoischen, A

van de Putte , R , Dworschak , GC , Brosens , E , Reutter , HM , Marcelis , CL , Acuna-Hidalgo , R , Kurtas , NE , Steehouwer , M , Dunwoodie , SL , Schmiedeke , E , Marzheuser , S , Schwarzer , N , Brooks , A , de Klein , A , Sloots , C E J , Tibboel , D , Brisighelli , G , Morandi , A , Bedeschi , MF , Bates , MD , Levitt , MA , de la Pena , A , de Blaauw , I , Roeleveld , N , Brunner , HG , de Rooij , I & Hoischen , A 2020 , ' A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies ' , Frontiers in Pediatrics , vol. 8 , 310 .

Lowther C; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Valkanas E; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Program in Biological and Biomedical Sciences, Division of Medical Sciences, Harvard Medical School, Boston, MA, USA.; Giordano JL; Department of Obstetrics & Gynecology, Columbia University Medical Center, New York, NY, USA.; Wang HZ; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Currall BB; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA.; O'Keefe K; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Pierce-Hoffman E; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Kurtas NE; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Whelan CW; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Hao SP; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Weisburd B; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Jalili V; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Fu J; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Wong I; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Collins RL; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Program in Bioinformatics and Integrative Genomics, Division of Medical Sciences, Harvard Medical School, Boston, MA, USA.; Zhao X; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Austin-Tse CA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Department of Pathology, Harvard Medical School, Boston, MA, USA.; Evangelista E; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Lemire G; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Aggarwal VS; Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY, USA.; Lucente D; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Gauthier LD; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Tolonen C; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Sahakian N; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Stevens C; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; An JY; School of Biosystem and Biomedical Science, Korea University, Seoul, South Korea.; Dong S; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.; Norton ME; Center for Maternal-Fetal Precision Medicine, University of California, San Francisco, San Francisco, CA, USA; Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco, San Francisco, California, USA.; MacKenzie TC; Center for Maternal-Fetal Precision Medicine, University of California, San Francisco, San Francisco, CA, USA.; Devlin B; Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; Gilmore K; Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Powell BC; Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Brandt A; Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Vetrini F; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.; DiVito M; Department of Obstetrics & Gynecology, Columbia University Medical Center, New York, NY, USA.; Sanders SJ; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.; MacArthur DG; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Centre for Population Genomics, Garvan Institute of Medical Research, and University of New South Wales Sydney, Sydney, NSW, Australia; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Hodge JC; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.; O'Donnell-Luria A; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Rehm HL; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Vora NL; Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Levy B; Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY, USA.; Brand H; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Wapner RJ; Department of Obstetrics & Gynecology, Columbia University Medical Center, New York, NY, USA.; Talkowski ME; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA; Program in Biological and Biomedical Sciences, Division of Medical Sciences, Harvard Medical School, Boston, MA, USA; Program in Bioinformatics and Integrative Genomics, Division of Medical Sciences, Harvard Medical School, Boston, MA, USA. Electronic address: mtalkowski@mgh.harvard.edu.

