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Scientific Reports, ISSN 2045-2322, 12/2017, Volume 7, Issue 1, pp. 16783 - 10
Hearing loss is the most common sensory disorder and because of its high genetic heterogeneity, implementation of Massively Parallel Sequencing (MPS) in... 
GENOTYPE-PHENOTYPE CORRELATION | VARIANTS | USHER-SYNDROME | FAMILIES | MULTIDISCIPLINARY SCIENCES | UPDATE | MUTATIONS | SYNDROMIC RECESSIVE DEAFNESS | ACTG1 | Hearing | USH2A protein | Copy number | Genes | Diagnosis | Rehabilitation | Hearing impairment | Genetic counselling | Genotypes | Hearing loss | Index Medicus | Life Sciences
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 11/2009, Volume 46, Issue 11, pp. 752 - 758
Journal Article
by Bello, Luca and Flanigan, Kevin M and Weiss, Robert B and Dunn, Diane M and Swoboda, Kathryn J and Gappmaier, Eduard and Howard, Michael T and Sampson, Jacinda B and Bromberg, Mark B and Butterfield, Russell and Kerr, Lynne and Pestronk, Alan and Florence, Julaine M and Connolly, Anne M and Connolly, Anne and Lopate, Glenn and Golumbek, Paul and Schierbecker, Jeanine and Malkus, Betsy and Renna, Renee and Siener, Catherine and Finkel, Richard S and Bonnemann, Carsten G and Medne, Livija and Glanzman, Allan M and Flickinger, Jean and Mendell, Jerry R and King, Wendy M and Lowes, Linda and Alfano, Lindsay and Mathews, Katherine D and Stephan, Carrie and Laubenthal, Karla and Baldwin, Kris and Wong, Brenda and Morehart, Paula and Meyer, Amy and Day, John W and Naughton, Cameron E and Margolis, Marcia and Spitali, Pietro and Aartsma-Rus, Annemieke and Muntoni, Francesco and Zaharieva, Irina and Ferlini, Alessandra and Mercuri, Eugenio and Tuffery-Giraud, Sylvie and Claustres, Mireille and Straub, Volker and Lochmüller, Hanns and Barp, Andrea and Vianello, Sara and Pegoraro, Elena and Punetha, Jaya and Gordish-Dressman, Heather and Giri, Mamta and McDonald, Craig M and Hoffman, Eric P and Cnaan, Avital and Abresch, Richard T and Henricson, Erik K and Morgenroth, Lauren P and Duong, Tina and Chidambaranathan, V. Viswanathan and Biggar, W. Douglas and McAdam, Laura C and Mah, Jean and Tulinius, Mar and Leshner, Robert and Rocha, Carolina Tesi and Thangarajh, Mathula and Kornberg, Andrew and Ryan, Monique and Nevo, Yoram and Dubrovsky, Alberto and Clemens, Paula R and Abdel-Hamid, Hoda and Teasley, Jean and Bertorini, Tulio E and North, Kathryn and Webster, Richard and Kolski, Hanna and Kuntz, Nancy and Driscoll, Sherilyn and Carlo, Jose and Gorni, Ksenija and Lotze, Timothy and Karachunski, Peter and Bodensteiner, John B and Cooperative Int Neuromuscular Res and United Dystrophinopathy Project and Cooperative International Neuromuscular Research Group
The American Journal of Human Genetics, ISSN 0002-9297, 11/2016, Volume 99, Issue 5, pp. 1163 - 1171
Journal Article
by Kaput, J and Cotton, R.G and Hardman, L and Watson, M and Aqeel, A.I. Al and Al-Aama, J.Y and Al-Mulla, F and Alonso, S and Aretz, S and Auerbach, A.D and Bapat, B and Bernstein, I.T and Bhak, J and Bleoo, S.L and Blocker, H and Brenner, S.E and Burn, J and Bustamante, M and Calzone, R and Cambon-Thomsen, A and Cargill, M and Carrera, P and Cavedon, L and Cho, Y.S and Chung, Y.J and Claustres, M and Cutting, G and Dalgleish, R and Dunnen, J.T. den and Diaz, C and Dobrowolski, S and Santos, M.R. dos and Ekong, R and Flanagan, S.B and Flicek, P and Furukawa, Y and Genuardi, M and Ghang, H and Golubenko, M.V and Greenblatt, M.S and