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Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...American journal of human genetics, 2014-08, Vol.95 (2), p.218-226
2014
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BMC ophthalmology, 2020-02, Vol.20 (1), p.68-68, Article 68
2020
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Annals of clinical and translational neurology, 2020-03, Vol.7 (3), p.353-362
- Beecroft, Sarah J.
- Yau, Kyle S.
- Allcock, Richard J. N.
- Mina, Kym
- Gooding, Rebecca
- Faiz, Fathimath
- Atkinson, Vanessa J.
- Wise, Cheryl
- Sivadorai, Padma
- Trajanoski, Daniel
- Kresoje, Nina
- Ong, Royston
- Duff, Rachael M.
- Cabrera‐Serrano, Macarena
- Nowak, Kristen J.
- Pachter, Nicholas
- Ravenscroft, Gianina
- Lamont, Phillipa J.
- Davis, Mark R.
- Laing, Nigel G.
2020
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Annals of neurology, 2018-06, Vol.83 (6), p.1105-1124
- Oates, Emily C.
- Jones, Kristi J.
- Donkervoort, Sandra
- Charlton, Amanda
- Brammah, Susan
- Smith, John E.
- Ware, James S.
- Yau, Kyle S.
- Swanson, Lindsay C.
- Whiffin, Nicola
- Peduto, Anthony J.
- Bournazos, Adam
- Waddell, Leigh B.
- Farrar, Michelle A.
- Sampaio, Hugo A.
- Teoh, Hooi Ling
- Lamont, Phillipa J.
- Mowat, David
- Fitzsimons, Robin B.
- Corbett, Alastair J.
- Ryan, Monique M.
- O'Grady, Gina L.
- Sandaradura, Sarah A.
- Ghaoui, Roula
- Joshi, Himanshu
- Marshall, Jamie L.
- Nolan, Melinda A.
- Kaur, Simranpreet
- Punetha, Jaya
- Töpf, Ana
- Harris, Elizabeth
- Bakshi, Madhura
- Genetti, Casie A.
- Marttila, Minttu
- Werlauff, Ulla
- Streichenberger, Nathalie
- Pestronk, Alan
- Mazanti, Ingrid
- Pinner, Jason R.
- Vuillerot, Carole
- Grosmann, Carla
- Camacho, Ana
- Mohassel, Payam
- Leach, Meganne E.
- Foley, A. Reghan
- Bharucha‐Goebel, Diana
- Collins, James
- Connolly, Anne M.
- Gilbreath, Heather R.
- Iannaccone, Susan T.
- Castro, Diana
- Cummings, Beryl B.
- Webster, Richard I.
- Lazaro, Leïla
- Vissing, John
- Coppens, Sandra
- Deconinck, Nicolas
- Luk, Ho‐Ming
- Thomas, Neil H.
- Foulds, Nicola C.
- Illingworth, Marjorie A.
- Ellard, Sian
- McLean, Catriona A.
- Phadke, Rahul
- Ravenscroft, Gianina
- Witting, Nanna
- Hackman, Peter
- Richard, Isabelle
- Cooper, Sandra T.
- Kamsteeg, Erik‐Jan
- Hoffman, Eric P.
- Bushby, Kate
- Straub, Volker
- Udd, Bjarne
- Ferreiro, Ana
- North, Kathryn N.
- Clarke, Nigel F.
- Lek, Monkol
- Beggs, Alan H.
- Bönnemann, Carsten G.
- MacArthur, Daniel G.
- Granzier, Henk
- Davis, Mark R.
- Laing, Nigel G.
2018
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American journal of human genetics, 2013-07, Vol.93 (1), p.6-18
- Ravenscroft, Gianina
- Miyatake, Satoko
- Lehtokari, Vilma-Lotta
- Todd, Emily J.
- Vornanen, Pauliina
- Yau, Kyle S.
- Hayashi, Yukiko K.
- Miyake, Noriko
- Tsurusaki, Yoshinori
- Doi, Hiroshi
- Saitsu, Hirotomo
- Osaka, Hitoshi
- Yamashita, Sumimasa
- Ohya, Takashi
- Sakamoto, Yuko
- Koshimizu, Eriko
- Imamura, Shintaro
- Yamashita, Michiaki
- Ogata, Kazuhiro
- Shiina, Masaaki
- Bryson-Richardson, Robert J.
- Vaz, Raquel
- Ceyhan, Ozge
- Brownstein, Catherine A.
- Swanson, Lindsay C.
- Monnot, Sophie
- Romero, Norma B.
- Amthor, Helge
- Kresoje, Nina
- Sivadorai, Padma
- Kiraly-Borri, Cathy
- Haliloglu, Goknur
- Talim, Beril
- Orhan, Diclehan
- Kale, Gulsev
- Charles, Adrian K.
- Fabian, Victoria A.
- Davis, Mark R.
- Lammens, Martin
- Sewry, Caroline A.
- Manzur, Adnan
- Muntoni, Francesco
- Clarke, Nigel F.
