부산대학교 도서관

Annals for Istrian & Mediterranean Studies / Annales: Series Historia et Sociologia. 2023, Vol. 33 Issue 4, p673-694. 22p.

McGlacken-Byrne SM; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.; Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, United Kingdom.; EGA Institute for Women's Health, University College London, London, United Kingdom.; Del Valle I; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.; Quesne Stabej PL; GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.; Department of Molecular Medicine and Pathology, University of Auckland, Auckland, New Zealand.; Bellutti L; Laboratory of Development of the Gonads, Genetic Stability Stem Cells and Radiations, CEA/IBFJ/iRCM, University of Paris-Saclay, University Paris City, Fontenay aux Roses, France.; Garcia-Alonso L; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom.; Ocaka LA; GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.; Ishida M; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.; Suntharalingham JP; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.; Gagunashvili A; GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.; Ogunbiyi OK; Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Developmental Biology and Cancer Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.; Mistry T; Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Developmental Biology and Cancer Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.; Buonocore F; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.; Crespo B; Developmental Biology and Cancer Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.; Moreno N; Developmental Biology and Cancer Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.; Niola P; UCL Genomics, Zayed Centre for Research, University College London, London, United Kingdom.; Brooks T; UCL Genomics, Zayed Centre for Research, University College London, London, United Kingdom.; Brain CE; Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, United Kingdom.; Dattani MT; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.; Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, United Kingdom.; Kelberman D; GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.; Vento-Tormo R; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom.; Lagos CF; Chemical Biology & Drug Discovery Lab, School of Pharmaceutical Chemistry, Faculty of Medicine and Science, San Sebastián University, Providencia, Santiago, Chile.; Livera G; Laboratory of Development of the Gonads, Genetic Stability Stem Cells and Radiations, CEA/IBFJ/iRCM, University of Paris-Saclay, University Paris City, Fontenay aux Roses, France.; Conway GS; EGA Institute for Women's Health, University College London, London, United Kingdom.; Achermann JC; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.

Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: Electronic Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE

Whittaker DE; Centre for Craniofacial and Regenerative Biology, King's College London, London, United Kingdom.; Department of Comparative Biomedical Sciences, Royal Veterinary College, London, United Kingdom.; Oleari R; Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy.; Gregory LC; Section of Molecular Basis of Rare Disease, Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Le Quesne-Stabej P; Section of Molecular Basis of Rare Disease, Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Williams HJ; Section of Molecular Basis of Rare Disease, Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Torpiano JG; Department of Paediatrics and.; Adult Endocrinology Service, Mater Dei Hospital, Msida, Malta.; Formosa N; Department of Paediatrics and.; Cachia MJ; Adult Endocrinology Service, Mater Dei Hospital, Msida, Malta.; Field D; Centre for Craniofacial and Regenerative Biology, King's College London, London, United Kingdom.; Lettieri A; Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy.; Ocaka LA; Section of Molecular Basis of Rare Disease, Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Paganoni AJ; Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy.; Rajabali SH; Centre for Craniofacial and Regenerative Biology, King's College London, London, United Kingdom.; Riegman KL; Centre for Craniofacial and Regenerative Biology, King's College London, London, United Kingdom.; De Martini LB; Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy.; Chaya T; Laboratory for Molecular and Developmental Biology, Institute for Protein Research, Osaka University, Osaka, Japan.; Robinson IC; The Francis Crick Institute, London, United Kingdom.; Furukawa T; Laboratory for Molecular and Developmental Biology, Institute for Protein Research, Osaka University, Osaka, Japan.; Cariboni A; Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy.; Basson MA; Centre for Craniofacial and Regenerative Biology, King's College London, London, United Kingdom.; MRC Centre for Neurodevelopmental Disorders, King's College London, London, United Kingdom.; Dattani MT; Section of Molecular Basis of Rare Disease, Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.

Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

Berry V; Department of Genetics, UCL Institute of Ophthalmology, University College London, 11-43 Bath Street, London, EC1V 9EL, UK. v.berry@ucl.ac.uk.; Moorfields Eye Hospital NHS Foundation Trust, London, EC1V 2PD, UK. v.berry@ucl.ac.uk.; Ionides A; Moorfields Eye Hospital NHS Foundation Trust, London, EC1V 2PD, UK.; Pontikos N; Department of Genetics, UCL Institute of Ophthalmology, University College London, 11-43 Bath Street, London, EC1V 9EL, UK.; Moorfields Eye Hospital NHS Foundation Trust, London, EC1V 2PD, UK.; Georgiou M; Department of Genetics, UCL Institute of Ophthalmology, University College London, 11-43 Bath Street, London, EC1V 9EL, UK.; Moorfields Eye Hospital NHS Foundation Trust, London, EC1V 2PD, UK.; Yu J; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK.; Ocaka LA; GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, WC1N 1EH, UK.; Moore AT; Moorfields Eye Hospital NHS Foundation Trust, London, EC1V 2PD, UK.; Ophthalmology Department, University of California School of Medicine, San Francisco, CA, 94158, USA.; Quinlan RA; Department of Biosciences, University of Durham, Upper Mountjoy Science Site, Durham, DH1 3LE, UK.; Michaelides M; Department of Genetics, UCL Institute of Ophthalmology, University College London, 11-43 Bath Street, London, EC1V 9EL, UK. michel.michaelides@ucl.ac.uk.; Moorfields Eye Hospital NHS Foundation Trust, London, EC1V 2PD, UK. michel.michaelides@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

Gregory LC; Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Shah P; Great Ormond Street Hospital, London, United Kingdom.; Sanner JRF; Great Ormond Street Hospital, London, United Kingdom.; Arancibia M; Division de Pediatria, Escuela de Medicina, Pontificia Universidad Catolica de Chile, Santiago, Chile.; Hurst J; NE Thames Genetics Service, Great Ormond Street Hospital, London, United Kingdom.; Jones WD; NE Thames Genetics Service, Great Ormond Street Hospital, London, United Kingdom.; Spoudeas H; Great Ormond Street Hospital, London, United Kingdom.; Le Quesne Stabej P; Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Williams HJ; Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Ocaka LA; Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Loureiro C; Division de Pediatria, Escuela de Medicina, Pontificia Universidad Catolica de Chile, Santiago, Chile.; Martinez-Aguayo A; Division de Pediatria, Escuela de Medicina, Pontificia Universidad Catolica de Chile, Santiago, Chile.; Dattani MT; Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Great Ormond Street Hospital, London, United Kingdom.

Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

Schramm, Stine; Kaducu, Felix Ocaka; Smedemark, Siri Aas; Ovuga, Emilio; Sodemann, Morten

Tropical Medicine & International Health. Jun2016, Vol. 21 Issue 6, p807-817. 11p.

