부산대학교 도서관

Vecellio Reane D; Department of Biomedical Sciences, University of Padova, 35131 Padova, Italy.; Cerqua C; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Via Giustiniani 3, 35128 Padova, Italy.; Istituto di Ricerca Pediatrica-IRP, Fondazione Città della Speranza, 35127 Padova, Italy.; Sacconi S; Centre Hospitalier Universitaire de Nice, Peripheral Nervous System and Muscle Department, Rare Neuromuscular Disease Reference Center, ERN-Euro-NMD, Université Côte d'Azur (UCA), 06103 Nice, France.; Salviati L; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Via Giustiniani 3, 35128 Padova, Italy.; Istituto di Ricerca Pediatrica-IRP, Fondazione Città della Speranza, 35127 Padova, Italy.; Myology Center, University of Padova, 35131 Padova, Italy.; Trevisson E; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Via Giustiniani 3, 35128 Padova, Italy.; Istituto di Ricerca Pediatrica-IRP, Fondazione Città della Speranza, 35127 Padova, Italy.; Raffaello A; Department of Biomedical Sciences, University of Padova, 35131 Padova, Italy.; Myology Center, University of Padova, 35131 Padova, Italy.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

Parrozzani R; Department of Ophthalmology, University of Padova, Padova, Italy.; Frizziero L; IRCCS-Fondazione Bietti, Rome, Italy.; Trainiti S; Department of Ophthalmology, University of Padova, Padova, Italy.; Calciati A; Department of Ophthalmology, University of Padova, Padova, Italy.; Londei D; Department of Ophthalmology, University of Padova, Padova, Italy.; Miglionico G; Department of Ophthalmology, University of Padova, Padova, Italy.; Trevisson E; Department of Women's and Children's Health, Clinical Genetics Unit, University of Padova, Padova, Italy ; and.; Midena G; Institute of Ophthalmology, Policlinico Gemelli, IRCCS, Rome, Italy .; Pilotto E; Department of Ophthalmology, University of Padova, Padova, Italy.; Midena E; Department of Ophthalmology, University of Padova, Padova, Italy.; IRCCS-Fondazione Bietti, Rome, Italy.

Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 8309919 Publication Model: Print Cited Medium: Internet ISSN: 1539-2864 (Electronic) Linking ISSN: 0275004X NLM ISO Abbreviation: Retina Subsets: MEDLINE

Reane, D.V.; Raffaello, A.; Cerqua, C.; Salviati, L.; Trevisson, E.; Sacconi, S.

In: International Journal of Molecular Sciences. (International Journal of Molecular Sciences, March-1 2022, 23(5))

Sorrentino U; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, 35128 Padua, Italy.; Bellonzi S; Pediatrics Complex Care Unit, Santa Maria della Misericordia Hospital, 45100 Rovigo, Italy.; Mozzato C; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, 35128 Padua, Italy.; Brasson V; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, 35128 Padua, Italy.; Toldo I; Pediatric Neurology Unit, Department of Women's and Children's Health, University Hospital of Padua, 35128 Padua, Italy.; Parrozzani R; Department of Neuroscience-Ophthalmology, University of Padova, 35128 Padua, Italy.; Clementi M; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, 35128 Padua, Italy.; Cassina M; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, 35128 Padua, Italy.; Trevisson E; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, 35128 Padua, Italy.; Institute of Pediatric Research IRP, 'Fondazione Città della Speranza', 35127 Padua, Italy.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101526829 Publication Model: Electronic Cited Medium: Print ISSN: 2072-6694 (Print) Linking ISSN: 20726694 NLM ISO Abbreviation: Cancers (Basel) Subsets: PubMed not MEDLINE

Sorrentino U; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.; Piccolo C; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.; Rigon C; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.; Brasson V; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.; Trevisson E; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.; Boaretto F; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.; Martini A; Padova University Research Center 'I-APPROVE, International Auditory Processing Project in Venice', 'Santi Giovanni e Paolo' Hospital, 30122 Venice, Italy.; Cassina M; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101644681 Publication Model: Electronic Cited Medium: Print ISSN: 2039-4330 (Print) Linking ISSN: 20394330 NLM ISO Abbreviation: Audiol Res Subsets: PubMed not MEDLINE

Fallerini, C.; Baldassarri, M.; Trevisson, E.; Morbidoni, V.; La Manna, A.; Lazzarin, R.; Pasini, A.; Barbano, G.; Pinciaroli, A. R.; Garosi, G.; Frullanti, E.; Pinto, A. M.; Mencarelli, M. A.; Mari, F.; Renieri, A.; Ariani, F.