- North, Kathryn N.
- Bertini, Enrico
- Nevo, Yoram
- Willichowski, Ekkhard
- Silberg, Inger E.
- Topaloglu, Haluk
- Beggs, Alan H.
- Allcock, Richard J.N.
- Nishino, Ichizo
- Wallgren-Pettersson, Carina
- Matsumoto, Naomichi
- Laing, Nigel G.
2013
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Orphanet journal of rare diseases, 2015-11, Vol.10 (148), p.148-148, Article 148
- Todd, Emily J
- Yau, Kyle S
- Ong, Royston
- Slee, Jennie
- McGillivray, George
- Barnett, Christopher P
- Haliloglu, Goknur
- Talim, Beril
- Akcoren, Zuhal
- Kariminejad, Ariana
- Cairns, Anita
- Clarke, Nigel F
- Freckmann, Mary-Louise
- Romero, Norma B
- Williams, Denise
- Sewry, Caroline A
- Colley, Alison
- Ryan, Monique M
- Kiraly-Borri, Cathy
- Sivadorai, Padma
- Allcock, Richard J N
- Beeson, David
- Maxwell, Susan
- Davis, Mark R
- Laing, Nigel G
- Ravenscroft, Gianina
2015
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American journal of human genetics, 2013-12, Vol.93 (6), p.1108-1117
- Gupta, Vandana A.
- Ravenscroft, Gianina
- Shaheen, Ranad
- Todd, Emily J.
- Swanson, Lindsay C.
- Shiina, Masaaki
- Ogata, Kazuhiro
- Hsu, Cynthia
- Clarke, Nigel F.
- Darras, Basil T.
- Farrar, Michelle A.
- Hashem, Amal
- Manton, Nicholas D.
- Muntoni, Francesco
- North, Kathryn N.
- Sandaradura, Sarah A.
- Nishino, Ichizo
- Hayashi, Yukiko K.
- Sewry, Caroline A.
- Thompson, Elizabeth M.
- Yau, Kyle S.
- Brownstein, Catherine A.
- Yu, Timothy W.
- Allcock, Richard J.N.
- Davis, Mark R.
- Wallgren-Pettersson, Carina
- Matsumoto, Naomichi
- Alkuraya, Fowzan S.
- Laing, Nigel G.
- Beggs, Alan H.
2013
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American journal of human genetics, 2010-12, Vol.87 (6), p.842-847
- Sambuughin, Nyamkhishig
- Yau, Kyle S.
- Olivé, Montse
- Duff, Rachael M.
- Bayarsaikhan, Munkhuu
- Lu, Shajia
- Gonzalez-Mera, Laura
- Sivadorai, Padma
- Nowak, Kristen J.
- Ravenscroft, Gianina
- Mastaglia, Frank L.
- North, Kathryn N.
- Ilkovski, Biljana
- Kremer, Hannie
- Lammens, Martin
- van Engelen, Baziel G.M.
- Fabian, Vicki
- Lamont, Phillipa
- Davis, Mark R.
- Laing, Nigel G.
- Goldfarb, Lev G.
2010
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Journal of neurology, neurosurgery and psychiatry, 2014-09, Vol.85 (9), p.1058-1060
2014
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Neuromuscular disorders : NMD, 2013-02, Vol.23 (2), p.165-169
2013
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American journal of human genetics, 2011-01, Vol.88 (1), p.122-122
- Sambuughin, Nyamkhishig
- Yau, Kyle S.
- Olivé, Montse
- Duff, Rachael M.
- Bayarsaikhan, Munkhuu
- Lu, Shajia
- Gonzalez-Mera, Laura
- Sivadorai, Padma
- Nowak, Kristen J.
- Ravenscroft, Gianina
- Mastaglia, Frank L.
- North, Kathryn N.
- Ilkovski, Biljana
- Kremer, Hannie
- Lammens, Martin
- van Engelen, Baziel G.M.
- Fabian, Vicki
- Lamont, Phillipa
- Davis, Mark R.
- Laing, Nigel G.
- Goldfarb, Lev G.
2011
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Muscle Disease, 2013, p.252-253
2013
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Nature (London), 2020-02, Vol.578 (7793), p.94-101
- Alexandrov, Ludmil B.
- Kim, Jaegil
- Haradhvala, Nicholas J.
- Huang, Mi Ni
- Tian Ng, Alvin Wei
- Wu, Yang
- Boot, Arnoud
- Covington, Kyle R.
- Gordenin, Dmitry A.
- Bergstrom, Erik N.
- Islam, S. M. Ashiqul
- Lopez-Bigas, Nuria
- Klimczak, Leszek J.
- McPherson, John R.
- Morganella, Sandro
- Sabarinathan, Radhakrishnan
- Wheeler, David A.
- Mustonen, Ville
- Getz, Gad
- Rozen, Steven G.
- Stratton, Michael R.
2020
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BMC genomics, 2015-12, Vol.16 (1113), p.1109-1109, Article 1109
2015
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