부산대학교 도서관

van der Laan L; Department of Human Genetics, Amsterdam UMC, Amsterdam, Netherlands.; Amsterdam Reproduction & Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands.; Haagmans MA; Department of Human Genetics, Amsterdam UMC, Amsterdam, Netherlands.; Amsterdam Reproduction & Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands.; Venema A; Department of Human Genetics, Amsterdam UMC, Amsterdam, Netherlands.; Amsterdam Reproduction & Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands.; Kerkhof J; London Health Science Centre, Verspeeten Clinical Genome Centre, London, ON, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.; Levy MA; London Health Science Centre, Verspeeten Clinical Genome Centre, London, ON, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.; Briuglia S; Department of Biomedical and Dental Sciences and Morphofunctional Imaging, University of Messina, Messina, Italy.; Caro P; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Sailer S; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Schaaf CP; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Sadikovic B; London Health Science Centre, Verspeeten Clinical Genome Centre, London, ON, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.; van Haelst MM; Department of Human Genetics, Amsterdam UMC, Amsterdam, Netherlands.; Amsterdam Reproduction & Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands.; van Gijn M; Department of Human Genetics, Amsterdam UMC, Amsterdam, Netherlands.; Amsterdam Reproduction & Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands.; Alders M; Department of Human Genetics, Amsterdam UMC, Amsterdam, Netherlands.; Amsterdam Reproduction & Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands.; Henneman P; Department of Human Genetics, Amsterdam UMC, Amsterdam, Netherlands.; Amsterdam Reproduction & Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands.

Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

L. Pollara; E. de Gregorio; V. Buonofiglio; L. Bianca; T. Stellato; M. Brusa; E. De Gasperi; A. Ardissone; G. Zanni; R. Battini; S. Briuglia; V. Sottile; E.M. Valente

Stem Cell Research, Vol 86, Iss , Pp 103734- (2025)

Speranza D; Department of Chemical, Biological, Pharmaceutical and Environmental Sciences, University of Messina, 98125 Messina, Italy.; Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, Italy.; Marafioti M; School of Specialization in Medical Oncology, Department of Human Pathology 'G. Barresi', University of Messina, 98125 Messina, Italy.; Medical Oncology Unit, Department of Human Pathology 'G. Barresi', University of Messina, 98125 Messina, Italy.; Musarra M; School of Specialization in Medical Oncology, Department of Human Pathology 'G. Barresi', University of Messina, 98125 Messina, Italy.; Medical Oncology Unit, Department of Human Pathology 'G. Barresi', University of Messina, 98125 Messina, Italy.; Cianci V; Department of Biomedical and Dental Sciences and Morphofunctional Imaging, University of Messina, 98125 Messina, Italy.; Mondello C; Department of Biomedical and Dental Sciences and Morphofunctional Imaging, University of Messina, 98125 Messina, Italy.; Astorino MF; Department of Biomedical and Dental Sciences and Morphofunctional Imaging, University of Messina, 98125 Messina, Italy.; Santarpia M; Medical Oncology Unit, Department of Human Pathology 'G. Barresi', University of Messina, 98125 Messina, Italy.; Irrera N; Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, Italy.; Vaccaro M; Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, Italy.; Silvestris N; Medical Oncology Department, IRCCS Istituto Tumori 'Giovanni Paolo II', 70124 Bari, Italy.; Crisafulli C; Department of Biomedical and Dental Sciences and Morphofunctional Imaging, University of Messina, 98125 Messina, Italy.; Calabrò M; Department of Biomedical and Dental Sciences and Morphofunctional Imaging, University of Messina, 98125 Messina, Italy.; Briuglia S; Department of Biomedical and Dental Sciences and Morphofunctional Imaging, University of Messina, 98125 Messina, Italy.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Astorino MF; Department of Biomedical and Dental Sciences and Morpho-Functional Imaging-BIOMORF, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.; Speranza D; Department of Chemical, Biological, Pharmaceutical and Environmental Sciences, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.; Luppino G; Department of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.; La Rosa MA; UOSD of Genetics and Pharmacogenetics, 'Gaetano Martino' University Hospital, Via Consolare Valeria, 98125 Messina, Italy.; Briuglia S; Department of Biomedical and Dental Sciences and Morpho-Functional Imaging-BIOMORF, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.; UOSD of Genetics and Pharmacogenetics, 'Gaetano Martino' University Hospital, Via Consolare Valeria, 98125 Messina, Italy.; Calabrò M; Department of Biomedical and Dental Sciences and Morpho-Functional Imaging-BIOMORF, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.; UOSD of Genetics and Pharmacogenetics, 'Gaetano Martino' University Hospital, Via Consolare Valeria, 98125 Messina, Italy.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Luppino G; Department of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria1, 98125 Messina, Italy.; Wasniewska M; Department of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria1, 98125 Messina, Italy.; Pepe G; Department of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria1, 98125 Messina, Italy.; Morabito LA; Pediatric Unit, AOU Policlinico G. Martino, Via Consolare Valeria 1, 98125 Messina, Italy.; Briuglia S; Department of Biomedical, Dental, Morphological and Functional Imaging Sciences, University of Messina, 98100 Messina, Italy.; Moschella A; UOSD Genetica Medica, Grande Ospedale Metropolitano 'Bianchi-Melacrino-Morelli', 89100 Reggio Calabria, Italy.; Franchina F; Department of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria1, 98125 Messina, Italy.; Lugarà C; Department of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria1, 98125 Messina, Italy.; Aversa T; Department of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria1, 98125 Messina, Italy.; Corica D; Department of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria1, 98125 Messina, Italy.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