Mackay DS; Department of Human Genetics, Institute of Ophthalmology, UCL, London, UK.; Borman AD; Department of Human Genetics, Institute of Ophthalmology, UCL, London, UK.; Moorfields Eye Hospital, London, UK.; Sui R; Ophthalmology, Peking Union Med College Hosp, Beijing, China.; van den Born LI; The Rotterdam Eye Hospital, Rotterdam, The Netherlands.; Berson EL; Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear, Boston, Massachusetts, USA.; Ocaka LA; Department of Human Genetics, Institute of Ophthalmology, UCL, London, UK.; Davidson AE; Department of Human Genetics, Institute of Ophthalmology, UCL, London, UK.; Heckenlively JR; Kellogg Eye Center, Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, Michigan.; Branham K; Kellogg Eye Center, Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, Michigan.; Ren H; McGill Ocular Genetics Laboratory, Departments of Pediatric Surgery, Human Genetics and Ophthalmology, McGill University Health Centre, Montreal, Quebec, Canada.; Lopez I; McGill Ocular Genetics Laboratory, Departments of Pediatric Surgery, Human Genetics and Ophthalmology, McGill University Health Centre, Montreal, Quebec, Canada.; Maria M; Department of Human Genetics, Radboud University Medical Centre, and Nijmegen Centre for Molecular Life Sciences, Nijmegen, The Netherlands.; Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.; Azam M; Department of Human Genetics, Radboud University Medical Centre, and Nijmegen Centre for Molecular Life Sciences, Nijmegen, The Netherlands.; Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.; Henkes A; Department of Human Genetics, Radboud University Medical Centre, and Nijmegen Centre for Molecular Life Sciences, Nijmegen, The Netherlands.; Blokland E; Department of Human Genetics, Radboud University Medical Centre, and Nijmegen Centre for Molecular Life Sciences, Nijmegen, The Netherlands.; Qamar R; Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.; Al-Nafees Medical College & Hospital, Isra University, Islamabad, Pakistan.; Webster AR; Department of Human Genetics, Institute of Ophthalmology, UCL, London, UK.; Moorfields Eye Hospital, London, UK.; Cremers FPM; Department of Human Genetics, Radboud University Medical Centre, and Nijmegen Centre for Molecular Life Sciences, Nijmegen, The Netherlands.; Moore AT; Department of Human Genetics, Institute of Ophthalmology, UCL, London, UK.; Moorfields Eye Hospital, London, UK.; Koenekoop RK; McGill Ocular Genetics Laboratory, Departments of Pediatric Surgery, Human Genetics and Ophthalmology, McGill University Health Centre, Montreal, Quebec, Canada.; Andreasson S; Department of Human Genetics, Institute of Ophthalmology, UCL, London, UK.; de Baere E; Department of Human Genetics, Institute of Ophthalmology, UCL, London, UK.; Bennett J; Department of Human Genetics, Institute of Ophthalmology, UCL, London, UK.; Chader GJ; Department of Human Genetics, Institute of Ophthalmology, UCL, London, UK.; Berger W; Department of Human Genetics, Institute of Ophthalmology, UCL, London, UK.; Golovleva I; Department of Human Genetics, Institute of Ophthalmology, UCL, London, UK.; Greenberg J; Department of Human Genetics, Institute of Ophthalmology, UCL, London, UK.; den Hollander AI; Department of Human Genetics, Institute of Ophthalmology, UCL, London, UK.; Klaver CCW; Department of Human Genetics, Institute of Ophthalmology, UCL, London, UK.; Klevering BJ; Department of Human Genetics, Institute of Ophthalmology, UCL, London, UK.; Lorenz B; Department of Human Genetics, Institute of Ophthalmology, UCL, London, UK.; Preising MN; Department of Human Genetics, Institute of Ophthalmology, UCL, London, UK.; Ramsear R; Department of Human Genetics, Institute of Ophthalmology, UCL, London, UK.; Roberts L; Department of Human Genetics, Institute of Ophthalmology, UCL, London, UK.; Roepman R; Department of Human Genetics, Institute of Ophthalmology, UCL, London, UK.; Rohrschneider K; Department of Human Genetics, Institute of Ophthalmology, UCL, London, UK.; Wissinger B; Department of Human Genetics, Institute of Ophthalmology, UCL, London, UK.

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

Dev Borman A; UCL Institute of Ophthalmology, London, United Kingdom.; Ocaka LA; Mackay DS; Ripamonti C; Henderson RH; Moradi P; Hall G; Black GC; Robson AG; Holder GE; Webster AR; Fitzke F; Stockman A; Moore AT

Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Electronic Cited Medium: Internet ISSN: 1552-5783 (Electronic) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE

Mackay DS; Department of Genetics, Institute of Ophthalmology, London, United Kingdom. d.mackay@ucl.ac.uk; Ocaka LA; Borman AD; Sergouniotis PI; Henderson RH; Moradi P; Robson AG; Thompson DA; Webster AR; Moore AT

Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Electronic Cited Medium: Internet ISSN: 1552-5783 (Electronic) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE

El-Aziz, MMA; El-Ashry, MF; Lehmann, OJ; Ocaka, L; Jordan, T; Wilkie, S; Ficker, LA; Khaw, PT

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE; MAR 15 2001, 42 4, pS115-pS115, 1p. Supplement: S