Results 131 to 140 of about 20,986 (228)

No DNA Copy Number Changes in Osteochondromas - A Comparative Genomic Hybridization Study [PDF]

, 1997
Elomaa, Inkeri, Karaharju, Erkki, Kivioja, Aarne, Knuutila, Sakari, Larramendy, Marcelo Luis, Salmivalli, Tarja, Tarkkanen, Maija, Valle, Julio   +7 more
core   +1 more source

A Case Report of Trevor's Disease in a Pediatric Patient with Hereditary Multiple Exostoses Disease. [PDF]

J Orthop Case Rep, 2021
Torrez TW, Marks E, Strom S, Doyle JS.
europepmc   +1 more source

ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg [PDF]

, 2017
In the endoplasmic reticulum (ER) of eukaryotes, N-linked glycans are first assembled on the lipid carrier dolichyl pyrophosphate. The GlcNAc2Man9Glc3 oligosaccharide is transferred to selected asparagine residues of nascent polypeptides.
Aebi, Markus, Berger, Eric G., Frank, Christian G., Grubenmann, Claudia E., Hennet, Thierry, Kjaergaard, Susanne   +5 more
core  

Treatment of Ewing Sarcoma, Paediatric Bone Sarcomas and Severe Paediatric Spinal Deformities in Finland [PDF]

, 2017
Background: Ewing sarcomas are rare highly malignant tumours. There are not many population-based studies including both bone and soft tissue tumours. Previous reports have suggested that the incidence of Ewing sarcoma in the paediatric population may be
Serlo, Joni
core  

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

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  

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

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

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

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