1
Por Borde, Johannes P, Meier, Simone, Fingerle, Volker, Klier, Christiane, Hübner, Johannes, Kern, Winfried V
Publicado em 2012
Assuntos:
“...Case Report...”Publicado em 2012
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2
Por Gonzalez-Rivas, Diego, Yang, Yang, Lei, Jiang, Hernandez, Luis, Jiang, Gening
Publicado no J Thorac Dis (2016)
“... in the same lung is an infrequent procedure, rarely reported in the literature. Currently, Most...”Publicado no J Thorac Dis (2016)
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3
Por McCoskey, Makayla, Addis, Victoria, Goodyear, Kendall, Sankar, Prithvi S., Ying, Gui-Shuang, Yu, Yinxi, Salowe, Rebecca, Cui, Qi, Miller-Ellis, Eydie, Maguire, Maureen, O’Brien, Joan
Publicado no Neurodegener Dis (2019)
“...) study at Scheie Eye Institute. Cases were further assessed for retinal nerve fiber layer (RNFL...”Publicado no Neurodegener Dis (2019)
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4
Por Lenaers, Guy, Hamel, Christian, Delettre, Cécile, Amati-Bonneau, Patrizia, Procaccio, Vincent, Bonneau, Dominique, Reynier, Pascal, Milea, Dan
Publicado em 2012
“...) are currently known for DOA. Additional loci and genes (OPA2, OPA6 and OPA7) are responsible for X-linked...”Publicado em 2012
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5
“...A relatively small number of especially susceptible nerve cell types within multiple...”
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6
“... with mutations in DOK7 and GFPT1, and less frequently with mutations in COLQ, ALG2, ALG14 and DPAGT. Genetic...”
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8
“..., genetic counseling is essential and best performed in specialized genetic clinics. There are currently...”
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9
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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