부산대학교 도서관

Ertl, D.-A.; Mantovani, G.; de Nanclares, G. P.; Elli, F. M.; Pereda, A.; Pagnano, A.; Sanchis, A.; Cueto-Gonzalez, A. M.; Berrade, S.; León, M. C.; Rothenbuhler, A.; Audrain, C.; Berkenou, J.; Knight, N.; Dolman, K.; Gleiss, A.; Argente, J.; Linglart, A.

Journal of Endocrinological Investigation: Official Journal of Italian Society of Endocrinology (SIE). 46(8):1673-1684

Mehrjoo Y; Maisonneuve-Rosemont Hospital Research Center, Montreal, Québec, Canada.; Molecular Biology Program, Université de Montréal, Montreal, Québec, Canada.; Campeau PM; CHU Sainte-Justine, Montreal, Québec, Canada.; Department of Medicine, Université de Montréal, Montreal, Québec, Canada.; Al Abdi L; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Aldowaish A; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Abouyousef O; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Codina-Solà M; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, Barcelona, Spain.; Cueto-González AM; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, Barcelona, Spain.; Wurtele H; Maisonneuve-Rosemont Hospital Research Center, Montreal, Québec, Canada.; Department of Medicine, Université de Montréal, Montreal, Québec, Canada.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Angius, Andrea; Baker, Janice A.; Bedoukian, Emma; Bhambhani, Vikas; Bodamer, Olaf; O’Brien, Alan; Clayton-Smith, Jill; Crisponi, Laura; Cueto González, Anna María; the DDD study; Devriendt, Koenraad; Garrido, Elena Dominguez; Ehmke, Nadja; van Eerde, Albertien; van den Elzen, Annette P.M.; Faivre, Laurence; Fisher, Laura; Flores-Daboub, Josue A.; Foster, Alison; Friedman, Jennifer; Gabau, Elisabeth; Galazzi, Elena; García-Miñaúr, Sixto; Garavelli, Livia; Gardeitchik, Thatjana; Gerkes, Erica H.; van Gils, Julien; Giltay, Jacques C.; Garcia, Aixa Gonzalez; Heimdal, Ketil Riddervold; Horn, Denise; Houge, Gunnar; Hufnagel, Sophia B.; Ilencikova, Denisa; Julia, Sophie; Kant, Sarina G.; Kinning, Esther; Klee, Eric W.; Kois, Chelsea; Kovačević, Maja; Lachmeijer, A.M.A. (Guus); Lanpher, Brendan; Lebrun, Marine; Leon, Eyby; Lichty, Angie Ward; Lin, Ruth; Llano-Rivas, Isabel; Lynch, Sally Ann; Maas, Saskia M.; Maitz, Silvia B.; McKee, Shane; Melis, Daniela; Merati, Elisabetta; Merla, Giuseppe; Newbury-Ecob, Ruth; Nizon, Mathilde; Park, Soo-Mi; Patterson, Jennifer; Petit, Florence; Peeters, Hilde; Persani, Luca; Persico, Ivana; Pes, Valentina; Pollazzon, Marzia; Potjer, Thomas; Potocki, Lorraine; Pottinger, Carrie; Prasad, Chitra; Prijoles, Eloise J.; Ragge, Nicola K.; Rake, Jan Peter; van Ravenswaaij-Arts, Conny M.A.; Rea, Gillian; Ruivenkamp, Claudia; Rutz, Audrey; Saitta, Sulagna C.; Russo, Rossana Sanchez; Santen, Gijs W.E.; Schaefer, Elise; Shashi, Vandana; Schultz-Rogers, Laura; Sluga, Andrea; Sotgiu, Stefano; Steichen-Gersdorf, Elisabeth; Sullivan, Jennifer A.; Sun, Yu; Suri, Mohnish; Tartaglia, Marco; Tedder, Matt; Terhal, Paulien; Tully, Ian; Verbeek, Nienke; Wenzel, Maren; White, Susan M.; Xiao, Bing; Haghshenas, Sadegheh; Bout, Hidde J.; Schijns, Josephine M.; Levy, Michael A.; Kerkhof, Jennifer; Bhai, Pratibha; McConkey, Haley; Jenkins, Zandra A.; Williams, Ella M.; Halliday, Benjamin J.; Huisman, Sylvia A.; Lauffer, Peter; de Waard, Vivian; Witteveen, Laura; Banka, Siddharth; Brady, Angela F.; Hurst, Anna C.E.; Kaiser, Frank J.; Lacombe, Didier; Martinez-Monseny, Antonio F.; Fergelot, Patricia; Monteiro, Fabíola P.; Parenti, Ilaria; Santos-Simarro, Fernando; Simpson, Brittany N.; Alders, Mariëlle; Robertson, Stephen P.; Sadikovic, Bekim; Menke, Leonie A.

