Search results
Human Mutation > 42 > 11 > 1384 - 1398
Orphanet Journal of Rare Diseases > 2019 > 14 > 1 > 1-25
Journal of Labelled Compounds and Radiopharmaceuticals > 62 > 2 > 67 - 76
Molecular Genetics and Metabolism > 2018 > 123 > 2 > 127-134
Orphanet Journal of Rare Diseases > 2017 > 12 > 1 > 1-11
Molecular Genetics and Metabolism > 2016 > 118 > 2 > 111-122
Molecular Genetics and Metabolism > 2015 > 114 > 2 > 186-194
Molecular Genetics and Metabolism > 2015 > 114 > 1 > 11-18
Human Mutation > 35 > 11 > 1271 - 1279
Molecular Genetics and Metabolism > 2014 > 112 > 2 > 160-170
Journal of Children's Orthopaedics > 2014 > 8 > 4 > 295-304
Skeletal Radiology > 2014 > 43 > 3 > 359-369
Molecular Genetics and Metabolism > 2013 > 110 > 1-2 > 54-64
Pathologie Biologie > 2012 > 60 > 3 > 190-192
Molecular Genetics and Metabolism > 2012 > 105 > 3 > 438-442
Molecular Genetics and Metabolism > 2009 > 97 > 3 > 196-201