المؤلفون: Muggenthaler, Martina M. A., Chowdhury, Biswajit, Hasan, S. Naimul, Cross, Harold E., Mark, Brian, Harlalka, Gaurav V., Patton, Michael A., Ishida, Miho, Behr, Elijah R., Sharma, Sanjay, Zahka, Kenneth, Faqeih, Eissa, Blakley, Brian, Jackson, Mike, Lees, Melissa, Dolinsky, Vernon, Cross, Leroy, Stanier, Philip, Salter, Claire, Baple, Emma L., Alkuraya, Fowzan S., Crosby, Andrew H., Triggs-Raine, Barbara, Chioza, Barry A.

مرشدي الرسالة: Univ Arizona, Coll Med, Dept Ophthalmol

العلاقة: http://dx.plos.org/10.1371/journal.pgen.1006470Test

الإتاحة: http://hdl.handle.net/10150/623116Test
http://arizona.openrepository.com/arizona/handle/10150/623116Test

المؤلفون: Khalaf‐Nazzal, Reham, Dweikat, Imad, Ubeyratna, Nishanka, Fasham, James, Alawneh, Maysa, Leslie, Joseph, Maree, Mosab, Gunning, Adam, Zayed, Deyala Z., Voutsina, Nikol, McGavin, Lucy, Sawafta, Reem, Owens, Martina, Baker, Wisam, Turnpenny, Peter, Al‐Hijawi, Fida’, Baple, Emma L., Crosby, Andrew H., Rawlins, Lettie E.

المساهمون: Medical Research Foundation, Medical Research Council, National Institute for Health and Care Research

المصدر: American Journal of Medical Genetics Part A ; volume 194, issue 7 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.63579Test

المؤلفون: D'Atri, Ilaria, Martin, Emily-Rose, Yang, Liming, Sears, Elizabeth, Baple, Emma, Crosby, Andrew H., Chilton, John K., Oguro-Ando, Asami

المصدر: Neuroscience Letters ; page 137778 ; ISSN 0304-3940

مصطلحات موضوعية: General Neuroscience

الإتاحة: https://doi.org/10.1016/j.neulet.2024.137778Test
https://api.elsevier.com/content/article/PII:S0304394024001551?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0304394024001551?httpAccept=text/plainTest

المؤلفون: Salter, Claire G, Cai, Yiying, Lo, Bernice, Helman, Guy, Taylor, Henry, McCartney, Amber, Leslie, Joseph S, Accogoli, Andrea, Zara, Frederico, Traverso, Monica, Fasham, James, Lees, Joshua A, Ferla, Matteo, Chioza, Barry A, Wenger, Olivia, Scott, Ethan, Cross, Harold E, Crawford, Joanna, Warshawsky, Ilka, Keisling, Matthew, Agamanolis, Dimitris, Melver, Catherine Ward, Cox, Helen, Elawad, Mamoun, Marton, Tamas, Wakeling, Matthew, Holzinger, Dirk, Tippelt, Stephan, Munteanu, Martin, Valcheva, Deyana, Deal, Christin, Van Meerbeke, Sara, Vockley, Catherine Walsh, Butte, Manish J, Acar, Utkucan, van der Knaap, Marjo S, Korenke, G Christoph, Kotzaeridou, Urania, Balla, Tamas, Simons, Cas, Uhlig, Holm H, Crosby, Andrew H, De Camilli, Pietro, Wolf, Nicole I, Baple, Emma L

المصدر: Brain. 144(12)

مصطلحات موضوعية: Digestive Diseases, Pediatric, 1.1 Normal biological development and functioning, Aetiology, 2.1 Biological and endogenous factors, Underpinning research, Oral and gastrointestinal, Female, Hereditary Central Nervous System Demyelinating Diseases, Humans, Intestinal Atresia, Male, Minor Histocompatibility Antigens, Pedigree, Phosphotransferases (Alcohol Group Acceptor), Polymorphism, Single Nucleotide, Primary Immunodeficiency Diseases, hypomyelinating leukodystrophy, multiple intestinal atresia, PI4KA, FAM126A, TTC7A, PI4KA, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9g7991s4Test