In Human Genetics and Genomics Advances 18 July 2024 5(3)

Grimes H; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Trust, Bristol, UK.; Ansari M; South East Scotland Genetics Service, Western General Hospital, Edinburgh, UK.; Ashraf T; Department of Clinical Genetics, Great Ormond Street Hospital, London, UK.; Cueto-González AM; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, Barcelona, Spain.; Calder A; Department of Radiology, Great Ormond Street Hospital, London, UK.; Day M; Exeter Genetics Laboratory, Royal Devon and Exeter NHS Trust, Exeter, UK.; Fernandez Alvarez P; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Foster A; Department of Clinical Genetics, West Midlands Regional Genetics Centre, Birmingham, UK.; Lahiri N; Department of Clinical Genetics, St Georges University Hospital NHS Foundation Trust, London, UK.; Department of Clinical and Molecular Science, St Georges University of London, London, UK.; Repetto GM; Centro de Genética y Genómica, Facultad de Medicina Clínica Alemana Universidad del Desarrollo, Santiago, Chile.; Scurr I; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Trust, Bristol, UK.; Varghese V; All Wales Medical Genomics Services, University Hospital of Wales, Cardiff, UK.; Low KJ; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Trust, Bristol, UK.; Centre for Academic Child Health, University of Bristol, Bristol, UK.

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

Mehrjoo, Yosra; Campeau, Philippe M.; Al Abdi, Lama; Aldowaish, Abdullah; Abouyousef, Omar; Alkuraya, Fowzan S.; Codina-Sola, Marta; Cueto-Gonzalez, Anna M.; Wurtele, Hugo

CLINICAL GENETICS; MAY 21 2024, 5p.

Grenier, Celine; Lopes, Filipa M.; Cueto-González, Anna M.; Rovira-Moreno, Eulàlia; Gander, Romy; Jarvis, Benjamin W.; McCloskey, Karen D.; Gurney, Alison M.; Beaman, Glenda M.; Newman, William G.; Woolf, Adrian S.; Roberts, Neil A.

In Kidney International Reports July 2023 8(7):1417-1429

Lacombe, Didier; Bloch-Zupan, Agnes; Bredrup, Cecilie; Cooper, Edward B.; Houge, Sofia Douzgou; Garcia-Minaur, Sixto; Kayserili, Hulya; Larizza, Lidia; Gonzalez, Vanesa Lopez; Menke, Leonie A.; Milani, Donatella; Saettini, Francesco; Stevens, Cathy A.; Tooke, Lloyd; van der Zee, Jill A.; Van Genderen, Maria M.; Van-Gils, Julien; Waite, Jane; Adrien, Jean-Louis; Bartsch, Oliver; Bitoun, Pierre; Bouts, Antonia H. M.; Cueto-Gonzalez, Anna M.; Dominguez-Garrido, Elena; Duijkers, Floor A.; Fergelot, Patricia; Halstead, Elisabeth; Huisman, Sylvia A.; Meossi, Camilla; Mullins, Jo; Nikkel, Sarah M.; Oliver, Chris; Prada, Elisabetta; Rei, Alessandra; Riddle, Ilka; Rodriguez-Fonseca, Cristina; Pena, Rebecca Rodriguez; Russell, Janet; Saba, Alicia; Santos-Simarro, Fernando; Simpson, Brittany N.; Smith, David F.; Stevens, Markus F.; Szakszon, Katalin; Taupiac, Emmanuelle; Totaro, Nadia; Palafoll, Irene Valenzuena; van der Kaay, Danielle C. M.; Van Wijk, Michiel P.; Vyshka, Klea; Wiley, Susan; Hennekam, Raoul C.

JOURNAL OF MEDICAL GENETICS; MAR 12 2024, 17p.

van der Sluijs PJ; Joosten M; Alby C; Attié-Bitach T; Gilmore K; Dubourg C; Fradin M; Wang T; Kurtz-Nelson EC; Ahlers KP; Arts P; Barnett CP; Ashfaq M; Baban A; van den Born M; Borrie S; Busa T; Byrne A; Carriero M; Cesario C; Chong K; Cueto-González AM; Dempsey JC; Diderich KEM; Doherty D; Farholt S; Gerkes EH; Gorokhova S; Govaerts LCP; Gregersen PA; Hickey SE; Lefebvre M; Mari F; Martinovic J; Northrup H; O'Leary M; Parbhoo K; Patrier S; Popp B; Santos-Simarro F; Stoltenburg C; Thauvin-Robinet C; Thompson E; Vulto-van Silfhout AT; Zahir FR; Scott HS; Earl RK; Eichler EE; Vora NL; Wilnai Y; Giordano JL; Wapner RJ; Rosenfeld JA; Haak MC; Santen GWE

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: PubMed not MEDLINE; MEDLINE