De Falco A; Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy.; Genomics and Experimental Medicine Program, Scuola Superiore Meridionale (SSM, School of Advanced Studies), Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Vincent M; Service de génétique, CHU Nantes, Nantes, France.; Nantes Université, CNRS, INSERM, L'institut du Thorax, Nantes, France.; Vieville G; Service de Génétique, Génomique et Procréation, Hôpital Couple-Enfant, CHU Grenoble Alpes, Université Grenoble-Alpes, La Tronche, France.; Gauthier M; Service de Génétique, Génomique et Procréation, Hôpital Couple-Enfant, CHU Grenoble Alpes, Université Grenoble-Alpes, La Tronche, France.; Dieterich K; Service de Génétique, Génomique et Procréation, Hôpital Couple-Enfant, CHU Grenoble Alpes, Université Grenoble-Alpes, La Tronche, France.; Univ. Grenoble Alpes, Inserm, U1209, CHU Grenoble Alpes, Grenoble, France.; Coutton C; Service de Génétique, Génomique et Procréation, Hôpital Couple-Enfant, CHU Grenoble Alpes, Université Grenoble-Alpes, La Tronche, France.; Univ. Grenoble Alpes, Inserm, U1209, CHU Grenoble Alpes, Grenoble, France.; Loddo S; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Novelli A; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; UniCamillus - Saint Camillus International University of Health Sciences, Rome, Italy.; Dallapiccola B; Medical Genetics Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Digilio MC; Medical Genetics Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Briuglia S; Department of Biomedical, Dental, Morphological and Functional Imaging Sciences, University of Messina, Messina, Italy.; Bernardini L; Cytogenetics Unit, Casa Sollievo Della Sofferenza Foundation, IRCCS, San Giovanni Rotondo, Foggia, Italy.; Fontana P; Medical Genetics Unit, A.O.R.N. San Pio, Benevento, Italy.; Madej-Pilarczyk A; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Młynek M; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; De Falco L; AMES, Centro Polidiagnostico Strumentale SRL, Napoli, Italy.; Acquaviva F; Medical Genetics Unit, Department of General and Emergency Paediatrics, AORN Santobono-Pausilipon, Naples, Italy.; De Brasi D; Medical Genetics Unit, Department of General and Emergency Paediatrics, AORN Santobono-Pausilipon, Naples, Italy.; Faivre L; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Dijon, France.; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Fédération Hospitalo-Universitaire TRANSLAD et Institut GIMI, Dijon Bourgogne University Hospital, Dijon, France.; Dauver L; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Dijon, France.; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Fédération Hospitalo-Universitaire TRANSLAD et Institut GIMI, Dijon Bourgogne University Hospital, Dijon, France.; Alnuaimi N; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Dijon, France.; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Fédération Hospitalo-Universitaire TRANSLAD et Institut GIMI, Dijon Bourgogne University Hospital, Dijon, France.; Callier P; Laboratoire de Cytogénétique, CHU Dijon, Dijon, France.; Trevisan V; Genomic Medicine Section, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy.; Center for Rare Diseases, Department of Human and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.; Medical Genetics Unit, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome, Italy.; Onesimo R; Center for Rare Diseases, Department of Human and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.; Pediatric Unit, IRCCS Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy.; Leoni C; Pediatric Unit, IRCCS Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy.; Zampino G; Center for Rare Diseases, Department of Human and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.; Medical Genetics Unit, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome, Italy.; Neri G; Genomic Medicine Section, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy.; Delplancq G; Constitutional Genetics Unit, Versailles Hospital, Le Chesnay, France.; Perrin L; Medical Genetics Unit, Robert Debré Hospital; APHP, Paris, France.; White SM; Victorian Clinical Genetics Service, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Murdoch Children's Research Institute, Melbourne, Australia.; Guerrini R; Pediatric Neurology, Department of Neuroscience and Medical Genetics, Meyer Children's Hospital IRCCS, Florence, Italy.; Neurofarba Department, University of Florence, Florence, Italy.; Mei D; Pediatric Neurology, Department of Neuroscience and Medical Genetics, Meyer Children's Hospital IRCCS, Florence, Italy.; Sani I; Medical Genetics, Department of Neuroscience and Medical Genetics, Meyer Children's Hospital IRCCS, Florence, Italy.; Pantaleo M; Medical Genetics, Department of Neuroscience and Medical Genetics, Meyer Children's Hospital IRCCS, Florence, Italy.; Peron A; Medical Genetics, Department of Neuroscience and Medical Genetics, Meyer Children's Hospital IRCCS, Florence, Italy.; Department of Experimental and Clinical Biomedical Sciences Mario Serio, University of Florence, Florence, Italy.; Brunetti-Pierri N; Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy.; Genomics and Experimental Medicine Program, Scuola Superiore Meridionale (SSM, School of Advanced Studies), Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Moschella A.; Capra A. P.; Corica D.; Pepe G.; Di Tommaso S.; Sallicandro E.; Wasniewska M. G.; Briuglia S.; Aversa T.

