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Material Type: Artigo
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A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disabilityFigueiredo, T ; Melo, U S ; Pessoa, A L S ; Nobrega, P R ; Kitajima, J P ; Rusch, H ; Vaz, F ; Lucato, L T ; Zatz, M ; Kok, F ; Santos, SMolecular psychiatry, 2016-08, Vol.21 (8), p.1125-1129 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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African ancestry protects against Alzheimer's disease-related neuropathologySCHLESINGER, D ; GRINBERG, L. T ; DOS SANTOS, Acf ; BRENTANI, H ; PASQUALUCCI, C. A ; NITRINI, R ; JACOB-FILHO, W ; ZATZ, M ; ALBA, J. G ; NASLAVSKY, M. S ; LICINIO, L ; FARFEL, J. M ; SUEMOTO, C. K ; DE LUCENA FERRETTI, R. E ; LEITE, Rep ; DE ANDRADE, M. PMolecular psychiatry, 2013-01, Vol.18 (1), p.79-85 [Periódico revisado por pares]Basingstoke: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan geneNigro, V ; de Sá Moreira, E ; Piluso, G ; Vainzof, M ; Belsito, A ; Politano, L ; Puca, A A ; Passos-Bueno, M R ; Zatz, MNature genetics, 1996-10, Vol.14 (2), p.195-198 [Periódico revisado por pares]United StatesTexto completo disponível |
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Material Type: Artigo
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Bioinformatics training in the USAZATZ, Marion MBriefings in bioinformatics, 2002-12, Vol.3 (4), p.353-360 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Mutations in the gene encoding PDGF-B cause brain calcifications in humans and miceKeller, Annika ; Westenberger, Ana ; Sobrido, Maria J ; García-Murias, Maria ; Domingo, Aloysius ; Sears, Renee L ; Lemos, Roberta R ; Ordoñez-Ugalde, Andres ; Nicolas, Gael ; da Cunha, José E Gomes ; Rushing, Elisabeth J ; Hugelshofer, Michael ; Wurnig, Moritz C ; Kaech, Andres ; Reimann, Regina ; Lohmann, Katja ; Dobričić, Valerija ; Carracedo, Angel ; Petrović, Igor ; Miyasaki, Janis M ; Abakumova, Irina ; Mäe, Maarja Andaloussi ; Raschperger, Elisabeth ; Zatz, Mayana ; Zschiedrich, Katja ; Klepper, Jörg ; Spiteri, Elizabeth ; Prieto, Jose M ; Navas, Inmaculada ; Preuss, Michael ; Dering, Carmen ; Janković, Milena ; Paucar, Martin ; Svenningsson, Per ; Saliminejad, Kioomars ; Khorshid, Hamid R K ; Novaković, Ivana ; Aguzzi, Adriano ; Boss, Andreas ; Le Ber, Isabelle ; Defer, Gilles ; Hannequin, Didier ; Kostić, Vladimir S ; Campion, Dominique ; Geschwind, Daniel H ; Coppola, Giovanni ; Betsholtz, Christer ; Klein, Christine ; Oliveira, Joao R MNature genetics, 2013-09, Vol.45 (9), p.1077-1082 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infectionAndreakos, Evangelos ; Abel, Laurent ; Vinh, Donald C ; Kaja, Elżbieta ; Drolet, Beth A ; Zhang, Qian ; O'Farrelly, Cliona ; Novelli, Giuseppe ; Rodríguez-Gallego, Carlos ; Haerynck, Filomeen ; Prando, Carolina ; Pujol, Aurora ; Su, Helen C ; Casanova, Jean-Laurent ; Spaan, András NNature immunology, 2022-02, Vol.23 (2), p.159-164 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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EX VIVO EXPANSION OF TUMOR INFILTRATING LYMPHOCYTES (TILS) AND CANCER STEM CELLS FROM MALIGNANT GLIOMASSantos, TR ; Kaid, C ; Araújo, DD ; Neville, IS ; Uno, M ; Zatz, M ; Okamoto, OKCytotherapy (Oxford, England), 2021-04, Vol.23 (4), p.15-16 [Periódico revisado por pares]Texto completo disponível |
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Material Type: Artigo
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Mayana Zatz. InterviewZatz, MThe Lancet (British edition), 2005-08, Vol.366 (9486), p.627 [Periódico revisado por pares]London: Elsevier LimitedTexto completo disponível |
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Material Type: Artigo
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A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2BBushby, Kate ; Bashir, Rumaisa ; Britton, Stephen ; Strachan, Tom ; Keers, Sharon ; Vafiadaki, Elizabeth ; Lako, Majlinda ; Richard, Isabelle ; Marchand, Sylvie ; Bourg, Nathalie ; Argov, Zohar ; Sadeh, Menachem ; Mahjneh, Ibrahim ; Marconi, Giampiero ; Passos-Bueno, Maria Rita ; Moreira, Eloisa de S ; Zatz, Mayana ; Beckmann, Jacques SNature genetics, 1998-09, Vol.20 (1), p.37-42 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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The short variant of the polymorphism within the promoter region of the serotonin transporter gene is a risk factor for late onset Alzheimer's diseaseOLIVEIRA, J. R. M ; GALLINDO, R. M ; MAIA, L. G. S ; BRITO-MARQUES, P. R ; OTTO, P. A ; PASSOS-BUENOS, M. R ; MORAIS, M. A ; ZATZ, MMolecular psychiatry, 1998-09, Vol.3 (5), p.438-441 [Periódico revisado por pares]Basingstoke: Nature Publishing GroupTexto completo disponível |