CLINICAL GENETICS; JUL 2017, 92 1, p34-p44, 11p.

Morbidoni V; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.; Istituto di Ricerca Pediatrica-IRP, Fondazione Città della Speranza, 35127 Padova, Italy.; Baschiera E; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.; Istituto di Ricerca Pediatrica-IRP, Fondazione Città della Speranza, 35127 Padova, Italy.; Forzan M; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.; Fumini V; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.; Ali DS; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.; Giorgi G; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.; Buson L; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.; Istituto di Ricerca Pediatrica-IRP, Fondazione Città della Speranza, 35127 Padova, Italy.; Desbats MA; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.; Istituto di Ricerca Pediatrica-IRP, Fondazione Città della Speranza, 35127 Padova, Italy.; Cassina M; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.; Clementi M; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.; Salviati L; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.; Istituto di Ricerca Pediatrica-IRP, Fondazione Città della Speranza, 35127 Padova, Italy.; Trevisson E; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.; Istituto di Ricerca Pediatrica-IRP, Fondazione Città della Speranza, 35127 Padova, Italy.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101526829 Publication Model: Electronic Cited Medium: Print ISSN: 2072-6694 (Print) Linking ISSN: 20726694 NLM ISO Abbreviation: Cancers (Basel) Subsets: PubMed not MEDLINE

Alcázar-Fabra M; Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC-JA and CIBERER, Instituto de Salud Carlos III, Seville, 41013, Spain.; Rodríguez-Sánchez F; Departamento de Biología Vegetal y Ecología, Universidad de Sevilla, Seville, 41012, Spain.; Trevisson E; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova, 35128, Italy; Istituto di Ricerca Pediatrica, Fondazione Città della Speranza, Padova, 35128, Italy. Electronic address: eva.trevisson@unipd.it.; Brea-Calvo G; Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC-JA and CIBERER, Instituto de Salud Carlos III, Seville, 41013, Spain. Electronic address: gbrecal@upo.es.

Publisher: Elsevier Science Country of Publication: United States NLM ID: 8709159 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-4596 (Electronic) Linking ISSN: 08915849 NLM ISO Abbreviation: Free Radic Biol Med Subsets: MEDLINE

Legius, E.; Messiaen, L.; Korf, B.R.; Gomes, A.; Wolkenstein, P.; Pancza, P.; Avery, R.A.; Berman, Y.; Blakeley, J.; Babovic-Vuksanovic, D.; Cunha, K.S.; Ferner, R.; Fisher, M.J.; Friedman, J.M.; Gutmann, D.H.; Kehrer-Sawatzki, H.; Mautner, V.-F.; Mautner, V.; Peltonen, S.; Rauen, K.A.; Riccardi, V.; Schorry, E.; Stemmer-Rachamimov, A.; Stevenson, D.A.; Tadini, G.; Ullrich, N.J.; Viskochil, D.; Wimmer, K.; Yohay, K.; Huson, S.M.; Smith, M.J.; Evans, D.G.; Jordan, J.T.; Merker, V.L.; Plotkin, S.R.; Anten, M.; Aylsworth, A.; Baralle, D.; Barbarot, S.; Barker, F.; Ben-Shachar, S.; Bergner, A.; Bessis, D.; Blanco, I.; Cassiman, C.; Ciavarelli, P.; Clementi, M.; Trevisson, E.; Frébourg, T.; Giovannini, M.; Halliday, D.; Hammond, C.; Hanemann, C.O.; Hanson, H.; Heiberg, A.; Joly, P.; Kalamarides, M.; Karajannis, M.; Kroshinsky, D.; Larralde, M.; Lázaro, C.; Le, L.; Link, M.; Listernick, R.; MacCollin, M.; Mallucci, C.; Moertel, C.; Mueller, A.; Ngeow, J.; Oostenbrink, R.; Packer, R.; Papi, L.; Parry, A.; Peltonen, J.; Pichard, D.; Poppe, B.; Rezende, N.; Rodrigues, L.O.; Rosser, T.; Ruggieri, M.; Serra, E.; Steinke-Lange, V.; Stivaros, S.M.; Taylor, A.; Toelen, J.; Tonsgard, J.; Upadhyaya, M.; Varan, A.; Wilson, M.; Wu, H.; Zadeh, G.