المؤلفون: Fasham, James, Arno, Gavin, Lin, Siying, Xu, Mingchu, Carss, Keren J, Hull, Sarah, Lane, Amelia, Robson, Anthony G, Wenger, Olivia, Self, Jay E, Harlalka, Gaurav V, Salter, Claire G, Schema, Lynn, Moss, Timothy J, Cheetham, Michael E, Moore, Anthony T, Raymond, F Lucy, Chen, Rui, Baple, Emma L, Webster, Andrew R, Crosby, Andrew H, Consortium, NIHR Bioresource Rare Diseases

المصدر: American Journal of Medical Genetics Part A. 179(8)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Clinical Sciences, Genetics, Adolescent, Adult, Carrier Proteins, Child, Consanguinity, DNA Mutational Analysis, Female, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Mutation, Pedigree, Phenotype, Young Adult, Brachydactyly, CCNA2-CDK2, Intellectual disability, Retinitis pigmentosa, SCAPER, NIHR Bioresource Rare Diseases Consortium, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/28q3v47sTest

المؤلفون: Li, Lin, Jiao, Xiaodong, D'Atri, Ilaria, Ono, Fumihito, Nelson, Ralph, Chan, Chi-Chao, Nakaya, Naoki, Ma, Zhiwei, Ma, Yan, Cai, Xiaoying, Zhang, Longhua, Lin, Siying, Hameed, Abdul, Chioza, Barry A, Hardy, Holly, Arno, Gavin, Hull, Sarah, Khan, Muhammad Imran, Fasham, James, Harlalka, Gaurav V, Michaelides, Michel, Moore, Anthony T, Coban Akdemir, Zeynep Hande, Jhangiani, Shalini, Lupski, James R, Cremers, Frans PM, Qamar, Raheel, Salman, Ahmed, Chilton, John, Self, Jay, Ayyagari, Radha, Kabir, Firoz, Naeem, Muhammad Asif, Ali, Muhammad, Akram, Javed, Sieving, Paul A, Riazuddin, Sheikh, Baple, Emma L, Riazuddin, S Amer, Crosby, Andrew H, Hejtmancik, J Fielding

المصدر: PLoS genetics. 14(8)

مصطلحات موضوعية: Retina, Cell Line, Cytoplasm, Animals, Mice, Knockout, Zebrafish, Humans, Mice, Retinitis Pigmentosa, Chloride Channels, Eye Proteins, Homozygote, Mutation, Missense, Asian Continental Ancestry Group, Pakistan, Retinal Rod Photoreceptor Cells, Retinal Cone Photoreceptor Cells, HEK293 Cells, Neurodegenerative, Eye Disease and Disorders of Vision, Genetics, Neurosciences, Rare Diseases, 2.1 Biological and endogenous factors, Eye, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0ps3f4k7Test

المؤلفون: Fasham, James, Huebner, Antje K., Liebmann, Lutz, Khalaf-Nazzal, Reham, Maroofian, Reza, Kryeziu, Nderim, Wortmann, Saskia B., Leslie, Joseph S., Ubeyratna, Nishanka, Mancini, Grazia M.S., van Slegtenhorst, Marjon, Wilke, Martina, Haack, Tobias B., Shamseldin, Hanan E., Gleeson, Joseph G., Almuhaizea, Mohamed, Dweikat, Imad, Abu-Libdeh, Bassam, Daana, Muhannad, Zaki, Maha S., Wakeling, Matthew N., McGavin, Lucy, Turnpenny, Peter D., Alkuraya, Fowzan S., Houlden, Henry, Schlattmann, Peter, Kaila, Kai, Crosby, Andrew H., Baple, Emma L., Hübner, Christian A.

