Search results
Human Mutation > 42 > 11 > 1384 - 1398
Orphanet Journal of Rare Diseases > 2019 > 14 > 1 > 1-25
Molecular Genetics and Metabolism > 2018 > 123 > 2 > 127-134
Journal of Applied Genetics > 2018 > 59 > 1 > 73-80
European Journal of Radiology > 2017 > 93 > C > 128-133
Orphanet Journal of Rare Diseases > 2017 > 12 > 1 > 1-11
Molecular Genetics and Metabolism > 2016 > 119 > 1-2 > 131-143
Molecular Genetics and Metabolism > 2016 > 117 > 2 > 150-156
Molecular Genetics and Metabolism > 2016 > 117 > 2 > 84-94
Clinical Therapeutics > 2015 > 37 > 9 > 2130-2134
BBA - Molecular Basis of Disease > 2015 > 1852 > 5 > 1012-1019
Molecular Genetics and Metabolism > 2015 > 114 > 2 > 178-185
Molecular Genetics and Metabolism > 2012 > 105 > 3 > 438-442
Molecular Genetics and Metabolism > 2006 > 87 > 3 > 213-218