BMC Med Genomics
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-7 (2023)

Capra A. P.; Chiara E.; Briuglia S.

World J Hepatol

Piceci-Sparascio F.; Palencia-Campos A.; Soto-Bielicka P.; D'Anzi A.; Guida V.; Rosati J.; Caparros-Martin J. A.; Torrente I.; D'Asdia M. C.; Versacci P.; Briuglia S.; Lapunzina P.; Tartaglia M.; Marino B.; Digilio M. C.; Ruiz-Perez V. L.; De Luca A.

Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
instname

Astorino MF; Department of Biomedical and Dental Sciences and Morpho-Functional Imaging, University of Messina, Messina, Italy.; Calabrò M; IRCSS Centro Neurolesi Bonino-Puleio, Messina, Italy.; Infortuna C; Department of Biomedical and Dental Sciences and Morpho-Functional Imaging, University of Messina, Messina, Italy.; Muscatello MRA; Department of Biomedical and Dental Sciences and Morpho-Functional Imaging, University of Messina, Messina, Italy.; Briuglia S; Department of Biomedical and Dental Sciences and Morpho-Functional Imaging, University of Messina, Messina, Italy.; Cicero N; Department of Biomedical and Dental Sciences and Morpho-Functional Imaging, University of Messina, Messina, Italy.; Fabbri C; Department of Biomedical and NeuroMotor Sciences, University of Bologna, Bologna, Italy.; Serretti A; Department of Medicine and Surgery, Kore University of Enna, Enna, Italy.; Crisafulli C; Department of Biomedical and Dental Sciences and Morpho-Functional Imaging, University of Messina, Messina, Italy.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235742 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-485X (Electronic) Linking ISSN: 15524841 NLM ISO Abbreviation: Am J Med Genet B Neuropsychiatr Genet Subsets: MEDLINE

