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1 |
Material Type: Tese de Doutorado
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Estudo do gene PTPN11 nos pacientes afetados pela síndrome de NoonanBertola, Débora RomeoBiblioteca Digital de Teses e Dissertações da USP; Universidade de São Paulo; Faculdade de Medicina 2006-02-21Acesso online. A biblioteca também possui exemplares impressos. |
2 |
Material Type: Tese de Doutorado
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Análise da expressão dos genes PROP1 e CTNNB1 em craniofaringiomas adamantinomatosos com e sem mutação somática no CTNNB1Cani, Carolina Maria GomesBiblioteca Digital de Teses e Dissertações da USP; Universidade de São Paulo; Faculdade de Medicina 2010-11-26Acesso online. A biblioteca também possui exemplares impressos. |
3 |
Material Type: Artigo
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X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype CorrelationsSavige, Judith ; Storey, Helen ; Il Cheong, Hae ; Gyung Kang, Hee ; Park, Eujin ; Hilbert, Pascale ; Persikov, Anton ; Torres-Fernandez, Carmen ; Ars, Elisabet ; Torra, Roser ; Hertz, Jens Michael ; Thomassen, Mads ; Shagam, Lev ; Wang, Dongmao ; Wang, Yanyan ; Flinter, Frances ; Nagel, Mato Singh, Shree RamPloS one, 2016-09, Vol.11 (9), p.e0161802-e0161802 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
4 |
Material Type: Artigo
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Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair SyndromeÜ. Basmanav, F. Buket ; Cau, Laura ; Tafazzoli, Aylar ; Méchin, Marie-Claire ; Wolf, Sabrina ; Romano, Maria Teresa ; Valentin, Frederic ; Wiegmann, Henning ; Huchenq, Anne ; Kandil, Rima ; Garcia Bartels, Natalie ; Kilic, Arzu ; George, Susannah ; Ralser, Damian J. ; Bergner, Stefan ; Ferguson, David J.P. ; Oprisoreanu, Ana-Maria ; Wehner, Maria ; Thiele, Holger ; Altmüller, Janine ; Nürnberg, Peter ; Swan, Daniel ; Houniet, Darren ; Büchner, Aline ; Weibel, Lisa ; Wagner, Nicola ; Grimalt, Ramon ; Bygum, Anette ; Serre, Guy ; Blume-Peytavi, Ulrike ; Sprecher, Eli ; Schoch, Susanne ; Oji, Vinzenz ; Hamm, Henning ; Farrant, Paul ; Simon, Michel ; Betz, Regina C.American journal of human genetics, 2016-12, Vol.99 (6), p.1292-1304 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
5 |
Material Type: Artigo
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Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic ApneaBauché, Stéphanie ; O’Regan, Seana ; Azuma, Yoshiteru ; Laffargue, Fanny ; McMacken, Grace ; Sternberg, Damien ; Brochier, Guy ; Buon, Céline ; Bouzidi, Nassima ; Topf, Ana ; Lacène, Emmanuelle ; Remerand, Ganaelle ; Beaufrere, Anne-Marie ; Pebrel-Richard, Céline ; Thevenon, Julien ; El Chehadeh-Djebbar, Salima ; Faivre, Laurence ; Duffourd, Yannis ; Ricci, Federica ; Mongini, Tiziana ; Fiorillo, Chiara ; Astrea, Guja ; Burloiu, Carmen Magdalena ; Butoianu, Niculina ; Sandu, Carmen ; Servais, Laurent ; Bonne, Gisèle ; Nelson, Isabelle ; Desguerre, Isabelle ; Nougues, Marie-Christine ; Bœuf, Benoit ; Romero, Norma ; Laporte, Jocelyn ; Boland, Anne ; Lechner, Doris ; Deleuze, Jean-François ; Fontaine, Bertrand ; Strochlic, Laure ; Lochmuller, Hanns ; Eymard, Bruno ; Mayer, Michèle ; Nicole, SophieAmerican journal of human genetics, 2016-09, Vol.99 (3), p.753-761 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
6 |
Material Type: Artigo
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Identification of cancer-associated missense mutations in hace1 that impair cell growth control and Rac1 ubiquitylationAndrio, Emilie ; Lotte, Romain ; Hamaoui, Daniel ; Cherfils, Jacqueline ; Doye, Anne ; Daugaard, Mads ; Sorensen, Poul H ; Bost, Frédéric ; Ruimy, Raymond ; Mettouchi, Amel ; Lemichez, EmmanuelScientific reports, 2017-03, Vol.7 (1), p.44779-44779, Article 44779 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
7 |
Material Type: Artigo
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New Insights into the Understanding of Hepatitis C Virus Entry and Cell-to-Cell Transmission by Using the Ionophore Monensin AFénéant, Lucie ; Potel, Julie ; François, Catherine ; Sané, Famara ; Douam, Florian ; Belouzard, Sandrine ; Calland, Noémie ; Vausselin, Thibaut ; Rouillé, Yves ; Descamps, Véronique ; Baumert, Thomas F ; Duverlie, Gilles ; Lavillette, Dimitri ; Hober, Didier ; Dubuisson, Jean ; Wychowski, Czeslaw ; Cocquerel, Laurence Diamond, M. S.Journal of virology, 2015-08, Vol.89 (16), p.8346-8364 [Periódico revisado por pares]United States: American Society for MicrobiologyTexto completo disponível |
8 |
Material Type: Artigo
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REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense VariantsIoannidis, Nilah M. ; Rothstein, Joseph H. ; Pejaver, Vikas ; Middha, Sumit ; McDonnell, Shannon K. ; Baheti, Saurabh ; Musolf, Anthony ; Li, Qing ; Holzinger, Emily ; Karyadi, Danielle ; Cannon-Albright, Lisa A. ; Teerlink, Craig C. ; Stanford, Janet L. ; Isaacs, William B. ; Xu, Jianfeng ; Cooney, Kathleen A. ; Lange, Ethan M. ; Schleutker, Johanna ; Carpten, John D. ; Powell, Isaac J. ; Cussenot, Olivier ; Cancel-Tassin, Geraldine ; Giles, Graham G. ; MacInnis, Robert J. ; Maier, Christiane ; Hsieh, Chih-Lin ; Wiklund, Fredrik ; Catalona, William J. ; Foulkes, William D. ; Mandal, Diptasri ; Eeles, Rosalind A. ; Kote-Jarai, Zsofia ; Bustamante, Carlos D. ; Schaid, Daniel J. ; Hastie, Trevor ; Ostrander, Elaine A. ; Bailey-Wilson, Joan E. ; Radivojac, Predrag ; Thibodeau, Stephen N. ; Whittemore, Alice S. ; Sieh, WeivaAmerican journal of human genetics, 2016-10, Vol.99 (4), p.877-885 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
9 |
Material Type: Artigo
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Can AlphaFold2 predict the impact of missense mutations on structure?Buel, Gwen R ; Walters, Kylie JNature structural & molecular biology, 2022-01, Vol.29 (1), p.1-2 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
10 |
Material Type: Artigo
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Structures of the E46K Mutant-Type α‑Synuclein Protein and Impact of E46K Mutation on the Structures of the Wild-Type α‑Synuclein ProteinWise-Scira, Olivia ; Dunn, Aquila ; Aloglu, Ahmet K ; Sakallioglu, Isin T ; Coskuner, OrkidACS chemical neuroscience, 2013-03, Vol.4 (3), p.498-508 [Periódico revisado por pares]United States: American Chemical SocietyTexto completo disponível |