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1Academic Journal
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.
Thesis Advisors: Univ Arizona, Coll Med, Dept Ophthalmol
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2Academic Journal
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
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3Academic Journal
المؤلفون: Scott, Ethan M., Smith, Brandon, Liu, Joseph, Hoffman, Karlee, Hershberger, Jennifer, Crosby, Andew, Baple, Emma L., Wenger, Olivia K.
المصدر: Molecular Genetics and Metabolism Reports ; volume 41, page 101161 ; ISSN 2214-4269
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4Academic Journal
المؤلفون: D'Atri, Ilaria, Martin, Emily-Rose, Yang, Liming, Sears, Elizabeth, Baple, Emma, Crosby, Andrew H., Chilton, John K., Oguro-Ando, Asami
المصدر: D'Atri , I , Martin , E-R , Yang , L , Sears , E , Baple , E , Crosby , A H , Chilton , J K & Oguro-Ando , A 2024 , ' Unraveling the CLCC1 interactome: Impact of the Asp25Glu variant and its interaction with SigmaR1 at the Mitochondrial-Associated ER Membrane (MAM) ' , Neuroscience Letters , vol. 830 , 137778 . https://doi.org/10.1016/j.neulet.2024.137778
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5Academic Journal
المؤلفون: Ellard, Sian, Morgan, Sian, Wynn, Sarah L, Walker, Susan, Parrish, Andrew, Mein, Rachael, Juett, Ana, Ahn, Joo Wook, Berry, Ian, Cassidy, Emma-Jane, Durkie, Miranda, Fish, Louise, Hall, Richard, Howard, Emma, Rankin, Julia, Wright, Caroline F, Deans, Zandra C, Scott, Richard H, Hill, Sue L, Baple, Emma L, Taylor, Robert W
المساهمون: Medical Research Foundation
المصدر: Journal of Medical Genetics ; volume 61, issue 12, page 1103-1112 ; ISSN 0022-2593 1468-6244
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6Academic Journal
المؤلفون: McInnes-Dean, Hannah, Mellis, Rhiannon, Daniel, Morgan, Walton, Holly, Baple, Emma L, Bertoli, Marta, Fisher, Jane, Gajewska-Knapik, Katarzyna, Holder-Espinasse, Muriel, Lafarge, Caroline, Leeson-Beevers, Kerry, McEwan, Alec, Pandya, Pranav, Parker, Michael, Peet, Sophie, Roberts, Lauren, Sankaran, Srividhya, Smith, Audrey, Tapon, Dagmar, Wu, Wing Han, Wynn, Sarah L, Chitty, Lyn S, Hill, Melissa, Peter, Michelle
مصطلحات موضوعية: Medicine and health
وصف الملف: application/pdf
Relation: https://repository.uwl.ac.uk/id/eprint/11252/1/EXPRESS%20Parents%20paper%20-%20revised%20011223%20-%20Accepted%20version.pdf; https://repository.uwl.ac.uk/id/eprint/11252/7/Prenatal%20Diagnosis%20-%202024%20-%20McInnes%E2%80%90Dean%20-%20Something%20that%20helped%20the%20whole%20picture%20%20%20Experiences%20of%20parents%20offered%20rapid.pdf; McInnes-Dean, Hannah, Mellis, Rhiannon, Daniel, Morgan, Walton, Holly, Baple, Emma L, Bertoli, Marta, Fisher, Jane, Gajewska-Knapik, Katarzyna, Holder-Espinasse, Muriel, Lafarge, Caroline orcid:0000-0003-2148-078X , Leeson-Beevers, Kerry, McEwan, Alec, Pandya, Pranav, Parker, Michael, Peet, Sophie, Roberts, Lauren, Sankaran, Srividhya, Smith, Audrey, Tapon, Dagmar, Wu, Wing Han, Wynn, Sarah L, Chitty, Lyn S, Hill, Melissa and Peter, Michelle (2024) “Something that helped the whole picture”: Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service. Prenatal Diagnosis. ISSN 0197-3851
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7Academic Journal
المؤلفون: McVeigh, Terri Patricia, Lalloo, Fiona, Monahan, Kevin J, Latchford, Andrew, Durkie, Miranda, Mein, Rachael, Baple, Emma L, Hanson, Helen
مصطلحات موضوعية: Cancer genetics
وصف الملف: text/html
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8Academic Journal
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
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9Academic Journal