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

Schöpflin R; Max Planck Institute for Molecular Genetics, RG Development & Disease, Berlin, Germany.; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.; Max Planck Institute for Molecular Genetics, Department of Computational Molecular Biology, Berlin, Germany.; Melo US; Max Planck Institute for Molecular Genetics, RG Development & Disease, Berlin, Germany.; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.; Moeinzadeh H; Max Planck Institute for Molecular Genetics, Department of Computational Molecular Biology, Berlin, Germany.; Heller D; Max Planck Institute for Molecular Genetics, Department of Computational Molecular Biology, Berlin, Germany.; Laupert V; Max Planck Institute for Molecular Genetics, Department of Computational Molecular Biology, Berlin, Germany.; Hertzberg J; Max Planck Institute for Molecular Genetics, RG Development & Disease, Berlin, Germany.; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.; Max Planck Institute for Molecular Genetics, Department of Computational Molecular Biology, Berlin, Germany.; Holtgrewe M; CUBI-Core Unit Bioinformatics, Berlin Institute of Health, Berlin, Germany.; Charité-University Medicine Berlin, Berlin, Germany.; Alavi N; Max Planck Institute for Molecular Genetics, Department of Computational Molecular Biology, Berlin, Germany.; Klever MK; Max Planck Institute for Molecular Genetics, RG Development & Disease, Berlin, Germany.; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.; Jungnitsch J; Max Planck Institute for Molecular Genetics, RG Development & Disease, Berlin, Germany.; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.; Comak E; Max Planck Institute for Molecular Genetics, Department of Computational Molecular Biology, Berlin, Germany.; Türkmen S; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.; Laboratoire national de santé, Dudelange, Luxembourg.; Horn D; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.; Duffourd Y; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD « Génétique des Anomalies du Développement », FHU-TRANSLAD, Dijon, France.; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Faivre L; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD « Génétique des Anomalies du Développement », FHU-TRANSLAD, Dijon, France.; Department of Genetics and Centres of Reference for rare disorders, developmental abnormalities and intellectual disabilities, FHU TRANSLAD and GIMI Institute, University Hospital Dijon, Dijon, France.; Callier P; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD « Génétique des Anomalies du Développement », FHU-TRANSLAD, Dijon, France.; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Sanlaville D; Department of Medical Genetics, University Hospital of Lyon, 69007, Lyon, France.; Zuffardi O; Medical Genetics, Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Tenconi R; Genetica Clinica, Dipartimento di Pediatria, Università di Padova, Padova, Italy.; Kurtas NE; Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy.; Giglio S; Medical Genetics Unit, University of Cagliari, Cagliari, Italy.; Prager B; Praxis für Humangenetik, Kinderzentrum Dresden-Friedrichstadt, Dresden, Germany.; Latos-Bielenska A; Department of Medical Genetics, University of Medical Sciences in Poznan, Poznan, Poland.; Vogel I; Department for Clinical Medicine, Aarhus University, Aarhus, Denmark.; Bugge M; Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.; Tommerup N; Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.; Spielmann M; Max Planck Institute for Molecular Genetics, RG Development & Disease, Berlin, Germany.; Institute of Human Genetics, University Hospitals Schleswig-Holstein, University of Lübeck and Kiel University, 23562 Lübeck, 24105, Kiel, Germany.; DZHK (German Centre for Cardiovascular Research), partner site Hamburg/Lübeck/Kiel, 23562, Lübeck, Germany.; Vitobello A; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD « Génétique des Anomalies du Développement », FHU-TRANSLAD, Dijon, France.; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Kalscheuer VM; Max Planck Institute for Molecular Genetics, RG Development & Disease, Berlin, Germany.; Vingron M; Max Planck Institute for Molecular Genetics, Department of Computational Molecular Biology, Berlin, Germany. vingron@molgen.mpg.de.; Mundlos S; Max Planck Institute for Molecular Genetics, RG Development & Disease, Berlin, Germany. stefan.mundlos@charite.de.; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany. stefan.mundlos@charite.de.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Provenzano A; Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences 'Mario Serio', University of Florence, Florence, Italy. aldesia.provenzano@unifi.it.; La Barbera A; Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences 'Mario Serio', University of Florence, Florence, Italy.; Scagnet M; Department of Neurosurgery, 'A. Meyer' Children Hospital of Florence, Florence, Italy.; Pagliazzi A; Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences 'Mario Serio', University of Florence, Florence, Italy.; Traficante G; Medical Genetics Unit, 'A. Meyer' Children Hospital of Florence, Florence, Italy.; Pantaleo M; Medical Genetics Unit, 'A. Meyer' Children Hospital of Florence, Florence, Italy.; Tiberi L; Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences 'Mario Serio', University of Florence, Florence, Italy.; Vergani D; Medical Genetics Unit, 'A. Meyer' Children Hospital of Florence, Florence, Italy.; Kurtas NE; Medical Genetics Unit, 'A. Meyer' Children Hospital of Florence, Florence, Italy.; Guarducci S; Medical Genetics Unit, 'A. Meyer' Children Hospital of Florence, Florence, Italy.; Bargiacchi S; Medical Genetics Unit, 'A. Meyer' Children Hospital of Florence, Florence, Italy.; Forzano G; Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences 'Mario Serio', University of Florence, Florence, Italy.; Artuso R; Medical Genetics Unit, 'A. Meyer' Children Hospital of Florence, Florence, Italy.; Palazzo V; Medical Genetics Unit, 'A. Meyer' Children Hospital of Florence, Florence, Italy.; Kura A; Department of Experimental and Clinical Medicine, Atherothrombotic Diseases Center, University of Florence, Careggi Hospital, Florence, Italy.; Giordano F; Department of Neurosurgery, 'A. Meyer' Children Hospital of Florence, Florence, Italy.; di Feo D; Department of Radiology, 'A. Meyer' Children Hospital of Florence, Florence, Italy.; Mortilla M; Department of Radiology, 'A. Meyer' Children Hospital of Florence, Florence, Italy.; De Filippi C; Department of Radiology, 'A. Meyer' Children Hospital of Florence, Florence, Italy.; Mattei G; Department of Information Engineering, University of Florence, Florence, Italy.; Garavelli L; Medical Genetics Unit, Department of Mother and Child, Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, Reggio Emilia, Italy.; Giusti B; Department of Experimental and Clinical Medicine, Atherothrombotic Diseases Center, University of Florence, Careggi Hospital, Florence, Italy.; Genitori L; Department of Neurosurgery, 'A. Meyer' Children Hospital of Florence, Florence, Italy.; Zuffardi O; Unit of Medical Genetics, Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Giglio S; Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences 'Mario Serio', University of Florence, Florence, Italy.; Medical Genetics Unit, 'A. Meyer' Children Hospital of Florence, Florence, Italy.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