Sippelli F; Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy.; Briuglia S; Department of Biomedical and Dental Sciences and Morphofunctional Imaging, University of Messina, Messina, Italy.; Ferraloro C; Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy.; Capra AP; Department of Chemical, Biological, Pharmaceutical, and Environmental Sciences, University of Messina, Messina, Italy.; Agolini E; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Abbate T; Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy.; Pepe G; Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy.; Aversa T; Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy.; Wasniewska M; Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy.; Corica D; Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy. coricadomenico@hotmail.com.

Publisher: BioMed Central Country of Publication: England NLM ID: 100967804 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2431 (Electronic) Linking ISSN: 14712431 NLM ISO Abbreviation: BMC Pediatr Subsets: MEDLINE

Travaglini L; Brancati F; Attie Bitach T; Audollent S; Bertini E; Kaplan J; Perrault I; Iannicelli M; Mancuso B; Rigoli L; Rozet JM; Swistun D; Tolentino J; Dallapiccola B; Gleeson JG; Valente EM; International JSRD Study Group; Zankl A; Leventer R; Grattan Smith P; Janecke A; D'Hooghe M; Sznajer Y; Van Coster R; Demerleir L; Dias K; Moco C; Moreira A; Kim CA; Maegawa G; Petkovic D; Abdel Salam GM; Abdel Aleem A; Zaki MS; Marti I; Quijano Roy S; Sigaudy S; de Lonlay P; Romano S; Touraine R; Koenig M; Lagier Tourenne C; Messer J; Collignon P; Wolf N; Philippi H; Kitsiou Tzeli S; Halldorsson S; Johannsdottir J; Ludvigsson P; Phadke SR; Udani V; Stuart B; Magee A; Lev D; Michelson M; Ben Zeev B; Fischetto R; Benedicenti F; Stanzial F; Borgatti R; Accorsi P; Battaglia S; Fazzi E; Giordano L; Pinelli L; Boccone L; Bigoni S; FERLINI, Alessandra; Donati MA; Caridi G; Divizia MT; Faravelli F; Ghiggeri G; Pessagno A; Briguglio M; Briuglia S; Salpietro CD; Tortorella G; Adami A; Castorina P; Lalatta F; Marra G; Riva D; Scelsa B; Spaccini L; Uziel G; Del Giudice E; Laverda AM; Ludwig K; Permunian A; Suppiej A; Signorini S; Uggetti C; Battini R; Di Giacomo M; Cilio MR; Di Sabato ML; Leuzzi V; Parisi P; Pollazzon M; Silengo M; De Vescovi R; Greco D; Romano C; Cazzagon M; Simonati A; Al Tawari AA; Bastaki L; Mégarbané A; Sabolic Avramovska V; de Jong MM; Stromme P; Koul R; Rajab A; Azam M; Barbot C; Martorell Sampol L; Rodriguez B; Pascual Castroviejo I; Teber S; Anlar B; Comu S; Karaca E; Kayserili H; Yüksel A; Akcakus M; Al Gazali L; Sztriha L; Nicholl D; Woods CG; Bennett C; Hurst J; Sheridan E; Barnicoat A; Hennekam R; Lees M; Blair E; Bernes S; Sanchez H; Clark AE; DeMarco E; Donahue C; Sherr E; Hahn J; Sanger TD; Gallager TE; Dobyns WB; Daugherty C; Krishnamoorthy KS; Sarco D; Walsh CA; McKanna T; Milisa J; Chung WK; De Vivo DC; Raynes H; Schubert R; Seward A; Brooks DG; Goldstein A; Caldwell J; Finsecke E; Maria BL; Holden K; Cruse RP; Swoboda KJ; Viskochil D.; SUPPIEJ, Agnese