In: Genetics in Medicine. (Genetics in Medicine, August 2021, 23(8):1506-1513)

Koczkowska M; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.; Callens T; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.; Chen Y; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.; Gomes A; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.; Hicks AD; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.; Sharp A; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.; Johns E; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.; Uhas KA; Children's Healthcare of Atlanta at Scottish Rite, Atlanta, Georgia.; Armstrong L; Department of Medical Genetics, BC Women's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.; Bosanko KA; Division of Clinical Genetics and Metabolism, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, Arkansas.; Babovic-Vuksanovic D; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.; Baker L; Division of Medical Genetics, Al DuPont Hospital for Children, Wilmington, Delaware.; Basel DG; Children's Hospital of Wisconsin, Milwaukee, Wisconsin.; Bengala M; U.O.C Laboratorio di Genetica Medica, Dipartimento di Oncoematologia, Fondazione Policlinico di Tor Vergata, Rome, Italy.; Bennett JT; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.; Chambers C; Department of Neurology, University of Virginia Medical Center, Charlottesville, Virginia.; Clarkson LK; Greenwood Genetic Center, Greenwood, South Carolina.; Clementi M; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy.; Cortés FM; Center for Rare Diseases, Clinica Las Condes, Santiago, Chile.; Cunningham M; Division of Genetic, Genomic, and Metabolic Disorders, Detroit Medical Center, Children's Hospital of Michigan, Detroit, Michigan.; D'Agostino MD; Division of Medical Genetics, McGill University Health Centre, Montréal, Quebec, Canada.; Delatycki MB; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.; Digilio MC; Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Dosa L; SOC Genetica Medica, AOU Meyer, Florence, Italy.; Esposito S; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Fox S; Division of Medical Genetics, McGill University Health Centre, Montréal, Quebec, Canada.; Freckmann ML; Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, New South Wales, Australia.; Fauth C; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.; Giugliano T; Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; Giustini S; Department of Dermatology and Venereology, Policlinico Umberto I, Sapienza University of Rome, Rome, Italy.; Goetsch A; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois.; Goldberg Y; The Raphael Recanati Genetics Institute, Rabin Medical Center, Petah Tikva, Israel.; Greenwood RS; Division of Child Neurology, University of North Carolina School of Medicine, Chapel Hill, North Carolina.; Griffis C; Children's Hospital of Wisconsin, Milwaukee, Wisconsin.; Gripp KW; Division of Medical Genetics, Al DuPont Hospital for Children, Wilmington, Delaware.; Gupta P; Neurofibromatosis Diagnostic and Treatment Program, St. Joseph's Children's Hospital, Paterson, New Jersey.; Haan E; Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, South Australia, Australia.; Hachen RK; Neurofibromatosis Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Haygarth TL; Carolinas HealthCare System, Levine Children's Specialty Center, Charlotte, North Carolina.; Hernández-Chico C; Department of Genetics, Hospital Universitario Ramón y Cajal, Institute of Health Research (IRYCIS) and Center for Biomedical Research-Network of Rare Diseases (CIBERER), Madrid, Spain.; Hodge K; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.; Hopkin RJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.; Hudgins L; Division of Medical Genetics, Stanford University School of Medicine, Stanford, California.; Janssens S; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Keller K; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon.; Kelly-Mancuso G; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.; Kochhar A; Department of Medical Genetics and Metabolism, Valley Children's Healthcare, Madera, California.; Korf BR; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.; Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Liebelt J; The South Australian Clinical Genetics Service at the Women's and Children's Hospital, North Adelaide, South Australia, Australia.; Lichty A; Greenwood Genetic Center, Greenwood, South Carolina.; Listernick RH; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois.; Lyons MJ; Greenwood Genetic Center, Greenwood, South Carolina.; Maystadt I; Center for Human Genetics, Institute of Pathology and Genetics (IPG), Gosselies, Belgium.; Martinez Ojeda M; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.; McDougall C; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania.; McGregor LK; The South