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Journal of inherited metabolic disease, 2014-07, Vol.37 (4), p.577-585
2014
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Orphanet journal of rare diseases, 2013-12, Vol.8 (1), p.188-188, Article 188
2013
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Journal of inherited metabolic disease, 2015-05, Vol.38 (3), p.387-388
2015
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Brain (London, England : 1878), 2015-12, Vol.138 (Pt 12), p.3503-3519
- Oláhová, Monika
- Hardy, Steven A
- Hall, Julie
- Yarham, John W
- Haack, Tobias B
- Wilson, William C
- Alston, Charlotte L
- He, Langping
- Aznauryan, Erik
- Brown, Ruth M
- Brown, Garry K
- Morris, Andrew A M
- Mundy, Helen
- Broomfield, Alex
- Barbosa, Ines A
- Simpson, Michael A
- Deshpande, Charu
- Moeslinger, Dorothea
- Koch, Johannes
- Stettner, Georg M
- Bonnen, Penelope E
- Prokisch, Holger
- Lightowlers, Robert N
- McFarland, Robert
- Chrzanowska-Lightowlers, Zofia M A
- Taylor, Robert W
2015
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Orphanet journal of rare diseases, 2013-07, Vol.8 (1), p.96-96, Article 96
- Wedatilake, Yehani
- Brown, Ruth M
- McFarland, Robert
- Yaplito-Lee, Joy
- Morris, Andrew A M
- Champion, Mike
- Jardine, Phillip E
- Clarke, Antonia
- Thorburn, David R
- Taylor, Robert W
- Land, John M
- Forrest, Katharine
- Dobbie, Angus
- Simmons, Louise
- Aasheim, Erlend T
- Ketteridge, David
- Hanrahan, Donncha
- Chakrapani, Anupam
- Brown, Garry K
- Rahman, Shamima
2013
Link zum Volltext
Journal of medical genetics, 2016-11, Vol.53 (11), p.768-775
- Ng, Yi Shiau
- Alston, Charlotte L
- Diodato, Daria
- Morris, Andrew A
- Ulrick, Nicole
- Kmoch, Stanislav
- Houštěk, Josef
- Martinelli, Diego
- Haghighi, Alireza
- Atiq, Mehnaz
- Gamero, Montserrat Anton
- Garcia-Martinez, Elena
- Kratochvílová, Hana
- Santra, Saikat
- Brown, Ruth M
- Brown, Garry K
- Ragge, Nicola
- Monavari, Ahmad
- Pysden, Karen
- Ravn, Kirstine
- Casey, Jillian P
- Khan, Arif
- Chakrapani, Anupam
- Vassallo, Grace
- Simons, Cas
- McKeever, Karl
- O'Sullivan, Siobhan
- Childs, Anne-Marie
- Østergaard, Elsebet
- Vanderver, Adeline
- Goldstein, Amy
- Vogt, Julie
- Taylor, Robert W
- McFarland, Robert
2016
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European journal of human genetics : EJHG, 2014-11, Vol.22 (11), p.1255-1259
2014
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European journal of human genetics : EJHG, 2015-07, Vol.23 (7), p.935-939
2015
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Human genetics, 2019-12, Vol.138 (11-12), p.1313-1322
- Horga, Alejandro
- Woodward, Catherine E.
- Mills, Alberto
- Pareés, Isabel
- Hargreaves, Iain P.
- Brown, Ruth M.
- Bugiardini, Enrico
- Brooks, Tony
- Manole, Andreea
- Remzova, Elena
- Rahman, Shamima
- Reilly, Mary M.
- Houlden, Henry
- Sweeney, Mary G.
- Brown, Garry K.
- Polke, James M.
- Gago, Federico
- Parton, Matthew J.
- Pitceathly, Robert D. S.
- Hanna, Michael G.
2019
Link zum Volltext
Brain (London, England : 1878), 2014-02, Vol.137 (Pt 2), p.366-379
- BAKER, Peter R
- FRIEDERICH, Marisa W
- LEE, Wang-Tso
- DESHPANDE, Charu
- FRECKMANN, Mary-Louise
- SHIH, Ling-Yu
- WASSERSTEIN, Melissa
- RASMUSSEN, Malene B
- LUND, Allan M
- PROCOPIS, Peter
- CAMERON, Jessie M
- ROBINSON, Brian H
- SWANSON, Michael A
- BROWN, Garry K
- BROWN, Ruth M
- COMPTON, Alison G
- DIECKMANN, Carol L
- COLLARD, Renata
- COUGHLIN, Curtis R
- SPECTOR, Elaine
- WEMPE, Michael F
- VAN HOVE, Johan L. K
- SHAIKH, Tamim
- BHATTACHARYA, Kaustuv
- SCHARER, Gunter H
- AICHER, Joseph
- CREADON-SWINDELL, Geralyn
- GEIGER, Elizabeth
- MACLEAN, Kenneth N
2014
Link zum Volltext
Journal of neuropathology and experimental neurology, 2015-07, Vol.74 (7), p.688-703
2015
Link zum Volltext
Human mutation, 2013-10, Vol.34 (10), p.1366-1370
2013
Link zum Volltext
Molecular genetics and metabolism reports, 2020-12, Vol.25, p.100657-100657, Article 100657
2020
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Nature genetics, 1998-12, Vol.20 (4), p.337-343
1998
Link zum Volltext
Human molecular genetics, 2008-08, Vol.17 (16), p.2496-2506
2008
Link zum Volltext
Annals of neurology, 2005-08, Vol.58 (2), p.234-241
2005
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2014, 2014
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Developmental medicine and child neurology, 2012-05, Vol.54 (5), p.395-396
2012
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Journal of physical organic chemistry, 2011-12, Vol.24 (12), p.1144-1150
2011
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2013, 2013
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Developmental medicine and child neurology, 2012-05, Vol.54 (5), p.395-396
2012
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Human genetics, 2008-09, Vol.124 (2), p.187-193
2008
Link zum Volltext
Journal of turbulence, 2012-01, Vol.13 (13), p.N51
2012
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2015, 2014
Link zum Volltext
JIMD Reports, Volume 15, 2015, Vol.15, p.13-27
2015
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