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Journal Article
Clinical Rheumatology, ISSN 0770-3198, 3/2018, Volume 37, Issue 3, pp. 857 - 857
One of the author’s name on this article was incorrectly spelled as “Renata Borcciadi”. The correct spelling is “Renata Bocciardi” and is now presented... 
Medicine & Public Health | Rheumatology | Genetic aspects | Molecular genetics | Pharmacy | Medical genetics | Myositis ossificans
Journal Article
12/2011
Dyggve-Melchior-Clausen (DMC) syndrome is a rare autosomal recessive disorder. It is a spondyloepimetaphyseal dysplasia associated with mental retardation.... 
Dymeclin gene | recurrent mutation | Dyggve-Melchior-Clausen syndrome
Web Resource
Journal of Medical Case Reports, ISSN 1752-1947, 12/2018, Volume 12, Issue 1, pp. 1 - 4
Abstract Background Familial Mediterranean fever is an autoinflammatory disease of unknown etiology, characterized clinically by recurrent attacks of... 
FMF-BD coexistence | Case report | Familial Mediterranean fever | MEFV gene | Behçet’s disease
Journal Article
Journal Article
Nature genetics, ISSN 1061-4036, 2017, Volume 49, Issue 2, pp. 249 - 255
Journal Article
Human Mutation, ISSN 1059-7794, 10/2014, Volume 35, Issue 10, pp. 1203 - 1210
Journal Article
BMC pediatrics, ISSN 1471-2431, 04/2018, Volume 18, Issue 1, pp. 138 - 1
After publication of the original article [1] it was brought to our attention that author Bouchra Ouled Amar Bencheikh was incorrectly included as Bouchra... 
Journal Article
Journal Article
02/2008
Mowat-Wilson syndrome is a mental retardation-multiple congenital anomaly syndrome characterized by a typical facies, developmental delay, epilepsy, and... 
severe mental retardation | Mowat-Wilson syndrome | ZFHX1B gene | Dysmorphia
Web Resource
American Journal of Medical Genetics Part A, ISSN 1552-4825, 09/2016, Volume 170, Issue 9, pp. 2462 - 2465
Journal Article