Wyniki wyszukiwania dla: Lourdes R. Desviat
Clinical Genetics > 101 > 5-6 > 481 - 493
Human Mutation > 41 > 7 > 1329 - 1338
Orphanet Journal of Rare Diseases > 2018 > 13 > 1 > 1-12
Biochemical Genetics > 2018 > 56 > 5 > 533-541
Molecular Genetics and Metabolism > 2017 > 122 > 1-2 > 43-50
Stem Cell Research > 2017 > 23 > C > 173-177
Journal of Inherited Metabolic Disease > 2017 > 40 > 4 > 471-480
Human Mutation > 38 > 2 > 160 - 168
BBA - Molecular Basis of Disease > 2015 > 1852 > 12 > 2712-2721
Data in Brief > 2015 > 5 > C > 810-817
Human Mutation > 36 > 9 > 851 - 860
Biochemical and Biophysical Research Communications > 2014 > 452 > 3 > 457-461
Orphanet Journal of Rare Diseases > 2014 > 9 > 1 > 1-12
Developmental Medicine & Child Neurology > 55 > 6 > 559 - 566
Human Mutation > 34 > 2 > 355 - 362
Journal of Cellular Biochemistry > 114 > 1 > 183 - 191
Journal of Inherited Metabolic Disease > 2013 > 36 > 5 > 731-740
European Journal of Paediatric Neurology > 2012 > 16 > 4 > 343-348
Human Mutation > 33 > 6 > 973 - 980