Pesquisas alternativas:
central nerve » ventral nerve (Expandir a Pesquisa), central nervous (Expandir a Pesquisa), central neural (Expandir a Pesquisa)
mental nerve » ventral nerve (Expandir a Pesquisa), renal nerve (Expandir a Pesquisa)
cases does » causes does (Expandir a Pesquisa), case does (Expandir a Pesquisa), cases due (Expandir a Pesquisa)
i central » coli central (Expandir a Pesquisa)
cases dos » cases do (Expandir a Pesquisa), bases dos (Expandir a Pesquisa), fases dos (Expandir a Pesquisa)
j mental » j mengual (Expandir a Pesquisa), j mena (Expandir a Pesquisa), j mehta (Expandir a Pesquisa)
nerve a » nerve _ (Expandir a Pesquisa)
a dis » a dos (Expandir a Pesquisa), a des (Expandir a Pesquisa), a dia (Expandir a Pesquisa)
central nerve » ventral nerve (Expandir a Pesquisa), central nervous (Expandir a Pesquisa), central neural (Expandir a Pesquisa)
mental nerve » ventral nerve (Expandir a Pesquisa), renal nerve (Expandir a Pesquisa)
cases does » causes does (Expandir a Pesquisa), case does (Expandir a Pesquisa), cases due (Expandir a Pesquisa)
i central » coli central (Expandir a Pesquisa)
cases dos » cases do (Expandir a Pesquisa), bases dos (Expandir a Pesquisa), fases dos (Expandir a Pesquisa)
j mental » j mengual (Expandir a Pesquisa), j mena (Expandir a Pesquisa), j mehta (Expandir a Pesquisa)
nerve a » nerve _ (Expandir a Pesquisa)
a dis » a dos (Expandir a Pesquisa), a des (Expandir a Pesquisa), a dia (Expandir a Pesquisa)
121
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)
“... higher Hb(A1C) levels than WFS and as expected both groups had higher levels than HC. The WFS group...”Publicado no Orphanet J Rare Dis (2015)
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122
Por Moramarco, Antonietta, Himmelblau, Ehud, Miraglia, Emanuele, Mallone, Fabiana, Roberti, Vincenzo, Franzone, Federica, Iacovino, Chiara, Giustini, Sandra, Lambiase, Alessandro
Publicado no Orphanet J Rare Dis (2019)
“... expressivity. It is caused in 85% of the cases with a known etiology by pathogenic variants in the PTCH1 gene...”Publicado no Orphanet J Rare Dis (2019)
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123
Por Olivieri, Giorgia, Pro, Stefano, Diodato, Daria, Di Capua, Matteo, Longo, Daniela, Martinelli, Diego, Bertini, Enrico, Dionisi-Vici, Carlo
Publicado no Orphanet J Rare Dis (2019)
“...BACKGROUND: Hyperornithinemia–hyperammonemia–homocitrullinuria (HHH) syndrome is a rare disorder...”Publicado no Orphanet J Rare Dis (2019)
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124
Por Satoh, Jun-ichi, Yamamoto, Yoji, Kitano, Shouta, Takitani, Mika, Asahina, Naohiro, Kino, Yoshihiro
Publicado em 2014
“..., at present, the central mechanism underlying neurodegeneration in C9ALS remains largely unknown. METHODS...”Publicado em 2014
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125
Por Dollat, Marion, Chaigne, Benjamin, Cormier, Grégoire, Costedoat-Chalumeau, Nathalie, Lifermann, François, Deroux, Alban, Berthoux, Emilie, Dernis, Emmanuelle, Sené, Thomas, Blaison, Gilles, Lambotte, Olivier, Terrier, Benjamin, Sellam, Jérémie, De Saint-Martin, Luc, Chiche, Laurent, Dupin, Nicolas, Mouthon, Luc
Publicado no BMC Infect Dis (2018)
“... (HPV-B19) infection. METHODS: We conducted a nationwide multicentre study to retrospectively describe...”Publicado no BMC Infect Dis (2018)
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126
Por Licis, Amy, Davis, Gabriel, Eisenstein, Sarah A., Lugar, Heather M., Hershey, Tamara
Publicado no Orphanet J Rare Dis (2019)
“...BACKGROUND: Wolfram syndrome is a rare disorder associated with diabetes mellitus, diabetes...”Publicado no Orphanet J Rare Dis (2019)
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127
“.... GENETIC COUNSELLING: The majority of the cases of Dercum’s disease occur sporadically. A to G mutation...”
