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Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 4, pp. 1368 - 1371
Journal Article
Human Mutation, ISSN 1059-7794, 2013, Volume 34, Issue 12, pp. 1721 - 1726
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 05/2015, Volume 52, Issue 5, pp. 330 - 337
Journal Article
Nature Genetics, ISSN 1061-4036, 2012, Volume 44, Issue 5, pp. 581 - 585
Journal Article
Developmental Medicine and Child Neurology, ISSN 0012-1622, 2016, Volume 58, Issue 12, pp. 1317 - 1322
Inherited aberrancies in intracellular vesicular transport are associated with a variety of neurological and non-neurological diseases. RUSC2 is a gene found... 
VESICULAR TRANSPORT | DISORDERS | PEDIATRICS | PROTEINS | CLINICAL NEUROLOGY | GENES | Microcephaly - genetics | Muscle Hypotonia - genetics | Humans | Male | Intellectual Disability - genetics | Carrier Proteins - genetics | Pedigree | Agenesis of Corpus Callosum - genetics | Adolescent | Epilepsy - genetics | Female | Mutation | Child
Journal Article
by Meyer, E and Carss, K.J and Rankin, J and Nichols, J.M and Grozeva, D and Joseph, A.P and Mencacci, N.E and Papaneou, A and Ng, J and Barral, S and Ngoh, A and Ben-Pazi, H and Willemsen, M.A and Arkadir, D and Barnicoat, A and Bergman, H and Bhate, S and Boys, A and Darin, N and Foulds, N and Gutowski, N and Hills, A and Houlden, H and Hurst, J.A and Israel, Z and Kaminska, M and Limousin, P and Lumsden, D and McKee, S and Misra, S and Mohammed, S.S and Nakou, V and Nicolai, J and Nilsson, M and Pall, H and Peall, K.J and Peters, G.B and Prabhakar, P and Reuter, M.S and Rump, P and Segel, R and Sinnema, M and Smith, M and Turnpenny, P and White, S.M and Wieczorek, D and Wiethoff, S and Wilson, B.T and Winter, G and Wragg, C and Pope, S and Heales, S.J and Morrogh, D and Pittman, A and Carr, L.J and Perez-Duenas, B and Lin, J.P and Reis, A and Gahl, W.A and Toro, C and Bhatia, K.P and Wood, N.W and Kamsteeg, E.J and Chong, W.K and Gissen, P and Topf, M and Dale, R.C and Chubb, J.R and Raymond, F.L and Kurian, M.A and NIHR BioResource Rare and Deciphering Dev Disorders Study and UK10K Consortium and Deciphering Developmental Disorders Study and NIHR BioResource Rare Diseases Consortium and Sahlgrenska akademin and Institute of Clinical Sciences, Section for the Health of Women and Children, Department of Pediatrics and Göteborgs universitet and Gothenburg University and Institutionen för kliniska vetenskaper, sektionen för kvinnors och barns hälsa, Avdelningen för pediatrik and Sahlgrenska Academy
Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 2, pp. 223 - 237
Journal Article
Brain, ISSN 0006-8950, 2016, Volume 139, Issue 3, pp. 674 - 691
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2012, Volume 20, Issue 12, pp. 1203 - 1208
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2016, Volume 98, Issue 4, pp. 763 - 771
Journal Article