المؤلفون: Nakagawa, Shoma, Carnevali, Davide, Tan, Xiangtian, Alvarez, Mariano J., Parfitt, David-Emlyn, Di Vicino, Umberto, Arumugam, Karthik, Shin, William, Aranda, Sergi, Normanno, Davide, Sebastian-Perez, Ruben, Cannatá, Chiara, Cortes, Paola, Neguembor, Maria Victoria, Shen, Michael M., Califano, Andrea, Cosma, Maria Pia

المصدر: In Stem Cell Reports 14 May 2024 19(5):689-709

المؤلفون: Aguila, Monica, Bellingham, James, Athanasiou, Dimitra, Bevilacqua, Dalila, Duran, Yanai, Maswood, Ryea, Parfitt, David A., Iwawaki, Takao, Spyrou, Ioannis, Smith, Alexander J., Ali, Robin R., Cheetham, Michael E.

المصدر: Human Molecular Genetics. 29(8):1310-1318

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-167311
https://liu.diva-portal.org/smash/get/diva2:1450999/FULLTEXT01.pdf

المؤلفون: Christopoulos, Stavros-Richard G., Papadopoulou, Konstantina A., Konios, Alexandros, Parfitt, David

المصدر: In Computational Materials Science 1 February 2022 202

المؤلفون: Sharma, Deepak, Kada, Sitarama Raju, Fabijanic, Daniel, Parfitt, David, Chen, Bo, Roebuck, Bryan, Fitzpatrick, Michael E., Barnett, Matthew Robert

المصدر: In Additive Manufacturing December 2021 48 Part A

المؤلفون: Sharma, Deepak, Parfitt, David, Chen, Bo, Roebuck, Bryan, Venero, Diego Alba, Kada, Sitarama Raju, Fabijanic, Daniel, Fitzpatrick, Michael E.

المصدر: In Journal of Alloys and Compounds 5 April 2021 859

المؤلفون: Arno, Gavin, Agrawal, Smriti A, Eblimit, Aiden, Bellingham, James, Xu, Mingchu, Wang, Feng, Chakarova, Christina, Parfitt, David A, Lane, Amelia, Burgoyne, Thomas, Hull, Sarah, Carss, Keren J, Fiorentino, Alessia, Hayes, Matthew J, Munro, Peter M, Nicols, Ralph, Pontikos, Nikolas, Holder, Graham E, UKIRDC, Black, Graeme, Hall, Georgina, Ingram, Stuart, Gillespie, Rachel, Manson, Forbes, Sergouniotis, Panagiotis, Inglehearn, Chris, Toomes, Carmel, Ali, Manir, McKibbin, Martin, Poulter, James, Khan, Kamron, Lord, Emma, Nemeth, Andrea, Downes, Susan, Yu, Jing, Lise, Stefano, Ponitkos, Nikos, Plagnol, Vincent, Michaelides, Michel, Hardcastle, Alison J, Cheetham, Michael E, Webster, Andrew R, van Heyningen, Veronica, Asomugha, Chinwe, Raymond, F Lucy, Moore, Anthony T, Li, Yumei, Cukras, Catherine, Chen, Rui

المصدر: American Journal of Human Genetics. 99(6)

مصطلحات موضوعية: Genetics, Biotechnology, Neurodegenerative, Rare Diseases, Clinical Research, Eye Disease and Disorders of Vision, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Eye, Adolescent, Alleles, Animals, Child, Child, Preschool, Eye Proteins, Female, Genes, Recessive, Humans, Induced Pluripotent Stem Cells, Male, Membrane Proteins, Membrane Transport Proteins, Mice, Mutation, Mutation, Missense, Phenotype, Photoreceptor Cells, Vertebrate, Retinitis Pigmentosa, Young Adult, UKIRDC, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0hc1b772

المؤلفون: Parfitt, David A, Lane, Amelia, Ramsden, Conor M, Carr, Amanda-Jayne F, Munro, Peter M, Jovanovic, Katarina, Schwarz, Nele, Kanuga, Naheed, Muthiah, Manickam N, Hull, Sarah, Gallo, Jean-Marc, da Cruz, Lyndon, Moore, Anthony T, Hardcastle, Alison J, Coffey, Peter J, Cheetham, Michael E

المصدر: Cell Stem Cell. 18(6)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Eye Disease and Disorders of Vision, Rare Diseases, Stem Cell Research - Induced Pluripotent Stem Cell, Clinical Research, Neurosciences, Pediatric, Stem Cell Research, Stem Cell Research - Induced Pluripotent Stem Cell - Human, Genetics, 2.1 Biological and endogenous factors, Aetiology, Eye, Antigens, Neoplasm, Blindness, Cell Cycle Proteins, Cell Differentiation, Cilia, Cytoskeletal Proteins, Exons, Eye Proteins, Fibroblasts, Humans, Induced Pluripotent Stem Cells, Inheritance Patterns, Leber Congenital Amaurosis, Male, Morpholinos, Neoplasm Proteins, Opsins, Optic Disk, Organogenesis, Photoreceptor Cells, Vertebrate, RNA Splicing, RNA, Messenger, Retinal Pigment Epithelium, rab GTP-Binding Proteins, Biological Sciences, Medical and Health Sciences, Developmental Biology, Biological sciences, Biomedical and clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0db7p78x

المؤلفون: Zarouchlioti, Christina, Parfitt, David A., Li, Wenwen, Gittings, Lauren M., Cheetham, Michael E.

المصدر: Philosophical Transactions: Biological Sciences, 2018 Jan . 373(1738), 1-14.

URL الوصول: https://www.jstor.org/stable/44679253

المؤلفون: Ramadhan, Ranggi S., Syed, Abdul K., Tremsin, Anton S., Kockelmann, Winfried, Dalgliesh, Robert, Chen, Bo, Parfitt, David, Fitzpatrick, Michael E.

المصدر: In Materials & Design 5 April 2018 143:56-64

المؤلفون: Parfitt, David A.^Aff7, Cheetham, Michael E.^Aff7

المساهمون: Bowes Rickman, Catherine, editor^Aff1, LaVail, Matthew M., editor^Aff2, Anderson, Robert E., editor^Aff3, Grimm, Christian, editor^Aff4, Hollyfield, Joe, editor^Aff5, Ash, John, editor^Aff6

المصدر: Retinal Degenerative Diseases : Mechanisms and Experimental Therapy. 854:479-484