Results 131 to 140 of about 21,112 (225)

Experience of chronic pain and stigma in an adolescent with hereditary multiple osteochondromas: a case report

Journal of Rare Diseases
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

Acta Haematologica Oncologica Turcica
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, Melike Ataseven Kulalı, Tuğba Daşar, Firdevs Dinçsoy Bir, Ahmet Kablan, Şükriye Yılmaz, Alişan Daylak, Şule Yeşil, Gürses Şahin   +8 more
doaj   +1 more source

Golgi proteomics : Identification of a novel cartilage-specific Golgi protein GoPro49 [PDF]

, 2009
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  

Hereditary Multiple Exostoses (HME) with Peroneal Nerve Compresion: A Case Report

International Journal of Medical Physics Clinical Engineering and Radiation Oncology, 2023
Onarisa Ayu, M. Iqbal
semanticscholar   +1 more source

Identification of a novel EXT2 frameshift mutation in a family with hereditary multiple exostoses by whole-exome sequencing. [PDF]

J Clin Lab Anal, 2021
Yang M, Xie H, Xu B, Xiang Q, Wang H, Hu T, Liu S.   +6 more
europepmc   +1 more source

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome [PDF]

, 2019
Badura-Stronka, Magdalena, Belligni, Elga, Bikker, Hennie, Bonati, Maria Teresa, Carvalho, Daniel R., Cobben, JanMaarten, Di, Donato, Nataliya, Ende, Jenneke van den, Essen, Ton van, Garavelli, Livia, Grønborg, Sabine, Haeringen, Arie van, Hagen, Johanna M. van, Hennekam, Raoul C., Herkert, Johanna C., Hollander, Nicolette S. Den, Hoogeboom, A. Jeannette M., Jamsheer, Aleksander, Latos-Bielenska, Anna, Lüdecke, Hermann-Josef, Maas, Saskia M., Maat-Kievit, Anneke, Magnani, Cinzia, Man, Stella A. de, Mannens, Marcel M., Marcelis, Carlo, Mathijssen, Inge B., Nielsen, Maartje, Otten, Ellen, Ousager, Lilian B., Pilch, Jacek, Plomp, Astrid, Poke, Gemma, Poluha, Anna, Posmyk, Renata, Rieubland, Claudine, Shaw, C. A., Silengo, Margharita, Simon, Marleen, Steen, Antony van der, Steichen, Elisabeth, Stumpel, Connie, Szakszon, Katalin, Tuin, Karin van der, Verheij, Joke B.G.M.   +44 more
core   +1 more source

C1 C2 spinal cord compression in hereditary multiple exostoses: case report and review of the literature. [PDF]

Int J Surg Case Rep, 2021
Jemel N, Gader G, Bedioui A, Zammel I, Badri M.   +4 more
europepmc   +1 more source

Thoracic solitary pedunculated osteochondroma in a child: a case report

Orthopedic Research and Reviews, 2013
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  

Perturbed body fluid distribution and osmoregulation in response to high salt intake in patients with hereditary multiple exostoses. [PDF]

Mol Genet Metab Rep, 2021
Oppelaar JJ, Rorije NMG, Olde Engberink RHG, Chahid Y, van Vlies N, Verberne HJ, van den Born BH, Vogt L.   +7 more
europepmc   +1 more source

Risk factors for ankle valgus in children with hereditary multiple exostoses: a retrospective cross-sectional study. [PDF]

J Child Orthop, 2021
Zhang W, Wang Z, Chen M, Li Y.
europepmc   +1 more source