Results 101 to 110 of about 4,018 (255)
Familiäre Tumorerkrankungen im Knochen [PDF]
, 2018 Zusammenfassung: Familiäre Erkrankungen, die zur Bildung von Knochentumoren führen, sind selten. Sie entwickeln sich im Zusammenhang mit genetischen Alterationen, die den Zellzyklus (Retinoblastomsyndrom/RB1, Li-Fraumeni-Syndrom/p53), wachstumssteuernde ...
Baumhoer, D., Jundt, G.
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Hereditary multiple exostoses in a15-year-old boy: A case report and review of literature
Nigerian Journal of Paediatrics, 2016 Background: Hereditary Multiple Exostoses (HME) is a rare bone disease, usually associated with deformity and pressure symptoms. It is an autosomal dominant disorder characterized by the development of benign tumours growing outward from the metaphyses ...
Eke GK , Omunakwe HE , Echem RC
doaj
Multiple Hereditary Exostoses [PDF]
HSS Journal®: The Musculoskeletal Journal of Hospital for Special Surgery, 2005 Gregory R. Saboeiro +2 more
openaire +3 more sources
Radiological conference. Osteopoikilosis [PDF]
, 1998 published_or_final_versio
Peh, WCG, Wong, LLS
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Hereditary Multiple Osteochondroma with Incomplete Penetrance in a Lebanese Family: A Case Report [PDF]
, 2021 Background: Hereditary multiple osteochondroma (HMO) is a rare autosomal dominant disease with high penetrance reaching 95 to 100%. It manifests during childhood in most of the times. The spectrum of the disease is wide.
Alayane, Ali +7 more
core +1 more source
Importância do estudo multigénico no diagnóstico molecular de doenças raras por sequenciação de nova geração [PDF]
, 2019 Introdução: A sequenciação de nova geração (NGS) revolucionou o diagnóstico molecular das doenças raras (DR) proporcionando a análise de um maior número de genes, resultados mais rápidos e custos reduzidos. A NGS usando diferentes abordagens, possibilita
Gonçalves, João +4 more
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Hereditary multiple exostosis : a study in abnormal bone growth [PDF]
, 2020 Hereditary multiple exostosis is a generalised, heritable disorder of bone, characterised by the appearance of numerous cartilagecappecl exostoses at the juxta-epiphysial regions of the endochondral skeleton.
Solomon, Louis
core +1 more source
Hereditary multiple exostoses and porencephaly in a Nigerian child: a case report
The Pan African Medical Journal, 2018 Hereditary multiple exostoses (HME) is a rare condition that is characterised by the outgrowth of bony swellings, usually from the growth ends of long bones. It is autosomal dominant, and may result in debilitating deformities.
Idris Abiodun Adedeji +4 more
doaj +1 more source
Radiation exposure in multiple hereditary exostoses: A retrospective review. [PDF]
J Orthop, 2023 Farrell ND +4 more
europepmc +1 more source
NOTES ON A CASE OF MULTIPLE EXOSTOSES WITH HEREDITARY HISTORY. [PDF]
, 1915 Robert W. Cox
openalex +1 more source