Loberti L; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.; Bruno LP; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Granata S; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.; Doddato G; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Resciniti S; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Fava F; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.; Carullo M; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Rahikkala E; Department of Clinical Genetics, PEDEGO Research Unit, and Medical Research Center Oulu, University of Oulu and Oulu University Hospital, Oulu 90014, Finland.; Jouret G; National Center of Genetics (NCG), Laboratoire national de santé (LNS), L-3555 Dudelange, Luxembourg.; Menke LA; Amsterdam UMC location University of Amsterdam, Department of Pediatrics, Amsterdam 1100, The Netherlands.; Lederer D; Institut de Pathologie et de Génétique; Centre de Génétique Humaine, Gosselies 6041, Belgium.; Vrielynck P; William Lennox Neurological Hospital, Reference Center for Refractory Epilepsy UCLouvain, Ottignies 1340, Belgium.; Ryba L; Department of Biology and Medical Genetics, Charles University - 2nd Faculty of Medicine and University Hospital Motol, Prague 150 00, Czech Republic.; Brunetti-Pierri N; Department of Translational Medicine, University of Naples 'Federico II', Naples 80125, Italy.; Lasa-Aranzasti A; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain.; Cueto-González AM; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain.; Trujillano L; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain.; Valenzuela I; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain.; Tizzano EF; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain.; Spinelli AM; Regional Coordinating Center for Rare Diseases, Udine 33100, Italy.; Bruno I; Institute for Maternal and Child Health, Trieste 34100, Italy.; Currò A; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano 39100, Italy.; Stanzial F; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano 39100, Italy.; Benedicenti F; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano 39100, Italy.; Lopergolo D; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, Pisa 98125, Italy.; Santorelli FM; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, Pisa 98125, Italy.; Aristidou C; Department of Clinical Genetics and Genomics, The Cyprus Institute of Neurology & Genetics, Nicosia 1683, Cyprus.; Tanteles GA; Department of Clinical Genetics and Genomics, The Cyprus Institute of Neurology & Genetics, Nicosia 1683, Cyprus.; Maystadt I; Institut de Pathologie et de Génétique; Centre de Génétique Humaine, Gosselies 6041, Belgium.; Tkemaladze T; Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi 0162, Georgia.; Reimand T; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia.; Lokke H; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia.; Õunap K; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia.; Haanpää MK; Department of Genomics and Clinical Genetics, Turku University Hospital, Turku 20500, Finland.; Holubová A; Department of Biology and Medical Genetics, Charles University - 2nd Faculty of Medicine and University Hospital Motol, Prague 150 00, Czech Republic.; Zoubková V; Department of Biology and Medical Genetics, Charles University - 2nd Faculty of Medicine and University Hospital Motol, Prague 150 00, Czech Republic.; Schwarz M; Department of Biology and Medical Genetics, Charles University - 2nd Faculty of Medicine and University Hospital Motol, Prague 150 00, Czech Republic.; Žordania R; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Muru K; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia.; Roht L; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia.; Tihveräinen A; Department of Child Neurology, Turku University Hospital, Turku 20500, Finland.; Teek R; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Thomson U; Centre for Neurological Diseases, West-Tallinn Central Hospital, Tallinn 10617, Estonia.; Atallah I; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, 1011 Lausanne, Switzerland.; Superti-Furga A; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, 1011 Lausanne, Switzerland.; Buoni S; Division of Child and Adolescent Neuropsychiatry, University of Siena, Siena 53100, Italy.; Canitano R; Division of Child and Adolescent Neuropsychiatry, University of Siena, Siena 53100, Italy.; Scandurra V; Division of Child and Adolescent Neuropsychiatry, University of Siena, Siena 53100, Italy.; Rossetti A; Clinical Paediatrics, Department of Molecular Medicine and Development, University of Siena, Siena 53100, Italy.; Grosso S; Clinical Paediatrics, Department of Molecular Medicine and Development, University of Siena, Siena 53100, Italy.; Battini R; IRCCS Stella Maris Foundation, Department of Developmental Neuroscience, Pisa 98125, Italy.; Department of Clinical and Experimental Medicine, University of Pisa, Pisa 56122, Italy.; Baldassarri M; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Mencarelli MA; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.; Rizzo CL; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.; Bruttini M; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.; Mari F; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.; Ariani F; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.; Renieri A; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.; Pinto AM; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.

Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Santos-Simarro, Fernando; Pacio, Marta; Cueto-González, Anna María; Mansilla, Elena; Valenzuela-Palafoll, María Irene; López-Grondona, Fermina; Lledín, María Dolores; Schuffelmann, Cristina; del Pozo, Ángela; Solis, Mario; Vallcorba, Patricia; Lapunzina, Pablo; Menéndez Suso, Juan José; Siccha, Sofia M.; Montejo, Juan Manuel; Mena, Rocío; Jiménez-Rodríguez, Carmen; García-Miñaúr, Sixto; Palomares-Bralo, María

In European Journal of Medical Genetics November 2021 64(11)