부산대학교 도서관

Crow, YJ; Chase, DS; Schmidt, JL; Szynkiewicz, M; Forte, GMA; Gornall, HL; Oojageer, A; Anderson, B; Pizzino, A; Helman, G; Abdel-Hamid, MS; Abdel-Salam, GM; Ackroyd, S; Aeby, A; Agosta, G; Albin, C; Allon-Shalev, S; Arellano, M; Ariaudo, G; Aswani, V; Babul-Hirji, R; Baildam, EM; Bahi-Buisson, N; Bailey, KM; Barnerias, C; Barth, M; Battini, R; Beresford, MW; Bernard, G; Bianchi, M; de Villemeur, TB; Blair, EM; Bloom, M; Burlina, AB; Carpanelli, ML; Carvalho, DR; Castro-Gago, M; Cavallini, A; Cereda, C; Chandler, KE; Chitayat, DA; Collins, AE; Corcoles, CS; Cordeiro, NJV; Crichiutti, G; Dabydeen, L; Dale, RC; D'Arrigo, S; De Goede, CGEL; De Laet, C; De Waele, LMH; Denzler, I; Desguerre, I; Devriendt, K; Di Rocco, M; Fahey, MC; Fazzi, E; Ferrie, CD; Figueiredo, A; Gener, B; Goizet, C; Gowrinathan, NR; Gowrishankar, K; Hanrahan, D; Isidor, B; Kara, L; Khan, N; King, MD; Kirk, EP; Kumar, R; Lagae, L; Landrieu, P; Lauffer, H; Laugel, V; La Piana, R; Lim, MJ; Lin, JPSM; Linnankivi, T; Mackay, MT; Marom, DR; Lourenco, CM; McKee, SA; Moroni, I; Morton, JEV; Moutard, ML; Murray, K; Nabbout, R; Nampoothiri, S; Nunez-Enamorado, N; Oades, PJ; Olivieri, I; Ostergaard, JR; Perez-Duenas, B; Prendiville, JS; Ramesh, V; Rasmussen, M; Regal, L; Ricci, F; Rio, M; Rodriguez, D; Roubertie, A; Salvatici, E; Segers, KA; Sinha, GP; Soler, D; Spiegel, R; Stodberg, TI; Straussberg, R; Swoboda, KJ; Suri, M; Tacke, U; Tan, TY; Naude, JT; Teik, KW; Thomas, MM; Till, M; Tonduti, D; Valente, EM; Van Coster, RN; van der Knaap, MS; Vassallo, G; Vijzelaar, R; Vogt, J; Wallace, GB; Wassmer, E; Webb, HJ; Whitehouse, WP; Whitney, RN; Zaki, MS; Zuberi, SM; Livingston, JH; Rozenberg, F; Lebon, P; Vanderver, A; Orcesi, S; Rice, GI

American journal of medical genetics. Part A. 167(167A):296-312

Alkhunaizi E; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Albrecht JP; Cancer Risk and Prevention Clinic, Outpatient Care, Maine Health, Portland, Maine, USA.; Aarabi M; UPMC Medical Genetics & Genomics Laboratories, UPMC Magee-Womens Hospital, Pittsburgh, Pennsylvania, USA.; Departments of Pathology, and Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.; Witchel SF; Division of Endocrinology, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Wherrett D; Division of Endocrinology, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; Babul-Hirji R; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Dupuis A; Department of Biostatistics, University of Toronto, Toronto, Ontario, Canada.; Chiniara L; Department of Pediatrics, Division of Endocrinology, CHU Sainte-Justine and University of Montreal, Montreal, Quebec, Canada.; Chater-Diehl E; Department of Pediatric Laboratory Medicine, Cytogenomics Laboratory, Cytogenomics and Genome Resources Facility, The Hospital for Sick Children, Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.; Shago M; Department of Pediatric Laboratory Medicine, Cytogenomics Laboratory, Cytogenomics and Genome Resources Facility, The Hospital for Sick Children, Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.; Shuman C; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Rajkovic A; Department of Pathology, and Department of Obstetrics, Gynecology and Reproductive Sciences, University of California San Francisco, San Francisco, California, USA.; Institute of Human Genetics, University of California San Francisco, San Francisco, California, USA.; Yatsenko SA; UPMC Medical Genetics & Genomics Laboratories, UPMC Magee-Womens Hospital, Pittsburgh, Pennsylvania, USA.; Departments of Pathology, and Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.; Magee-Womens Research Institute, Pittsburgh, Pennsylvania, USA.; Chitayat D; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.

