Results 141 to 150 of about 4,108 (238)

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

Secondary Chondrosarcoma of the Lumbosacral Region: Are any Bones Spared in the Multiple Hereditary Exostoses? [PDF]

, 2012
A Hemalatha
openalex   +1 more source

A Case Report of Hereditary Multiple Exostoses

, 2022
O Benfaddoul, B Zouita, Abdelmadjid Zidani, El Azzouzi B, D. Basraoui, H Jalal   +5 more
openalex   +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

Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses. [PDF]

Orphanet J Rare Dis, 2021
Al-Zayed Z, Al-Rijjal RA, Al-Ghofaili L, BinEssa HA, Pant R, Alrabiah A, Al-Hussainan T, Zou M, Meyer BF, Shi Y.   +9 more
europepmc   +1 more source

Exostose múltipla hereditária com compressão medular Hereditary multiple exostosis with cervical cord compression: a case report

Arquivos de Neuro-Psiquiatria, 1975
Os autores registram um caso raro de exostose múltipla hereditária em que ocorreu compressão medular pelo crescimento de massa cartilaginosa na luz do canal raqueano.
José Jorge Facure, Nubor O. Facure, Luiz F. Castro   +2 more
doaj  

An unusual example of hereditary multiple exostoses: a case report and review of the literature. [PDF]

BMC Musculoskelet Disord, 2021
Chilvers R, Gallagher JA, Jeffery N, Bond AP.   +3 more
europepmc   +1 more source

Erratum: Multiple Hereditary Exostoses: Report of an EXT2 Gene Mutation in a Colombian Family

, 2018
Jhon Camacho‐Cruz, Luz Dary Gutiérrez, Cladelis Rubio, Alfonso Suárez, Angie Amaya   +4 more
openalex   +2 more sources

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