Australian Clinical Genetics Service at the Women's and Children's Hospital, North Adelaide, South Australia, Australia.; Melis D; Section of Pediatrics, Department of Translational Medical Sciences, Federico II University, Naples, Italy.; Mendelsohn N; Genomics Medicine Program, Children's Hospital Minnesota, Minneapolis, Minnesota.; Nowaczyk MJM; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.; Ortenberg J; Division of Medical Genetics, McGill University Health Centre, Montréal, Quebec, Canada.; Panzer K; University of Iowa Stead Family Children's Hospital, Iowa City, Iowa.; Pappas JG; Division of Clinical Genetic Services, Department of Pediatrics, NYU School of Medicine, New York, New York.; Pierpont ME; Department of Pediatrics and Opthalmology, University of Minnesota, Minneapolis, Minnesota.; Piluso G; Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; Pinna V; Molecular Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.; Pivnick EK; Department of Pediatrics and Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, Tennessee.; Pond DA; Genomics Medicine Program, Children's Hospital Minnesota, Minneapolis, Minnesota.; Powell CM; Department of Genetics and Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina.; Rogers C; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon.; Ruhrman Shahar N; The Raphael Recanati Genetics Institute, Rabin Medical Center, Petah Tikva, Israel.; Rutledge SL; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.; Saletti V; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Sandaradura SA; Division of Clinical Genetics, Department of Paediatrics and Child Health, Children's Hospital at Westmead, University of Sydney, Sydney, New South Wales, Australia.; Santoro C; Specialistic and General Surgery Unit, Department of Woman and Child, Referral Centre of Neurofibromatosis, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; Schatz UA; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.; Schreiber A; Cleveland Clinic, Genomic Medicine Institute, Cleveland, Ohio.; Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Sellars EA; Division of Clinical Genetics and Metabolism, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, Arkansas.; Sheffer R; Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.; Siqveland E; Genomics Medicine Program, Children's Hospital Minnesota, Minneapolis, Minnesota.; Slopis JM; Department of Neuro-Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas.; Smith R; Division of Genetics, Department of Pediatrics, Maine Medical Center, Portland, Maine.; Spalice A; Child Neurology Division, Department of Pediatrics, Sapienza University of Rome, Rome, Italy.; Stockton DW; Division of Genetic, Genomic, and Metabolic Disorders, Detroit Medical Center, Children's Hospital of Michigan, Detroit, Michigan.; Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Theos A; Department of Dermatology, University of Alabama at Birmingham, Birmingham, Alabama.; Tomlinson GE; Division of Pediatric Hematology-Oncology, Greehey Children's Cancer Research Institute, The University of Texas Health Science Center, San Antonio, Texas.; Tran G; Department of Clinical Cancer Genetics, The University of Texas MD Anderson Cancer Center, Houston, Texas.; Trapane PL; Division of Pediatric Genetics, Department of Pediatrics, University of Florida College of Medicine, Jacksonville, Florida.; Trevisson E; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy.; Ullrich NJ; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Van den Ende J; Center for Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.; Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, Virginia.; Wallace SE; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.; Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Weaver DD; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.; Yohay KH; Department of Neurology, New York University School of Medicine, Langone Medical Center, New York, New York.; Zackai E; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania.; Zonana J; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon.; Zurcher V; Cleveland Clinic, Genomic Medicine Institute, Cleveland, Ohio.; Claes KBM; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Eoli M; Division of Molecular Neuro-Oncology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Martin Y; Department of Genetics, Hospital Universitario Ramón y Cajal, Institute of Health Research (IRYCIS) and Center for Biomedical Research-Network of Rare Diseases (CIBERER), Madrid, Spain.; Wimmer K; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.; De Luca A; Molecular Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.; Legius E; Department of Human Genetics, KU Leuven, Leuven, Belgium.; Messiaen LM; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.

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