International JSRD Study Group 2009, 'Expanding CEP290 mutational spectrumin ciliopathies', American Journal of Medical Genetics, Part A, vol. 149, no. 10, pp. 2173-2180. https://doi.org/10.1002/ajmg.a.33025

Brancati, F.; Travaglini, L.; Zablocka, D.; Boltshauser, E.; Accorsi, P.; Montagna, G.; Silhavy, J. L.; Barrano, G.; Bertini, E.; Emma, F.; Rigoli, L.; Leventer, Richard; Grattan Smith, Padraic; Janecke, Andreas; D'Hooghe, Marc; Van Coster, Rudy; Dias, Karin; Moco, Carla; Moreira, Ana; Kim, Chong Ae; Maegawa, Gustavo; Abdel Salam, Ghada M. H.; Abdel Aleem, Alice; Zaki, Maha S.; Marti, Itxaso; Quijano Roy, Susana; de Lonlay, Pascale; Romano, Stephane; Verloes, Alain; Touraine, Renaud; Koenig, Michel; Lagier Tourenne, Clotilde; Messer, Jean; Philippi, Heike; Tzeli, Sofia Kitsiou; Halldorsson, Saevar; Johannsdottir, Jonina; Ludvigsson, Peter; Phadke, Shubha R.; Stuart, Bernard; Magee, Alex; Lev, Dorit; Michelson, Marina; Ben Zeev, Bruria; Fischetto, Rita; Gentile, Mattia; Battaglia, Silvia; Giordano, Lucio; Pinelli, Lorenzo; Boccone, Loredana; Ruggieri, Martino; Bigoni, Stefania; Ferlini, Alessandra; Donati, Maria Alice; Procopio, Elena; Caridi, Gianluca; Faravelli, Francesca; Ghiggeri, Gianmarco; BRIUGLIA, Silvana; SALPIETRO DAMIANO, Carmelo; Tortorella, Gaetano; D'Arrigo, Stefano; Pantaleoni, Chiara; Riva, Daria; Uziel, Graziella; Laverda, Anna Maria; Permunian, Alberto; Bova, Stefania; Battini, Roberta; Cilio, Maria Roberta; Di Sabato, Marilu; Leuzzi, Vincenzo; Parisi, Pasquale; Simonati, Alessandro; Al Tawari, Asma A.; Bastaki, Laila; Ahmad, Null; de Jong, Mirjam M.; Koul, Roshan; Rajab, Anna; Azam, Matloob; Barbot, Clara; Rodriguez, Berta; Pascual Castroviejo, Ignacio; Kayserili, Hulya; Comu, Sinan; Akcakus, Mustafa; Al Gazali, Lihadh; Sztriha, Laszlo; Nicholl, David; Woods, C. Geoffrey; Bennett, Christopher; Hurst, Jane; Hennekam, Raoul; Lees, Melissa; Bernes, Saunder; Sanchez, Henry; Clark, Aldon E.; Demarco, Elysa; Donahue, Clement; Hahn, Jin; Sanger, Terence D.; Gallager, Tomas E.; Dobyns, William B.; Daugherty, Cynthia; Krishnamoorthy, Kalpathy S.; Sarco, Dean; Walsh, Christopher A.; Mckanna, Trudy; Milisa, Joanne; Chung, Wendy K.; De Vivo, Darryl C.; Raynes, Hillary; Schubert, Romaine; Seward, Alison; Brooks, David G.; Goldstein, Amy; Caldwell, James; Finsecke, Eco; Maria, Bernard L.; Holden, Kenton; Cruse, Robert P.; Swoboda, Kathryn J.; Viskochil, Dave; Dallapiccola, B.; Gleeson, J. G.; Valente, Enza Maria

