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1
“... male sexual activity is increasing. Free nerve endings also show no correlation with sexual response...”
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2
Por Shah, Javeed A., Berrington, William R., Vary, James C., Wells, Richard D., Peterson, Glenna J., Kunwar, Chhatra B., Khadge, Saraswoti, Hagge, Deanna A., Hawn, Thomas R.
Publicado no J Infect Dis (2016)
“...Leprosy is a chronic disease characterized by skin and peripheral nerve pathology and immune...”Publicado no J Infect Dis (2016)
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3
Por Cezar-de-Mello, Paula F. T., Toledo-Pinto, Thiago G., Marques, Carolinne S., Arnez, Lucia E. A., Cardoso, Cynthia C., Guerreiro, Luana T. A., Antunes, Sérgio L. G., Jardim, Márcia M., Covas, Claudia de J. F., Illaramendi, Ximena, Dias-Baptista, Ida M., Rosa, Patrícia S., Durães, Sandra M. B., Pacheco, Antonio G., Ribeiro-Alves, Marcelo, Sarno, Euzenir N., Moraes, Milton O.
Publicado em 2014
“... expression and could be involved during the infection. To address the genetic influence of miRNAs in leprosy...”Publicado em 2014
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4
“... demonstrated that genetic and environmental factors play a major role in the development of autism. However...”
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5
Por Young, Saroj K., Ponnighaus, Jorg M., Jain, Suman, Lucas, Sebastian, Suneetha, Sujai, Lockwood, Diana N. J., Young, Douglas B., Fine, Paul E. M.
Publicado em 2008
“... of the disease. METHODOLOGY/PRINCIPAL FINDINGS: Genotyping assays based on variation in the copy number of short...”Publicado em 2008
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6
Por Semmler, Anna-Lena, Sacconi, Sabrina, Bach, J Elisa, Liebe, Claus, Bürmann, Jan, Kley, Rudolf A, Ferbert, Andreas, Anderheiden, Roland, Van den Bergh, Peter, Martin, Jean-Jacques, De Jonghe, Peter, Neuen-Jacob, Eva, Müller, Oliver, Deschauer, Marcus, Bergmann, Markus, Schröder, J Michael, Vorgerd, Matthias, Schulz, Jörg B, Weis, Joachim, Kress, Wolfram, Claeys, Kristl G
Publicado no Orphanet J Rare Dis (2014)
“... be considered even in cases with a mild phenotype or an adult onset. We identified a genetic defect in one...”Publicado no Orphanet J Rare Dis (2014)
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7
Por Liaw, Hsiang-Ru, Lee, Hsiu-Fen, Chi, Ching-Shiang, Tsai, Chi-Ren
Publicado no Orphanet J Rare Dis (2015)
“...BACKGROUND: This study was conducted to describe the clinical and genetic features of patients...”Publicado no Orphanet J Rare Dis (2015)
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8
Por Shenoy, Anant M., Markowitz, Jennifer A., Bonnemann, Carsten G., Krishnamoorthy, Kalpathy, Bossler, Aaron D., Tseng, Brian S.
Publicado em 2010
“... weakness including facial muscles, and visual impairment with optic nerve hypoplasia. In the absence...”Publicado em 2010
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9
“...Congenital myasthenic syndromes are a heterogeneous group of genetically determined disorders...”
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10
“..., at least in part, the cyclic aspects of CH. The disease is familial in about 10% of cases. Genetic factors...”
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11
Por Bischoff, Allison N., Reiersen, Angela M., Buttlaire, Anna, Al-lozi, Amal, Doty, Tasha, Marshall, Bess A., Hershey, Tamara
Publicado no Orphanet J Rare Dis (2015)
“... nerve atrophy, vision loss, hearing impairment, motor abnormalities, and neurodegeneration, but has been...”Publicado no Orphanet J Rare Dis (2015)
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12
Por Lenaers, Guy, Hamel, Christian, Delettre, Cécile, Amati-Bonneau, Patrizia, Procaccio, Vincent, Bonneau, Dominique, Reynier, Pascal, Milea, Dan
Publicado em 2012
“... characterized by a bilateral degeneration of the optic nerves, causing insidious visual loss, typically starting...”Publicado em 2012
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13
Por Auer-Grumbach, Michaela
Publicado em 2008
“... and gastrooesophageal reflux have been observed in rare cases. HSN I is a genetically heterogenous condition with three...”Publicado em 2008
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14
“... between populations. Onset is usually in adulthood but cases of presentation in childhood have been...”
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15
Por Turón-Viñas, Eulàlia, Pineda, Mercè, Cusí, Victòria, López-Laso, Eduardo, del Pozo, Rebeca Losada, Gutiérrez-Solana, Luis González, Moreno, David Conejo, Sierra-Córcoles, Concha, Olabarrieta-Hoyos, Naiara, Madruga-Garrido, Marcos, Aguirre-Rodríguez, Javier, González-Álvarez, Verónica, O’Callaghan, Mar, Muchart, Jordi, Armstrong-Moron, Judith
Publicado em 2014
“... patients were diagnosed according to genetics: we found mutations in the genes eIF2B5 (13 cases), eIF2B3 (2...”Publicado em 2014
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16
Por Assadi, Mitra, Wang, Dah-Jyuu, Anderson, Kelly, Carran, Melissa, Bilaniuk, Larissa, Leone, Paola
Publicado em 2012
“... recruited four advanced patients with clinical, biochemical and genetic confirmation of MLD. The patients...”Publicado em 2012
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17
“.... GENETIC COUNSELLING: The majority of the cases of Dercum’s disease occur sporadically. A to G mutation...”
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