Hamosh, A and Hancock, J.M and Hardison, R and Harrison, T.M and Hoffmann, R and Horaitis, R and Howard, H.J and Barash, C.I and Izagirre, N and Jung, J and Kojima, T and Laradi, S and Lee, Y.S and Lee, J.Y and Gil-da-Silva-Lopes, V.L and Macrae, F.A and Maglott, D and Marafie, M.J and Marsh, S.G and Matsubara, Y and Messiaen, L.M and Moslein, G and Netea, M.G and Norton, M.L and Oefner, P.J and Oetting, W.S and O'Leary, J.C and Ramirez, A.M. de and Paalman, M.H and Parboosingh, J and Patrinos, G.P and Perozzi, G and Phillips, I.R and Povey, S and Prasad, S and Qi, M and Quin, D.J and Ramesar, R.S and Richards, C.S and Savige, J and Scheible, D.G and Scott, R.J and Seminara, D and Shephard, E.A and Sijmons, R.H and Smith, T.D and Sobrido, M.J and Tanaka, T and Tavtigian, S.V and Taylor, G.R and Teague, J and Topel, T and Ullman-Cullere, M and Utsunomiya, J and Kranen, H.J. van and Vihinen, M and Webb, E and Weber, T.K and Yeager, M and Human Variome Project Planning and Contributors to the Human Variome Project Planning Meeting and on behalf of contributors to the Human Variome Project Planning Meeting
Human Mutation, ISSN 1059-7794, 2009, Volume 30, Issue 4, pp. 496 - 510
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 01/2009, Volume 17, Issue 1, pp. 51 - 65
Journal Article
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 10/2015, Volume 86, Issue 10, pp. 1060 - 1065
Journal Article
Human Mutation, ISSN 1059-7794, 11/2013, Volume 34, Issue 11, pp. 1449 - 1457
Journal Article
Journal Article
by de Vette, Ivar and Lombardo, Angelo and Berkhout, Ben and Vervoordeldonk, Margriet and Dekkers, Johanna F and Kruisselbrink, Evelien and Vonk, Annelotte M and de Jonge, Hugo R and de Winter, Karin M and de Groot, – and Janssens, Hettie M and Bronsveld, Inez and Nieuwenhuis, Edward E.S and Houwen, Roderick H.J and Vleggaar, Frank P and Escher, Hankje C and Clevers, Hans and van der Ent, Cornelis K and Buckland, Karen and Rivat, Christine and Himoudi, Nourredine and Gilmour, Kimberly and Booth, Claire and Cornetta, Kenneth and Kohn, Don B and Carbonaro, Denise and Paruzynski, Anna and Schmidt, Manfred and Thrasher, Adrian J and Schaffer, David and Hwang, Tae-Ho and Zinn, E and Khaychuk, V and Sarkar, D and Carvalho, L and Pacouret, S and Morris, H and Plovie, E and van Gent, Michiel and Gram, Anna and Boer, Ingrid and Horst, Danielle and Zaldumbide, Arnaud and Hoeben, Rob and Wiertz, Emmanuel and Maring, J and Smits, AM and Ouyang, Hong and Lin, Ying and Wang, Yujuan and Cai, Humim and Li, Gen and Patel, Sherrina and Zhu, Jie and Lin, Danni and Wen, Cindy and Zhu, Jin and Tsaalbi-Shtylik, Anastasia and Martín-Pardillos, Ana and Ferras, Cristina and Verspuy, Johan and Speksnijder, Ewoud and Jansen, Jacob and Peng, Kah Whye and Federspiel, Mark and Naik, Shruthi and Ruiz, Autumn and Lacy, Martha and Dispenzieri, Angela and O'Donovan, Liz and Arzumanov, Andrey A and Rahim, A.A and Burke, D.G and Buckley, S.M and Cullen, E and Mukherji, S and Mills, K and Sirka, E and Herbert, B and Karlsson, S and Hughes, D.A and Mehta, A.B and Howe, S.J and Heales, S and Cooper, J.D and Cheng, S.H and van Til, Niek P and Liang, Q and Stok, M and Wagemaker, G and Reiss, Ulrike M and Tuddenham, Edward G.D and Nienhuis, Arthur W and Davidoff, Andrew M and Meneghini, V and Lattanzi, A and Tiradani, L and Bravo, G and Morena, F and Martino, S and ...
Human Gene Therapy, ISSN 1043-0342, 11/2014, Volume 25, Issue 11, pp. A1 - A121
Journal Article