Clinical Genetics. 74:164-170

Lorena, Travaglini; Francesco, Brancati; Jennifer, Silhavy; Miriam, Iannicelli; Elizabeth, Nickerson; Nadia, Elkhartoufi; Eric, Scott; Emily, Spencer; Stacey, Gabriel; Sophie, Thomas; Bruria, Ben Zeev; Enrico, Bertini; Eugen, Boltshauser; Malika, Chaouch; Maria, Roberta Cilio; Mirjam, M. de Jong; Hulya, Kayserili; Gonul, Ogur; Andrea, Poretti; Sabrina, Signorini; Graziella, Uziel; Maha, S. Zaki; Ali Pacha L; Zankl A; Leventer R; Grattan Smith P; Janecke A; Koch J; Freilinger M; D'Hooghe M; Sznajer Y; Vilain C; Van Coster R; Demerleir L; Dias K; Moco C; Moreira A; Ae Kim C; Maegawa G; Dakovic I; Loncarevic D; Mejaski Bosnjak V; Petkovic D; Abdel Salam GM; Abdel Aleem A; Marti I; Pinard JM; Quijano Roy S; Sigaudy S; de Lonlay P; Romano S; Verloes A; Touraine R; Koenig M; Dollfus H; Flori E; Fradin M; Lagier Tourenne C; Messer J; Collignon P; Penzien JM; Bussmann C; Merkenschlager A; Philippi H; Kurlemann G; Grundmann K; Dacou Voutetakis C; Kitsiou Tzeli S; Pons R; Jerney J; Halldorsson S; Johannsdottir J; Ludvigsson P; Phadke SR; Girisha KM; Doshi H; Udani V; Kaul M; Stuart B; Magee A; Spiegel R; Shalev S; Mandel H; Lev D; Michelson M; Idit M; Ben Zeev B; Gershoni Baruch R; Ficcadenti A; Fischetto R; Gentile M; Della Monica M; Pezzani M; Graziano C; Seri M; Benedicenti F; Stanzial F; Borgatti R; Romaniello R; Accorsi P; Battaglia S; Fazzi E; Giordano L; Pinelli L; Boccone L; Barone R; Sorge G; Briatore E; Bigoni S; Ferlini A; Donati MA; Biancheri R; Caridi G; Divizia MT; Faravelli F; Ghiggeri G; Mirabelli M; Pessagno A; Rossi A; Uliana V; Amorini M; Briguglio M; Briuglia S; Salpietro CD; Tortorella G; Adami A; Bonati MT; Castorina P; D'Arrigo S; Lalatta F; Marra G; Moroni I; Pantaleoni C; Riva D; Scelsa B; Spaccini L; Del Giudice E; Ludwig K; Permunian A; Suppiej A; Macaluso C; Pichiecchio A; Battini R; Di Giacomo M; Priolo M; Timpani P; Pagani G; Di Sabato ML; Emma F; Leuzzi V; Mancini F; Majore S; Micalizzi A; Parisi P; Romani M; Stringini G; Zanni G; Ulgheri L; Pollazzon, M; RENIERI, ALESSANDRA; Belligni E; Grosso E; Pieri I; Silengo M; Devescovi R; Greco D; Romano C; Cazzagon M; Simonati A; Al Tawari AA; Bastaki L; Mégarbané A; Sabolic Avramovska V; Said E; Stromme P; Koul R; Rajab A; Azam M; Barbot C; Salih MA; Tabarki B; Jocic Jakubi B; Martorell Sampol L; Rodriguez B; Pascual Castroviejo I; Gener B; Puschmann A; Starck L; Capone A; Lemke J; Fluss J; Niedrist D; Hennekam RC; Wolf N; Gouider Khouja N; Kraoua I; Ceylaner S; Teber S; Akgul M; Anlar B; Comu S; Kayserili H; Yüksel A; Akcakus M; Caglayan AO; Aldemir O; Al Gazali L; Sztriha L; Nicholl D; Woods CG; Bennett C; Hurst J; Sheridan E; Barnicoat A; Hemingway C; Lees M; Wakeling E; Blair E; Bernes S; Sanchez H; Clark AE; DeMarco E; Donahue C; Sherr E; Hahn J; Sanger TD; Gallager TE; Daugherty C; Krishnamoorthy KS; Sarco D; Walsh CA; McKanna T; Milisa J; Chung WK; De Vivo DC; Raynes H; Schubert R; Seward A; Brooks DG; Goldstein A; Caldwell J; Finsecke E; Maria BL; Holden K; Cruse RP; Karaca E; Swoboda KJ; Viskochil D; Dobyns WB; Colin, Johnson; Tania, Attié Bitach; Joseph, G. Gleeson; Enza, Maria Valente

