Results 141 to 150 of about 4,012 (251)

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

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  

Giant Costal Chondrosarcoma in a Patient With Hereditary Multiple Exostoses [PDF]

, 2014
Metesh Acharya, Afil Jamali, Jagan Rao
openalex   +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

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

Cervical Myelopathy Caused by Disc Herniation at the Segment of Existing Osteochondroma in a Patient with Hereditary Multiple Exostoses [PDF]

, 2014
Ko Ikuta, Kiyoshi Tarukado, Hideyuki Senba, Takahiro Kitamura, Norihiro Komiya, Satoshi Shidahara   +5 more
openalex   +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

Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses

, 2004
Stefan J. White, Geraldine R. Vink, Marjolein Kriek, Wim Wuyts, Jan Schouten, Egbert Bakker, Martijn H. Breuning, Johan T. den Dunnen   +7 more
openalex   +1 more source

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

Characteristics of Hip Impingement Syndrome in patients with Multiple Hereditary Exostoses [PDF]

, 2020
Yeong-Seub Ahn, Ho-Seok Oh, Woo-Jong Kim, Yu-Seok Kim, Sung Taek Jung   +4 more
openalex   +1 more source