van de Putte R; Department for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, Netherlands.; Dworschak GC; Department of Pediatrics, Children's Hospital, University Hospital Bonn, Bonn, Germany.; Institute of Human Genetics, University of Bonn, Bonn, Germany.; Brosens E; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, Netherlands.; Department of Pediatric Surgery, Erasmus Medical Centre-Sophia Children's Hospital, Rotterdam, Netherlands.; Reutter HM; Institute of Human Genetics, University of Bonn, Bonn, Germany.; Department of Neonatology, Children's Hospital, University Hospital Bonn, Bonn, Germany.; Marcelis CLM; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands.; Acuna-Hidalgo R; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands.; Kurtas NE; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands.; Steehouwer M; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands.; Dunwoodie SL; Victor Chang Cardiac Research Institute, UNSW Sydney, Sydney, NSW, Australia.; Schmiedeke E; Department of Pediatric Surgery and Urology, Centre for Child and Youth Health, Klinikum Bremen-Mitte, Bremen, Germany.; Märzheuser S; Department of Pediatric Surgery, Campus Virchow Clinic, Charité University Hospital Berlin, Berlin, Germany.; Schwarzer N; SoMA e.V., Self-Help Organization for People With Anorectal Malformation, Munich, Germany.; Brooks AS; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, Netherlands.; de Klein A; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, Netherlands.; Sloots CEJ; Department of Pediatric Surgery, Erasmus Medical Centre-Sophia Children's Hospital, Rotterdam, Netherlands.; Tibboel D; Department of Pediatric Surgery, Erasmus Medical Centre-Sophia Children's Hospital, Rotterdam, Netherlands.; Brisighelli G; Department of Paediatric Surgery, Chris Hani Baragwanath Academic Hospital, Johannesburg, South Africa.; Department of Pediatric Surgery, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy.; Morandi A; Department of Pediatric Surgery, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy.; Bedeschi MF; Medical Genetic Unit, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy.; Bates MD; Division of Gastroenterology and Nutrition, Dayton Children's Hospital, Dayton, OH, United States.; Department of Pediatrics, Boonshoft School of Medicine, Wright State University, Dayton, OH, United States.; Levitt MA; Division of Gastroenterology and Nutrition, Dayton Children's Hospital, Dayton, OH, United States.; Department of Pediatrics, Boonshoft School of Medicine, Wright State University, Dayton, OH, United States.; Department of Surgery, Center for Colorectal and Pelvic Reconstruction, Nationwide Children's Hospital, The Ohio State University, Columbus, OH, United States.; Peña A; Division of Gastroenterology and Nutrition, Dayton Children's Hospital, Dayton, OH, United States.; Department of Pediatrics, Boonshoft School of Medicine, Wright State University, Dayton, OH, United States.; Department of Surgery, International Center for Colorectal Care, Children's Hospital Colorado, University of Colorado, Aurora, CO, United States.; de Blaauw I; Department of Surgery-Pediatric Surgery, Radboudumc Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands.; Roeleveld N; Department for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, Netherlands.; Brunner HG; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, Netherlands.; van Rooij IALM; Department for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, Netherlands.; Hoischen A; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands.; Department of Internal Medicine and Radboud Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, Netherlands.

Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101615492 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2360 (Print) Linking ISSN: 22962360 NLM ISO Abbreviation: Front Pediatr Subsets: PubMed not MEDLINE

Kurtas NE; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Xumerle L; Personal Genomics srl, Department of Biotechnologies, University of Verona, Verona, Italy.; Giussani U; Ospedale Papa Giovanni XXIII, Bergamo, Italy.; Pansa A; Ospedale Papa Giovanni XXIII, Bergamo, Italy.; Cardarelli L; Laboratorio Analisi CITOTEST. Sarmeola di Rubano, Padova, Italy.; Bertini V; Azienda Ospedaliero Universitaria Pisana, Pisa, Italy.; Valetto A; Azienda Ospedaliero Universitaria Pisana, Pisa, Italy.; Liehr T; Institute of Human Genetics, Jena University Hospital, Jena, Germany.; Clara Bonaglia M; Cytogenetics Laboratory, Scientific Institute, IRCCS Eugenio Medea, Lecco, Italy.; Errichiello E; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Delledonne M; Personal Genomics srl, Department of Biotechnologies, University of Verona, Verona, Italy.; Zuffardi O; Department of Molecular Medicine, University of Pavia, Pavia, Italy.

