Experiencing the effects of a rare disease during childhood shapes development. Children with rare diseases may experience mental health challenges, bullying, and/or stigmatization, along with missing key opportunities for social development such as ...
Emily A. Holz
doaj +1 more source
Hereditary Multiple Exostoses: Genetic, Radiologic, and Oncologic Insights from Twenty-one Patients
Aim: To characterize the clinical, radiological, and genetic features of genetically confirmed hereditary multiple exostoses (HME) in patients presenting with multiple exostoses and to contribute to the understanding of the phenotypic and genotypic ...
Abdulkerim Kolkıran +8 more
doaj +1 more source
Golgi proteomics : Identification of a novel cartilage-specific Golgi protein GoPro49 [PDF]
The Golgi complex is a central organelle of the secretory pathway, responsible for a range of post-translational modifications, as well as for membrane traffic to the plasma membrane and to the endosomal-lysosomal pathway. In addition, this organelle has
Takatalo, Maarit
core
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome [PDF]
Badura-Stronka, Magdalena +44 more
core +1 more source
Thoracic solitary pedunculated osteochondroma in a child: a case report
Zubair Wali,1 Khalid I Khoshhal21Department of Orthopedic Surgery, King Fahd Hospital, Almadinah Almunawwarah, Saudi Arabia; 2Department of Orthopedic Surgery, College of Medicine, Taibah University, Almadinah Almunawwarah, Saudi ArabiaObjective: This ...
Wali Z, Khoshhal KI
doaj
Distal tibial interosseous osteochondroma with impending fracture of fibula – a case report and review of literature [PDF]
Iftikhar H Wani +5 more
core +1 more source
Rare case of osteochondroma in the spinous process of the fifth cervical vertebra in a pediatric patient with multiple hereditary exostoses. [PDF]
Aljesri MA, Issa M, Issa N.
europepmc +1 more source
Nationwide epidemiologic study of osteochondroma in Japan: Analysis of 4843 cases from the bone and soft tissue tumor registry. [PDF]
Matsumoto K +10 more
europepmc +1 more source
Mycotic popliteal artery aneurysm due to exostosis treated by excision and bypass. [PDF]
Perry TJ, Ellis R, Khalifeh A.
europepmc +1 more source

