Results 91 to 100 of about 3,459 (209)

Osteoporosis risk factors in HIV positive women with osteoporosis: A retrospective analysis [PDF]

, 2017
Multifactorial risk factors such as HIV/HCV co-infection and antiretroviral therapy (ARV) have been associated with osteoporosis in HIV+ women. We retrospectively analysed which known risk factors were associated with the diagnosis of osteoporosis ...
Colomba, C, DI CARLO, P, Gambino, A, Giannitrapani, L., La Galla, R, LI VECCHI, V., LO CASTO, A, Lo Re, G, Midiri, M., Montalto, G., Serra, N, Soresi, M.   +11 more
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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, Hamza Mustapha Ahmed, Abdulazeez Olalekan Tella, Muhammad Faruk Bashir, Yusuf Aliyu Saliu   +4 more
doaj   +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, Oliveira, Beatriz, Pereira Caetano, Iris, Rodrigues, Pedro, Theisen, Patrícia   +4 more
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Clinical study of the treatment of digital exostosis by introducing a biocompatible gel [PDF]

Antecedentes. La exóstosis digital es una patología común que se presenta con frecuencia en las consultas de podología. A pesar del alto grado de incidencia es una entidad clínica muy poco estudiada.
Bonill a Toyos, Elvira Mª, de Planell Mas, Elena, Giralt de Veciana, Enrique, Manzanares Céspedes, Mª Cristina, Novel Martí, Virginia, Truchero Coma, Consuelo   +5 more
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Biplanar EOS screening in children with hereditary multiple osteochondromas: a feasible screening method?

Frontiers in Pediatrics
BackgroundChildren with Hereditary Multiple Ostechondromas (HMO) require regular screening to identify gradual dysplasia or osteochondromas that need surgery.
Henrik Hedelin, Henrik Hedelin, Jenny Ahlin, Jenny Ahlin, Aina Danielsson, Aina Danielsson, Helena Brisby, Helena Brisby, Kerstin Lagerstrand, Kerstin Lagerstrand   +9 more
doaj   +1 more source

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
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Hereditary multiple exostoses. [PDF]

Journal of Medical Genetics, 1991
openaire   +3 more sources

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
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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
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Chondrogene Tumoren des Skeletts [PDF]

, 2018
Zusammenfassung: Obwohl das Spektrum gutartiger und bösartiger Knorpeltumoren sehr breit ist, lässt sich unter Berücksichtigung von Alter, Klinik, Lokalisation und Topik im Knochen sowie des Röntgenbefundes in der Regel auch an kleinen Biopsien eine ...
Baumhoer, D., Jundt, G.
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