المصدر: Fasham , J , Huebner , A K , Liebmann , L , Khalaf-Nazzal , R , Maroofian , R , Kryeziu , N , Wortmann , S B , Leslie , J S , Ubeyratna , N , Mancini , G M S , van Slegtenhorst , M , Wilke , M , Haack , T B , Shamseldin , H E , Gleeson , J G , Almuhaizea , M , Dweikat , I , Abu-Libdeh , B , Daana , M , Zaki , M S , Wakeling , M N , McGavin , L , ....

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/397e68a8-7ec4-4486-b3a2-2d121f649fceTest

الإتاحة: https://doi.org/10.1093/brain/awad235Test
https://pure.eur.nl/en/publications/397e68a8-7ec4-4486-b3a2-2d121f649fceTest
https://pure.eur.nl/ws/files/119321795/awad235.pdfTest
http://www.scopus.com/inward/record.url?scp=85171576785&partnerID=8YFLogxKTest

المؤلفون: Levitin, Maria O., Rawlins, Lettie E., Sanchez-Andrade, Gabriela, Arshad, Osama A., Collins, Stephan C., Sawiak, Stephen J., Iffland, Phillip H., Andersson, Malin H.L., Bupp, Caleb, Cambridge, Emma L., Coomber, Eve L., Ellis, Ian, Herkert, Johanna C., Ironfield, Holly, Jory, Logan, Kretz, Perrine F., Kant, Sarina G., Neaverson, Alexandra, Nibbeling, Esther, Rowley, Christine, Relton, Emily, Sanderson, Mark, Scott, Ethan M., Stewart, Helen, Shuen, Andrew Y., Schreiber, John, Tuck, Liz, Tonks, James, Terkelsen, Thorkild, van Ravenswaaij-Arts, Conny, Vasudevan, Pradeep, Wenger, Olivia, Wright, Michael, Day, Andrew, Hunter, Adam, Patel, Minal, Lelliott, Christopher J., Crino, Peter B., Yalcin, Binnaz, Crosby, Andrew H., Baple, Emma L., Logan, Darren W., Hurles, Matthew E., Gerety, Sebastian S.

المصدر: Levitin , M O , Rawlins , L E , Sanchez-Andrade , G , Arshad , O A , Collins , S C , Sawiak , S J , Iffland , P H , Andersson , M H L , Bupp , C , Cambridge , E L , Coomber , E L , Ellis , I , Herkert , J C , Ironfield , H , Jory , L , Kretz , P F , Kant , S G , Neaverson , A , Nibbeling , E , Rowley , C , Relton , E , Sanderson , ....

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/f5a368fb-89ee-45a5-885b-184eae7e2e73Test

الإتاحة: https://doi.org/10.1093/brain/awad231Test
https://pure.eur.nl/en/publications/f5a368fb-89ee-45a5-885b-184eae7e2e73Test
https://pure.eur.nl/ws/files/119323951/awad231.pdfTest
http://www.scopus.com/inward/record.url?scp=85176495009&partnerID=8YFLogxKTest

المؤلفون: Marwan, Muhammad, Dawood, Muhammad, Ullah, Mukhtar, Shah, Irfan Ullah, Khan, Niamat, Hassan, Muhammad Taimur, Karam, Muhammad, Rawlins, Lettie E., Baple, Emma L, Crosby, Andrew H., Saleha, Shamim

المصدر: BMC Ophthalmology ; volume 23, issue 1 ; ISSN 1471-2415

مصطلحات موضوعية: Ophthalmology, General Medicine

الإتاحة: https://doi.org/10.1186/s12886-023-02948-8Test

المؤلفون: Rawlins, Lettie Eleanor, Almousa, Hashem, Khan, Shazia, Collins, Stephan C, Milev, Miroslav P, Leslie, Joseph S, Saint-Dic, Djenann, Hincapie, Ana Maria, Harlalka, Gaurav V, Vancollie, Valerie E, Lelliott, Christopher J, Gul, Asma, Yalcin, Binnaz, Crosby, Andrew H, Sacher, Michael, Baple, Emma L

وصف الملف: application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/341481Test

الإتاحة: https://doi.org/10.17863/CAM.88908Test
https://www.repository.cam.ac.uk/handle/1810/341481Test