European Journal of Human Genetics
International JSRD Study Group 2013, 'Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders', European Journal of Human Genetics, vol. 21, no. 10, pp. 1074-1078. https://doi.org/10.1038/ejhg.2012.305
European Journal of Human Genetics, Vol. 21, No 10 (2013) pp. 1074-8
Eur J Hum Genet

Brancati, Francesco; Iannicelli, Miriam; Travaglini, Lorena; Mazzotta, Annalisa; Bertini, Enrico; Boltshauser, Eugen; D’Arrigo, Stefano; Emma, Francesco; Fazzi, Elisa; Gallizzi, Romina; Gentile, Mattia; Loncarevic, Damir; Mejaski-Bosnjak, Vlatka; Pantaleoni, Chiara; Rigoli, Luciana; Salpietro, Carmelo D.; Signorini, Sabrina; Stringini, Gilda Rita; Verloes, Alain; Zabloka, Dominika; Dallapiccola, Bruno; Gleeson, Joseph G.; Valente, Enza Maria; Zankl, A.; Leventer, R.; Smith, P. Grattan; Janecke, A.; D’Hooghe, M.; Sznajer, Y.; Van Coster, R.; Demerleir, L.; Dias, K.; Moco, C.; Moreira, A.; Ae Kim, C.; Maegawa, G.; Petkovic, D.; Abdel-Salam, G. M.H.; Abdel-Aleem, A.; Zaki, M. S.; Marti, I.; Quijano-Roy, S.; Sigaudy, S.; De Lonlay, P.; Romano, S.; Touraine, R.; Koenig, M.; Lagier-Tourenne, C.; Messer, J.; Collignon, P.; Wolf, N.; Philippi, H.; Tzeli, S. Kitsiou; Halldorsson, S.; Johannsdottir, J.; Ludvigsson, P.; Phadke, S. R.; Udani, V.; Stuart, B.; Magee, A.; Lev, D.; Michelson, M.; Ben-Zeev, B.; Fischetto, R.; Benedicenti, F.; Stanzial, F.; Borgatti, R.; Accorsi, P.; Battaglia, S.; Giordano, L.; Pinelli, L.; Boccone, L.; Bigoni, S.; Ferlini, A.; Donati, M. A.; Caridi, G.; Divizia, M. T.; Faravelli, F.; Ghiggeri, G.; Pessagno, A.; Briuglia, S.; Tortorella, G.; Adami, A.; Castorina, P.; Lalatta, F.; Marra, G.; Riva, D.; Scelsa, B.; Spaccini, L.; Uziel, G.; Giudice, E. Del; Laverda, A. M.; Ludwig, K.; Permunian, A.; Suppiej, A.; Uggetti, C.; Battini, R.; Giacomo, M. Di; Cilio, M. R.; Di Sabato, M. L.; Leuzzi, V.; Parisi, P.; Pollazzon, M.; Silengo, M.; De Vescovi, R.; Greco, D.; Romano, C.; Cazzagon, M.; Simonati, A.; Al-Tawari, A. A.; Bastaki, L.; Mégarbané, A.; Sabolic Avramovska, V.; De Jong, M. M.; Stromme, P.; Koul, R.; Rajab, A.; Azam, M.; Barbot, C.; Martorell Sampol, L.; Rodriguez, B.; Pascual-Castroviejo, I.; Teber, S.; Anlar, B.; Comu, S.; Karaca, E.; Kayserili, H.; Yüksel, A.; Akcakus, M.; Gazali, L. Al; Sztriha, L.; Nicholl, D.; Woods, C. G.; Bennett, C.; Hurst, J.; Sheridan, E.; Barnicoat, A.; Hennekam, R.; Lees, M.; Blair, E.; Bernes, S.; Sanchez, H.; Clark, A. E.; Demarco, E.; Donahue, C.; Sherr, E.; Hahn, J.; Sanger, T. D.; Gallager, T. E.; Dobyns, W. B.; Daugherty, C.; Krishnamoorthy, K. S.; Sarco, D.; Walsh, C. A.; McKanna, T.; Milisa, J.; Chung, W. K.; De Vivo, D. C.; Raynes, H.; Schubert, R.; Seward, A.; Brooks, D. G.; Goldstein, A.; Caldwell, J.; Finsecke, E.; Maria, B. L.; Holden, K.; Cruse, R. P.; Swoboda, K. J.; Viskochil, D.

