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Published in Nature communications (08.04.2020)
Published in Nature communications (08.04.2020)
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Cardiac Investigations in Sudden Unexpected Death in DEPDC5-Related Epilepsy
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Published in Annals of neurology (01.01.2022)
Published in Annals of neurology (01.01.2022)
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Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation
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Published in Journal of medical genetics (01.04.2022)
Published in Journal of medical genetics (01.04.2022)
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Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis
Owen, Nicholas, Toms, Maria, Young, Rodrigo M., Eintracht, Jonathan, Sarkar, Hajrah, Brooks, Brian P., Moosajee, Mariya, Ambrose, J.C., Baple, E.L., Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Caulfield, M.J., Chan, G.C., Craig, C.E.H., Daugherty, L.C., de, Burca A., Devereau, A., Elgar, G., Foulger, R.E., Fowler, T., Furió-Tarí, P., Hackett, J.M., Halai, D., Holman, J.E., Hubbard, T.J.P., Jackson, R., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lawson, K., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., Mason, J., McDonagh, E.M., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., Odhams, C.A., Patch, C., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Sosinsky, A., Spooner, W., Stevens, H.E., Stuckey, A., Sultana, R., Thomas, E.R.A., Thompson, S.R., Tregidgo, C., Tucci, A., Walsh, E., Watters, S.A., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M.
Published in Genetics in medicine (01.05.2022)
Published in Genetics in medicine (01.05.2022)
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Secondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2
Hong, Ying, Nanthapisal, Sira, Omoyinmi, Ebun, Olbrich, Peter, Neth, Olaf, Speckmann, Carsten, Lucena, Jose Manuel, Gilmour, Kimberly, Worth, Austen, Klein, Nigel, Eleftheriou, Despina, Brogan, Paul
Published in Frontiers in immunology (11.11.2019)
Published in Frontiers in immunology (11.11.2019)
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Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization
Wang, Haicui, Salter, Claire G, Refai, Osama, Hardy, Holly, Barwick, Katy E S, Akpulat, Ugur, Kvarnung, Malin, Chioza, Barry A, Harlalka, Gaurav, Taylan, Fulya, Sejersen, Thomas, Wright, Jane, Zimmerman, Holly H, Karakaya, Mert, Stüve, Burkhardt, Weis, Joachim, Schara, Ulrike, Russell, Mark A, Abdul-Rahman, Omar A, Chilton, John, Blakely, Randy D, Baple, Emma L, Cirak, Sebahattin, Crosby, Andrew H
Published in Brain (London, England : 1878) (01.11.2017)
Published in Brain (London, England : 1878) (01.11.2017)
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