Results 81 to 90 of about 5,497,492 (144)
EXT2 (exostoses (multiple) 2) [PDF]
Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011 Review on EXT2 (exostoses (multiple) 2), with data on DNA, on the protein encoded, and where the gene is implicated.
openaire +2 more sources
Osteochondroma of the mandibular condyle: Resection and reconstruction using vertical sliding osteotomy of the mandibular ramus [PDF]
, 2009 Osteochondroma is one of the most common benign bone tumours, although not in the craniofacial region. More than half of these appear in the coronoid process.
Escrig de Teigeiro, M. +4 more
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, 2015 Cilia are architecturally complex organelles that protrude from the cell membrane and have signalling, sensory and motility functions that are central to normal tissue development and homeostasis.
Ah-Cann, Casey J +11 more
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, 1989 Anybody infected by the humour of Ash and Lake\u27s Bizzare Books (particularly Chapter 2, The Right Person for the job ) will be continually on the lookout for similar bibliographic anomalies. Working in a medical library, I have developed the habit
Holgate, John
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Case of Multiple Exostoses [PDF]
Proceedings of the Royal Society of Medicine, 1925 Hubert Armstrong, C. Thurstan Holland
openaire +3 more sources
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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Tricho-rhino-phalangeal syndrome type I as a “cis-ruption disorder” caused by a translocation [PDF]
, 2011 Tricho-rhino-phalangeal syndrome type I (TRPS I; OMIM 190350) and type II (OMIM 150230) are two forms of the rare autosomal-dominant TRP malformation syndrome localised in 8q23.3–24.1.
Araújo, Carlos +7 more
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A rare case of Beckwith–Wiedemann syndrome caused by a de novo microduplication at 11p15.5 of paternal origin [PDF]
, 2011 Beckwith–Wiedemann syndrome (BWS) is a disorder of growth regulation exhibiting somatic overgrowth and predisposition to paediatric tumours. With an incidence estimated at 1 in 13,700, it is caused by various epigenetic and/or genetic alterations ...
Alves, Cristina +6 more
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