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

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URL الوصول: https://escholarship.org/uc/item/9g7991s4

المؤلفون: Zawerton, Ash, Mignot, Cyril, Sigafoos, Ashley, Blackburn, Patrick R, Haseeb, Abdul, McWalter, Kirsty, Ichikawa, Shoji, Nava, Caroline, Keren, Boris, Charles, Perrine, Marey, Isabelle, Tabet, Anne-Claude, Levy, Jonathan, Perrin, Laurence, Hartmann, Andreas, Lesca, Gaetan, Schluth-Bolard, Caroline, Monin, Pauline, Dupuis-Girod, Sophie, Guillen Sacoto, Maria J, Schnur, Rhonda E, Zhu, Zehua, Poisson, Alice, El Chehadeh, Salima, Alembik, Yves, Bruel, Ange-Line, Lehalle, Daphné, Nambot, Sophie, Moutton, Sébastien, Odent, Sylvie, Jaillard, Sylvie, Dubourg, Christèle, Hilhorst-Hofstee, Yvonne, Barbaro-Dieber, Tina, Ortega, Lucia, Bhoj, Elizabeth J, Masser-Frye, Diane, Bird, Lynne M, Lindstrom, Kristin, Ramsey, Keri M, Narayanan, Vinodh, Fassi, Emily, Willing, Marcia, Cole, Trevor, Salter, Claire G, Akilapa, Rhoda, Vandersteen, Anthony, Canham, Natalie, Rump, Patrick, Gerkes, Erica H, Klein Wassink-Ruiter, Jolien S, Bijlsma, Emilia, Hoffer, Mariëtte JV, Vargas, Marcelo, Wojcik, Antonina, Cherik, Florian, Francannet, Christine, Rosenfeld, Jill A, Machol, Keren, Scott, Daryl A, Bacino, Carlos A, Wang, Xia, Clark, Gary D, Bertoli, Marta, Zwolinski, Simon, Thomas, Rhys H, Akay, Ela, Chang, Richard C, Bressi, Rebekah, Sanchez Russo, Rossana, Srour, Myriam, Russell, Laura, Goyette, Anne-Marie E, Dupuis, Lucie, Mendoza-Londono, Roberto, Karimov, Catherine, Joseph, Maries, Nizon, Mathilde, Cogné, Benjamin, Kuechler, Alma, Piton, Amélie, Klee, Eric W, Lefebvre, Véronique, Clark, Karl J, Depienne, Christel

المصدر: Genetics in Medicine. 22(3)

مصطلحات موضوعية: Intellectual and Developmental Disabilities (IDD), Pediatric, Genetics, Brain Disorders, Clinical Research, Rare Diseases, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Animals, Child, Child, Preschool, DNA-Binding Proteins, Female, Genetic Predisposition to Disease, Haploinsufficiency, Humans, Infant, Intellectual Disability, Language Development Disorders, Male, Mutation, Missense, Neurodevelopmental Disorders, Pedigree, Phenotype, SOXD Transcription Factors, Young Adult, autism, developmental delay, intellectual disability, epilepsy, missense variants, Deciphering Developmental DisorderStudy, missense variants., Clinical Sciences, Genetics & Heredity

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URL الوصول: https://escholarship.org/uc/item/14x4x4wp

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

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URL الوصول: https://escholarship.org/uc/item/28q3v47s

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المؤلفون: Leslie, Joseph S., Rawlins, Lettie E.^{Aff1, Aff2}, Chioza, Barry A., Olubodun, Oluwaseun R., Salter, Claire G., Fasham, James^{Aff1, Aff2}, Jones, Hannah F., Cross, Harold E., Lam, Simon, Harlalka, Gaurav V., Muggenthaler, Martina M. A.^{Aff1, Aff4}, Crosby, Andrew H.^Aff1, Baple, Emma L.^{Aff1, Aff2}

المصدر: European Journal of Human Genetics. 28(1):50-55

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المؤلفون: Rickman, Olivia J., Salter, Claire G., Gunning, Adam C., Fasham, James, Voutsina, Nikol, Leslie, Joseph S., McGavin, Lucy, Cross, Harold E., Posey, Jennifer E., Akdemir, Zeynep Coban, Jhangiani, Shalini N., Lupski, James R., Baple, Emma L., Crosby, Andrew H.

المصدر: In Parkinsonism and Related Disorders January 2021 82:84-86

المؤلفون: Salter, Claire G., Beijer, Danique, Hardy, Holly, Barwick, Katy E. S., Bower, Matthew, Mademan, Inès, De Jonghe, Peter, Deconinck, Tine, Russell, Mark A., McEntagart, Meriel M., Chioza, Barry A., Blakely, Randy D., Chilton, John K., De Bleecker, Jan, Baets, Jonathan, Baple, Emma L., Walk, David, Crosby, Andrew H.

المصدر: NEUROLOGY-GENETICS
Neurology : Genetics

مصطلحات موضوعية: CONGENITAL MYASTHENIC SYNDROMES, Medicine and Health Sciences, LOCALIZATION, Human medicine, AFFINITY CHOLINE TRANSPORTER, NEUROMUSCULAR-JUNCTION

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3a91af5181edc4aeecec330c3e6ed805
https://openaccess.sgul.ac.uk/id/eprint/109826/1/e222.full.pdf

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المؤلفون: Ahmed, Mustafa Y., Al-Khayat, Aisha, Al-Murshedi, Fathiya, Al-Futaisi, Amna, Chioza, Barry A., Fernandez-Murray, J. Pedro, Self, Jay E., Salter, Claire G., Harlalka, Gaurav V., Rawlins, Lettie E., Al-Zuhaibi, Sana, Al-Azri, Faisal, Al-Rashdi, Fatma, Cazenave-Gassiot, Amaury, Wenk, Marcus R., Al-Salmi, Fatema, Patton, Michael A., Silver, David L., Baple, Emma L., McMaster, Christopher R., Crosby, Andrew H.

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______348::93066bafbe2ccd2f6daafcda5847e5cb
https://eprints.soton.ac.uk/403005/