Search results
Human Mutation > 42 > 11 > 1384 - 1398
Orphanet Journal of Rare Diseases > 2019 > 14 > 1 > 1-10
BMC Medical Genetics > 2018 > 19 > 1 > 1-9
Orphanet Journal of Rare Diseases > 2018 > 13 > 1 > 1-11
Molecular Genetics and Metabolism > 2018 > 123 > 4 > 479-487
Orphanet Journal of Rare Diseases > 2017 > 12 > 1 > 1-8
Orphanet Journal of Rare Diseases > 2017 > 12 > 1 > 1-11
Molecular Genetics and Metabolism > 2017 > 120 > 1-2 > 78-95
Clinical Therapeutics > 2017 > 39 > 1 > 118-129.e3
Clinical Therapeutics > 2015 > 37 > 5 > 1012-1021.e6
Molecular Genetics and Metabolism > 2015 > 114 > 2 > 178-185
Molecular Genetics and Metabolism > 2015 > 114 > 2 > 186-194
Molecular Genetics and Metabolism > 2015 > 114 > 2 > 195-202
Molecular Genetics and Metabolism > 2014 > 111 > 2 > 205-208
Journal of Children's Orthopaedics > 2014 > 8 > 4 > 295-304
Molecular Genetics and Metabolism > 2013 > 110 > 1-2 > 54-64
Molecular Genetics and Metabolism > 2013 > 110 > 1-2 > 129-138
Molecular Genetics and Metabolism > 2013 > 109 > 3 > 301-311
Molecular Genetics and Metabolism > 2012 > 106 > 2 > 196-201
Clinica Chimica Acta > 2011 > 412 > 19-20 > 1805-1808