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Maria Lisa Dentici; Marcello Niceta; Francesca Romana Lepri; Cecilia Mancini; Manuela Priolo; Adeline Alice Bonnard; Camilla Cappelletti; Chiara Leoni; Andrea Ciolfi; Simone Pizzi; Viviana Cordeddu; Cesare Rossi; Marco Ferilli; Mafalda Mucciolo; Vito Luigi Colona; Christine Fauth; Melissa Bellini; Giacomo Biasucci; Lorenzo Sinibaldi; Silvana Briuglia; Andrea Gazzin; Diana Carli; Luigi Memo; Eva Trevisson; Concetta Schiavariello; Maria Luca; Antonio Novelli; Caroline Michot; Anne Sweertvaegher; David Germanaud; Emanuela Scarano; Alessandro De Luca; Giuseppe Zampino; Martin Zenker; Alessandro Mussa; Bruno Dallapiccola; Helene Cavé; Maria Cristina Digilio; Marco Tartaglia

European Journal of Human Genetics. 32:954-963

Pavone P; Briuglia S; Falsaperla S; Warm A; PAVONE, VITO; Bernardini L; Novelli A; Praticò AD; Salpietro V; RUGGIERI, MARTINO

American Journal of Medical Genetics Part A. 164:1734-1743

Capra AP; Department of Chemical, Biological, Pharmaceutical and Environmental Sciences, University of Messina, Viale Ferdinando Stagno D'Alcontres 31, 98166 Messina, Italy.; La Rosa MA; Genetics and Pharmacogenetics Unit, 'Gaetano Martino' University Hospital, Via Consolare Valeria 1, 98125 Messina, Italy.; Briguori S; Genetics and Pharmacogenetics Unit, 'Gaetano Martino' University Hospital, Via Consolare Valeria 1, 98125 Messina, Italy.; Civa R; Genetics and Pharmacogenetics Unit, 'Gaetano Martino' University Hospital, Via Consolare Valeria 1, 98125 Messina, Italy.; Passarelli C; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.; Agolini E; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.; Novelli A; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.; Briuglia S; Genetics and Pharmacogenetics Unit, 'Gaetano Martino' University Hospital, Via Consolare Valeria 1, 98125 Messina, Italy.; Department of Biomedical and Dental Sciences and Morphofunctional Imaging, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

RIGOLI, Luciana Concetta; Briuglia S; Caimmi S; FERRAU', VALERIA; GALLIZZI, Romina; Leonardi S; La Rosa M; SALPIETRO DAMIANO, Carmelo

International Journal of Immunopathology and Pharmacology. 24:41-47

Chirico, V.; Ferraù, V.; Loddo, I.; Briuglia, S.; Amorini, M.; Salpietro, V.; Lacquaniti, A.; Salpietro, C.; Arrigo, T.

Diabetes and Metabolism. 40(3):224-228