المؤلفون: Sala-Gaston, Joan, Pérez-Villegas, Eva M., Armengol, José A., Rawlins, Lettie E., Baple, Emma L., Crosby, Andrew H., Ventura, Francesc, Rosa, Jose Luis
المساهمون: Ministry of Economy and Competitiveness | Agencia Estatal de Investigación
المصدر: Cell Death Discovery ; volume 10, issue 1 ; ISSN 2058-7716
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10Academic Journal
المؤلفون: Peter, Michelle, Mellis, Rhiannon, McInnes-Dean, Hannah, Daniel, Morgan, Walton, Holly, Fisher, Jane, Leeson-Beevers, Kerry, Allen, Stephanie, Baple, Emma L., Beleza-Meireles, Ana, Bertoli, Marta, Campbell, Jennifer, Canham, Natalie, Cilliers, Deirdre, Cobben, Jan, Eason, Jacqueline, Harrison, Victoria, Holder-Espinasse, Muriel, Male, Alison, Mansour, Sahar, McEwan, Alec, Park, Soo-Mi, Smith, Audrey, Stewart, Alison, Tapon, Dagmar, Vasudevan, Pradeep, Williams, Denise, Wu, Wing Han, Chitty, Lyn S., Hill, Melissa
المصدر: Frontiers in Genetics ; volume 15 ; ISSN 1664-8021
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11Academic Journal
المؤلفون: Van Haute, Lindsey, Páleníková, Petra, Tang, Jia Xin, Nash, Pavel A, Simon, Mariella T, Pyle, Angela, Oláhová, Monika, Powell, Christopher A, Rebelo-Guiomar, Pedro, Stover, Alexander, Champion, Michael, Deshpande, Charulata, Baple, Emma L, Stals, Karen L, Ellard, Sian, Anselem, Olivia, Molac, Clémence, Petrilli, Giulia, Loeuillet, Laurence, Grotto, Sarah, Attie-Bitach, Tania, Abdenur, Jose E, Taylor, Robert W, Minczuk, Michal
مصطلحات موضوعية: Exome Sequencing, Lactic Acidosis, Mitochondrial Disease, RNA Processing, tRNA, Humans, RNA, Mitochondrial, Mitochondrial Diseases, Female, Male, Infant, Newborn, Post-Transcriptional, Pedigree, Fibroblasts, Mutation, Missense, Exoribonucleases
وصف الملف: application/pdf; application/zip; text/xml
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12Academic Journal
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
URL الوصول: https://escholarship.org/uc/item/28q3v47s
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13Academic Journal
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
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URL الوصول: https://escholarship.org/uc/item/0ps3f4k7
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14Academic Journal
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
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15Academic Journal
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
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16Academic Journal
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
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17Academic Journal
المؤلفون: Kammermeier, Jochen, Lamb, Christopher A, Jones, Kelsey D J, Anderson, Carl A, Baple, Emma L, Bolton, Chrissy, Braggins, Helen, Coulter, Tanya I, Gilmour, Kimberly C, Gregory, Vicki, Hambleton, Sophie, Hartley, David, Hawthorne, A Barney, Hearn, Sarah, Laurence, Arian, Parkes, Miles, Russell, Richard K, Speight, R Alexander, Travis, Simon, Wilson, David C, Uhlig, Holm H
المصدر: The Lancet Gastroenterology & Hepatology ; volume 8, issue 3, page 271-286 ; ISSN 2468-1253
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18Dissertation/ Thesis
المؤلفون: Baple, Emma Louise
Thesis Advisors: Crosby, Andrew Harry
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19Conference
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
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20Academic Journal
المؤلفون: Ahmed, Asif Naveed, Rawlins, Lettie E., Khan, Niamat, Jan, Zakir, Ubeyratna, Nishanka, Voutsina, Nikol, Azeem, Arfa, Khan, Saadullah, Baple, Emma L., Crosby, Andrew H., Saleha, Shamim
المصدر: BMC Neurology; 10/16/2024, Vol. 24 Issue 1, p1-11, 11p
مصطلحات موضوعية: MEDICAL genetics, MEDICAL genomics, MOTOR neuron diseases, GENETIC counseling, CEREBELLAR ataxia
مصطلحات جغرافية: PAKISTAN