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Publications by E Jakkula
A Recurrent R718W Mutation in COMP Results in Multiple Epiphyseal Dysplasia With Mild Myopathy: Clinical and Pathogenetic Overlap With Collagen IX Mutations
Journal of Medical Genetics
Genetics
Related publications
Clinical and Radiographic Features of Multiple Epiphyseal Dysplasia Not Linked to the COMP or Type IX Collagen Genes
European Journal of Human Genetics
Genetics
Multiple Epiphyseal Dysplasia, With Severe Proximal Femoral Dysplasia
Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly
Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia: Uncommon Diagnosis in a Patient With Swelling Over Pinna
Annals of International Medical and Dental Research
Multiple Epiphyseal Dysplasia, Beighton Type
Multiple Epiphyseal Dysplasia Type 1
COL6A1 Mutation Leading to Bethlem Myopathy With Recurrent Hematuria: A Case Report
BMC Neurology
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Neurology
Recurrent Germline DLST Mutations in Individuals With Multiple Pheochromocytomas and Paragangliomas
American Journal of Human Genetics
Genetics