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

Kurtas NE; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Xumerle L; Department of Biotechnology, University of Verona, Verona, Italy.; Leonardelli L; Department of Biotechnology, University of Verona, Verona, Italy.; Delledonne M; Department of Biotechnology, University of Verona, Verona, Italy.; Brusco A; Department of Medical Sciences, University of Turin, Torino, Italy.; Chrzanowska K; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Schinzel A; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Larizza D; Pediatrics and Adolescentology Unit, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.; Guerneri S; Laboratory of Medical Genetics, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Natacci F; Laboratory of Medical Genetics, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Bonaglia MC; Cytogenetics Laboratory, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.; Reho P; Biomedical Experimental and Clinical Sciences 'Mario Serio', University of Florence, Firenze, Italy.; Manolakos E; Laboratory of Genetics, Access to genome P.C., Thessaloniki, Greece.; Mattina T; Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy.; Soli F; Department of Genetics, Santa Chiara Hospital, Trento, Italy.; Provenzano A; Biomedical Experimental and Clinical Sciences 'Mario Serio', University of Florence, Firenze, Italy.; Azienda Ospedaliero-Universitaria Meyer, Firenze, Italy.; Al-Rikabi AH; Institute of Human Genetics, Jena University Hospital, Jena, Germany.; Errichiello E; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Nazaryan-Petersen L; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.; Giglio S; Biomedical Experimental and Clinical Sciences 'Mario Serio', University of Florence, Firenze, Italy.; Azienda Ospedaliero-Universitaria Meyer, Firenze, Italy.; Tommerup N; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.; Liehr T; Institute of Human Genetics, Jena University Hospital, Jena, Germany.; Zuffardi O; Department of Molecular Medicine, University of Pavia, Pavia, Italy.

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

Bonaglia MC; Cytogenetics Laboratory, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy. clara.bonaglia@bp.lnf.it.; Kurtas NE; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Errichiello E; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Bertuzzo S; Cytogenetics Laboratory, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.; Beri S; Cytogenetics Laboratory, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.; Mehrjouy MM; Department of Cellular and Molecular Medicine (ICMM), University of Copenhagen, Copenhagen, Denmark.; Provenzano A; Medical Genetics Section, Department of Clinical Pathophysiology, University of Florence, Florence, Italy.; Vergani D; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Pecile V; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.; Novara F; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Reho P; Medical Genetics Section, Department of Clinical Pathophysiology, University of Florence, Florence, Italy.; Di Giacomo MC; Laboratorio di Citogenetica U.O.C. Anatomia Patologica AOR Ospedale San Carlo, Potenza, Italy.; Discepoli G; Laboratorio di Genetica Medica-SOD Clinica Pediatrica, Azienda Ospedaliero-Universitaria Ospedali Riuniti, Ancona, Italy.; Giorda R; Molecular Biology Laboratory, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.; Aldred MA; Department of Genetics, Case Western Reserve University School of Medicine, Cleveland, USA.; Santos-Rebouças CB; Department of Genetics, State University of Rio de Janeiro, Rio de Janeiro, Brazil.; Goncalves AP; Department of Genetics, State University of Rio de Janeiro, Rio de Janeiro, Brazil.; Abuelo DN; Warren Alpert School of Medicine of Brown University, Providence, RI, 02903, USA.; Giglio S; Medical Genetics Section, Department of Clinical Pathophysiology, University of Florence, Florence, Italy.; Ricca I; IRCCS Fondazione Stella Maris, Pisa, Italy.; Franchi F; Medical Genetics Laboratory, Azienda Ospedaliera di Reggio Emilia, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy.; Patsalis P; Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.; Sismani C; Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.; Morí MA; Section of Functional and Structural Genomics Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; Nevado J; Section of Functional and Structural Genomics Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; Tommerup N; Department of Cellular and Molecular Medicine (ICMM), University of Copenhagen, Copenhagen, Denmark.; Zuffardi O; Department of Molecular Medicine, University of Pavia, Pavia, Italy. orsetta.zuffardi@unipv.it.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Errichiello E; Department of Molecular Medicine, University of Pavia, Pavia, Italy. Electronic address: edoardo.errichiello01@universitadipavia.it.; Gorgone C; Speciality School of Medical Genetics, University of Catania, Catania, Italy.; Giuliano L; Department of Medical and Surgical Sciences and Advanced Technologies 'G.F. Ingrassia', University of Catania, Catania, Italy.; Iadarola B; Department of Biotechnologies, University of Verona, Verona, Italy.; Cosentino E; Department of Biotechnologies, University of Verona, Verona, Italy.; Rossato M; Department of Biotechnologies, University of Verona, Verona, Italy.; Kurtas NE; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Delledonne M; Department of Biotechnologies, University of Verona, Verona, Italy.; Mattina T; Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy.; Zuffardi O; Department of Molecular Medicine, University of Pavia, Pavia, Italy.

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