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0469548 - FGÚ 2017 RIV GB eng J - Journal Article
Ng, Y. S. - Alston, Ch. L. - Diodato, D. - Morris, A. A. - Ulrick, N. - Kmoch, S. - Houštěk, Josef - Martinelli, D. - Haghighi, A. - Atiq, M. - Gamero, M. A. - Garcia-Martinez, E. - Kratochvílová, H. - Santra, S. - Brown, R. M. - Brown, G. K. - Ragge, N. - Monavari, A. - Pysden, K. - Ravn, K. - Casey, J. P. - Khan, A. - Chakrapani, A. - Vassallo, G. - Simons, C. - McKeever, K. - O´Sullivan, S. - Childs, A.-M. - Ostergaard, E. - Vanderver, A. - Goldstein, A. - Vogt, J. - Taylor, R. W. - McFarland, R.
The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.
Journal of Medical Genetics. Roč. 53, č. 11 (2016), s. 768-775. ISSN 0022-2593. E-ISSN 1468-6244
R&D Projects: GA ČR(CZ) GB14-36804G
Institutional support: RVO:67985823
Keywords : congenital sensorineural deafness * lactic acidosis * mitochondrial respiratory chain deficiencies * prognosis * renal disease
Subject RIV: EB - Genetics ; Molecular Biology
Impact factor: 5.451, year: 2016
Permanent Link: http://hdl.handle.net/11104/0267352