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

Silveira KC; Department of Medical Genetics, University of Alberta, Edmonton, AB, T6G 2H7, Canada.; Fonseca IC; Clinical Genetics, Durham Region Cancer Centre, Lakeridge Health Oshawa, Oshawa, ON, L1G 2B9, Canada.; Oborn C; Department of Medical Genetics, University of Alberta, Edmonton, AB, T6G 2H7, Canada.; Wengryn P; Department of Medical Genetics, University of Alberta, Edmonton, AB, T6G 2H7, Canada.; Ghafoor S; Department of Medical Genetics, University of Alberta, Edmonton, AB, T6G 2H7, Canada.; Beke A; Department of Medical Genetics, University of Alberta, Edmonton, AB, T6G 2H7, Canada.; Dreseris ES; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, M5G 0A4, Canada.; Wong C; Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health System, Toronto, ON, Canada.; Iacovone A; Skeletal Dysplasia Group, Medical Genetics Area, Translational Medicine Department, FCM, University of Campinas (UNICAMP), R. Tessália V de Camargo, 126, Campinas, SP, 13083-887, Brazil.; Soltys CL; Department of Medical Genetics, University of Alberta, Edmonton, AB, T6G 2H7, Canada.; Babul-Hirji R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Artigalas O; Clinical Genetics Unit, Children's Hospital, Grupo Hospitalar Conceicao, Porto Alegre, Brazil.; Antolini-Tavares A; Department of Pathological Anatomy, University of Campinas, Campinas, 13083-888, Brazil.; Gingras AC; Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health System, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, M5S 1A8, Canada.; Campos E; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, M5G 0A4, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, M5S 1A8, Canada.; Cavalcanti DP; Skeletal Dysplasia Group, Medical Genetics Area, Translational Medicine Department, FCM, University of Campinas (UNICAMP), R. Tessália V de Camargo, 126, Campinas, SP, 13083-887, Brazil. denisepcavalcanti@gmail.com.; Kannu P; Department of Medical Genetics, University of Alberta, Edmonton, AB, T6G 2H7, Canada. kannu@ualberta.ca.

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

Hayeems, R. Z.; Babul-Hirji, R.; Hoang, N.; Weksberg, R.; Shuman, C.

Journal of Genetic Counseling: The official Journal of the National Society of Genetic Counselors. 25(2):298-304

Moran, O.M.; Flamenbaum, K.; Myles Reid, D.; McCuaig, J.M.; Babul-Hirji, R.; Chitayat, D.; Roifman, M.

In: F and S Reports. (F and S Reports, December 2023, 4(4):353-360)

Liang NSY; Department of Genetic Counselling, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Watts-Dickens A; Department of Genetic Counselling, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada.; Chitayat D; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada.; Babul-Hirji R; Department of Genetic Counselling, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada.; Chakraborty P; Newborn Screening Ontario, Ottawa, ON K1H 8M8, Canada.; Hayeems RZ; Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Health Policy, Management and Evaluation, University of Toronto, ON M5T 3M6, Canada.

Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101648936 Publication Model: Electronic Cited Medium: Print ISSN: 2227-9067 (Print) Linking ISSN: 22279067 NLM ISO Abbreviation: Children (Basel) Subsets: PubMed not MEDLINE

Zahavich L; Department of Genetic Counselling, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Babul-Hirji R; Department of Genetic Counselling, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.

Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3599 (Electronic) Linking ISSN: 10597700 NLM ISO Abbreviation: J Genet Couns Subsets: MEDLINE

Ejaz, Resham; Lionel, Anath C.; Blaser, Susan; Walker, Susan; Scherer, Stephen W.; Babul‐Hirji, Riyana; Marshall, Christian R.; Stavropoulos, Dimitri J.; Chitayat, David

American Journal of Medical Genetics Part A. Oct 01, 2017 173(10):2725-2730

Crow, Yanick J.; Leitch, Andrea; Hayward, Bruce E.; Garner, Anna; Parmar, Rekha; Griffith, Elen; Ali, Manir; Semple, Colin; Aicardi, Jean; Babul-Hirji, Riyana; Baumann, Clarisse; Baxter, Peter; Bertini, Enrico; Chandler, Kate E.; Chitayat, David; Cau, Daniel; Dery, Catherine; Fazzi, Elisa; Goizet, Cyril; King, Mary D.; Klepper, Joerg; Lacombe, Didier; Lanzi, Giovanni; Lyall, Hermione; Martinez-Frias, Maria Luisa; Mathieu, Michele; McKeown, Carole; Monier, Anne; Oade, Yvette; Quarrell, Oliver W.; Rittey, Christopher D.; Rogers, R Curtis; Sanchis, Amparo; Stephenson, John B P; Tacke, Uta; Till, Marianne; Tolmie, John L.; Tomlin, Pam; Voit, Thomas; Weschke, Bernhard; Woods, C Geoffrey; Lebon, Pierre; Bonthron, David T.; Ponting, Chris P.; Jackson, Andrew P.

Nature Genetics. August, 2006, Vol. 38 Issue 8, p910, 7 p.

Handrigan, Gregory Ryan; Chitayat, David; Lionel, Anath C; Pinsk, Maury; Vaags, Andrea K; Marshall, Christian R; Dyack, Sarah; Escobar, Luis F; Fernandez, Bridget A; Stegman, Joseph C; Rosenfeld, Jill A; Shaffer, Lisa G; Goodenberger, McKinsey; Hodge, Jennelle C; Cain, Jason E; Babul-Hirji, Riyana; Stavropoulos, Dimitri J; Yiu, Verna; Scherer, Stephen W; Rosenblum, Norman D

Journal of Medical Genetics. Mar 01, 2013 50(3):163-173