부산대학교 도서관

Marks, F; Im, J; Park, SE; Pak, GD; Jeon, HJ; Nana, LRW; Phoba, MF; Mbuyi-Kalonji, L; Mogeni, OD; Yeshitela, B; Panzner, U; Espinoza, LMC; Beyene, T; Owusu-Ansah, M; Twumasi-Ankrah, S; Yeshambaw, M; Alemu, A; Adewusi, OJ; Adekanmbi, O; Higginson, E; Adepoju, A; Agbi, S; Cakpo, EG; Ogunleye, VO; Tunda, GN; Ikhimiukor, OO; Mbuyamba, J; Toy, T; Agyapong, FO; Osei, I; Amuasi, J; Razafindrabe, TJL; Raminosoa, TM; Nyirenda, G; Randriamampionona, N; Seo, HW; Seo, H; Siribie, M; Carey, ME; Owusu, M; Meyer, CG; Rakotozandrindrainy, N; Sarpong, N; Razafindrakalia, M; Razafimanantsoa, R; Ouedraogo, M; Kim, YJ; Lee, J; Zellweger, RM; Kang, SSY; Park, JY; Crump, JA; Hardy, L; Jacobs, J; Garrett, DO; Andrews, JR; Poudyal, N; Kim, DR; Clemens, JD; Baker, SG; Kim, JH; Dougan, G; Sugimoto, JD; Van Puyvelde, S; Kehinde, A; Popoola, OA; Mogasale, V; Breiman, RF; MacWright, WR; Aseffa, A; Tadesse, BT; Haselbeck, A; Adu-Sarkodie, Y; Teferi, M; Bassiahi, AS; Okeke, IN; Lunguya-Metila, O; Owusu-Dabo, E; Rakotozandrindrainy, R

The Lancet. Global health. 12(4):e599-e610

Karuntu, Jessica S.; Klouwer, Femke C. C.; Engelen, Marc; Boon, Camiel J. F.

OPHTHALMIC GENETICS; APR 27 2024, 12p.

Parsons, Brendon D.; Medina-Luna, Daniel; Scur, Michal; Pinelli, Marinella; Gamage, Gayani S.; Chilvers, Rebecca A.; Hamon, Yannick; Ahmed, Ibrahim H.I.; Savary, Stéphane; Makrigiannis, Andrew P.; Braverman, Nancy E.; Rodriguez-Alcazar, Juan F.; Latz, Eicke; Karakach, Tobias K.; Di Cara, Francesca

In Cell Reports 27 February 2024 43(2)

Falkenberg, KD; Braverman, NE; Moser, AB; Steinberg, SJ; Klouwer, FCC; Schluter, A; Ruiz, M; Pujol, A; Engvall, M; Naess, K; van Spronsen, F; Korver-Keularts, I; Rubio-Gozalbo, ME; Ferdinandusse, S; Wanders, RJA; Waterham, HR

American journal of human genetics. 101(6):965-976

Gupta, RK; Calderwood, CJ; Yavlinsky, A; Krutikov, M; Quartagno, M; Aichelburg, MC; Altet, N; Diel, R; Dobler, CC; Dominguez, J; Doyle, JS; Erkens, C; Geis, S; Haldar, P; Hauri, AM; Hermansen, T; Johnston, JC; Lange, C; Lange, B; van Leth, F; Munoz, L; Roder, C; Romanowski, K; Roth, D; Sester, M; Sloot, R; Sotgiu, G; Woltmann, G; Yoshiyama, T; Zellweger, JP; Zenner, D; Aldridge, RW; Copas, A; Rangaka, MX; Lipman, M; Noursadeghi, M; Abubakar, I

Nature medicine. 26(11):1941-1949

F. Zellweger; E. Sulmoni; J. T. Malle; A. Baltensweiler; T. Jonas; N. E. Zimmermann; C. Ginzler; D. N. Karger; P. De Frenne; D. Frey; C. Webster

Biogeosciences, Vol 21, Pp 605-623 (2024)

Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: PubMed not MEDLINE; MEDLINE

Yergeau C; Child Health and Human Development Axis, Research Institute of the McGill University Health Center, Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.; Coussa RG; Dean McGee Eye Institute, Department of Ophthalmology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma; The Children's Hospital of Oklahoma, Oklahoma City, Oklahoma; Department of Ophthalmology, McGill University, Montreal, Quebec, Canada.; Antaki F; Department of Ophthalmology, Centre Hospitalier de l'Université de Montréal (CHUM), Montreal, Quebec, Canada.; Argyriou C; Child Health and Human Development Axis, Research Institute of the McGill University Health Center, Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montreal, Quebec, Canada. Electronic address: catherine.argyriou@mail.mcgill.ca.; Koenekoop RK; Department of Ophthalmology, McGill University, Montreal, Quebec, Canada; Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Department of Paediatric Surgery, McGill University, Montreal, Quebec, Canada.; Braverman NE; Child Health and Human Development Axis, Research Institute of the McGill University Health Center, Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montreal, Quebec, Canada; Department of Pediatrics, McGill University, Montreal, Quebec, Canada.

Publisher: Elsevier Country of Publication: United States NLM ID: 7802443 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1549-4713 (Electronic) Linking ISSN: 01616420 NLM ISO Abbreviation: Ophthalmology Subsets: MEDLINE

Borgia P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy.; Baldassari S; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.; Pedemonte N; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.; Alkhunaizi E; Department of Genetics, North York General Hospital, University of Toronto, Toronto, ON, Canada.; D'Onofrio G; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy.; Tortora D; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.; Calì E; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.; Scudieri P; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.; Balagura G; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.; Musante I; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.; Diana MC; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy.; Pedemonte M; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy.; Vari MS; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy.; Iacomino M; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.; Riva A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy.; Chimenz R; Unit of Pediatric Nephrology and Dialysis, Department of Human Pathology in Adult and Developmental Age 'Gaetano Barresi', University of Messina, Via Consolare Valeria 1, 98125, Messina, Italy.; Mangano GD; Department Pro.M.I.S.E. 'G. D'Alessandro', University of Palermo, Palermo, Italy.; Mohammadi MH; Department of Pediatrics, Zabol University of Medical Sciences, Zabol, Iran.; Toosi MB; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.; Ashrafzadeh F; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Imannezhad S; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.; Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, SW170RE, UK.; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran.; Accogli A; Division of Medical Genetics, Department of Specialized Medicine, Montreal Children's Hospital, McGill University Health Centre (MUHC), Montreal, QC, H4A 3J1, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Schiaffino MC; Pediatric Clinic and Endocrinology Unit, Department of General and Specialist Pediatric Sciences, University of Genoa, 16147, Genoa, Italy.; Maghnie M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.; Pediatric Clinic and Endocrinology Unit, Department of General and Specialist Pediatric Sciences, University of Genoa, 16147, Genoa, Italy.; Soler MA; Computational Modelling of Nanoscale and Biophysical Systems Laboratory, Italian Institute of Technology, 16163, Genoa, Italy.; Echiverri K; Departments of Neurology and Ophthalmology, University of Kentucky, Lexington, 40506, USA.; Abrams CK; Department of Neurology and Rehabilitation, College of Medicine, University of Illinois at Chicago, Chicago, IL, 60607, USA.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy.; Fortuna S; Computational Modelling of Nanoscale and Biophysical Systems Laboratory, Italian Institute of Technology, 16163, Genoa, Italy.; Department of Chemical and Pharmaceutical Sciences, University of Trieste, 34134, Trieste, Italy.; Maroofian R; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.; Houlden H; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.; Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.; Fiorillo C; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy. chiarafiorillo@gaslini.org.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy. chiarafiorillo@gaslini.org.; Salpietro V; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK. v.salpietro@ucl.ac.uk.; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, 67100, L'Aquila, Italy. v.salpietro@ucl.ac.uk.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Hollywood Reporter. November 28, 2014, Vol. 420 Issue 41, p70, 9 p.