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128
Por Haarmann, Helge, Gossler, Alexandra, Herrmann, Peter, Bonev, Slavtcho, Nguyen, Xuan Phuc, Hasenfuß, Gerd, Andreas, Stefan, Raupach, Tobias
Publicado no Tob Induc Dis (2016)
“... was significant between groups (+2.7 ± 1.0 vs.−1.8 ± 0.5 1/min; p = 0.002). In all 17 participants combined, a...”Publicado no Tob Induc Dis (2016)
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129
“... the diagnostic probability for an MID. METHODS: This is a retrospective evaluation of clinical, biochemical...”
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130
“... vestibular nerve (SVN) system. However, recently, with the development of more sophisticated vestibular...”
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131
Por MacRae, Cara, Kopalakrishnan, Swana, Faust, Lena, Klowak, Michael, Showler, Adrienne, Klowak, Stefanie A., Boggild, Andrea K.
Publicado no Trop Dis Travel Med Vaccines (2018)
“...BACKGROUND: Leprosy is a potentially debilitating disease of the skin and nerves that requires a...”Publicado no Trop Dis Travel Med Vaccines (2018)
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132
Por Palladino, Giampiero, Loizzo, Stefano, Fortuna, Andrea, Canterini, Sonia, Palombi, Fioretta, Erickson, Robert P., Mangia, Franco, Fiorenza, Maria Teresa
Publicado no Orphanet J Rare Dis (2015)
“...BACKGROUND: The lysosomal storage disorder, Niemann Pick type C1 (NPC1), presents a variable...”Publicado no Orphanet J Rare Dis (2015)
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133
Por Swaminathan, Aravind, du Cros, Philipp, Seddon, James A., Mirgayosieva, Shamsiya, Asladdin, Rajabov, Dusmatova, Zulfiya
Publicado no BMC Infect Dis (2017)
Assuntos:
“...Case Report...”Publicado no BMC Infect Dis (2017)
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134
Assuntos:
“...Case Report...”
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135
Por Karzon, Roanne, Narayanan, Anagha, Chen, Ling, Lieu, Judith E. C., Hershey, Tamara
Publicado no Orphanet J Rare Dis (2018)
“...BACKGROUND: Wolfram syndrome (WFS) is a rare autosomal recessive disease with clinical...”Publicado no Orphanet J Rare Dis (2018)
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136
Por Leruez, Stéphanie, Verny, Christophe, Bonneau, Dominique, Procaccio, Vincent, Lenaers, Guy, Amati-Bonneau, Patrizia, Reynier, Pascal, Scherer, Clarisse, Prundean, Adriana, Orssaud, Christophe, Zanlonghi, Xavier, Rougier, Marie-Bénédicte, Tilikete, Caroline, Miléa, Dan
Publicado no Orphanet J Rare Dis (2018)
“... years), four patients harbored the m.11778G > A pathogenic variant, and one the m.14484 T > C pathogenic...”Publicado no Orphanet J Rare Dis (2018)
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137
Por Chung, S-H, Biswas, S, Selvaraj, V, Liu, X-B, Sohn, J, Jiang, P, Chen, C, Chmilewsky, F, Marzban, H, Horiuchi, M, Pleasure, D E, Deng, W
Publicado no Cell Death Dis (2015)
“...The p38α mitogen-activated protein kinase (MAPK) is one of the serine/threonine kinases regulating...”Publicado no Cell Death Dis (2015)
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138
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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139
Por McMillan, Hugh J., Telegrafi, Aida, Singleton, Amanda, Cho, Megan T., Lelli, Daniel, Lynn, Francis C., Griffin, Julie, Asamoah, Alexander, Rinne, Tuula, Erasmus, Corrie E., Koolen, David A., Haaxma, Charlotte A., Keren, Boris, Doummar, Diane, Mignot, Cyril, Thompson, Islay, Velsher, Lea, Dehghani, Mohammadreza, Vahidi Mehrjardi, Mohammad Yahya, Maroofian, Reza, Tchan, Michel, Simons, Cas, Christodoulou, John, Martín-Hernández, Elena, Guillen Sacoto, Maria J., Henderson, Lindsay B., McLaughlin, Heather, Molday, Laurie L., Molday, Robert S., Yoon, Grace
Publicado no Orphanet J Rare Dis (2018)
“... were performed on differentiated induced pluripotent cells from one child, which confirmed a decrease...”Publicado no Orphanet J Rare Dis (2018)
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