Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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11 |
Material Type: Artigo
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The intersection of COVID-19 and autoimmunityKnight, Jason S ; Caricchio, Roberto ; Casanova, Jean-Laurent ; Combes, Alexis J ; Diamond, Betty ; Fox, Sharon E ; Hanauer, David A ; James, Judith A ; Kanthi, Yogendra ; Ladd, Virginia ; Mehta, Puja ; Ring, Aaron M ; Sanz, Ignacio ; Selmi, Carlo ; Tracy, Russell P ; Utz, Paul J ; Wagner, Catriona A ; Wang, Julia Y ; McCune, William JThe Journal of clinical investigation, 2021-12, Vol.131 (24), p.1-9 [Periódico revisado por pares]United States: American Society for Clinical InvestigationTexto completo disponível |
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12 |
Material Type: Artigo
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Controlling for human population stratification in rare variant association studiesBouaziz, Matthieu ; Mullaert, Jimmy ; Bigio, Benedetta ; Seeleuthner, Yoann ; Casanova, Jean-Laurent ; Alcais, Alexandre ; Abel, Laurent ; Cobat, AurélieScientific reports, 2021-09, Vol.11 (1), p.19015-19015, Article 19015 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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13 |
Material Type: Artigo
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PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variationsZhang, Peng ; Bigio, Benedetta ; Rapaport, Franck ; Zhang, Shen-Ying ; Casanova, Jean-Laurent ; Abel, Laurent ; Boisson, Bertrand ; Itan, Yuval Stegle, OliverBioinformatics, 2018-12, Vol.34 (24), p.4307-4309 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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14 |
Material Type: Artigo
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A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencingNabavizadeh, Nasrinsadat ; Bressin, Annkatrin ; Shboul, Mohammad ; Moreno Traspas, Ricardo ; Chia, Poh Hui ; Bonnard, Carine ; Szenker‐Ravi, Emmanuelle ; Sarıbaş, Burak ; Beillard, Emmanuel ; Altunoglu, Umut ; Hojati, Zohreh ; Drutman, Scott ; Freier, Susanne ; El‐Khateeb, Mohammad ; Fathallah, Rajaa ; Casanova, Jean‐Laurent ; Soror, Wesam ; Arafat, Alaa ; Escande‐Beillard, Nathalie ; Mayer, Andreas ; Reversade, BrunoEMBO molecular medicine, 2023-02, Vol.15 (2), p.e16478-n/a [Periódico revisado por pares]England: John Wiley & Sons, IncTexto completo disponível |
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15 |
Material Type: Artigo
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RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegiaLaunay, Nathalie ; Ruiz, Montserrat ; Planas-Serra, Laura ; Verdura, Edgard ; Rodríguez-Palmero, Agustí ; Schlüter, Agatha ; Goicoechea, Leire ; Guilera, Cristina ; Casas, Josefina ; Campelo, Felix ; Jouanguy, Emmanuelle ; Casanova, Jean-Laurent ; Boespflug-Tanguy, Odile ; Vazquez Cancela, Maria ; Gutiérrez-Solana, Luis González ; Casasnovas, Carlos ; Area-Gomez, Estela ; Pujol, AuroraThe Journal of clinical investigation, 2023-07, Vol.133 (14) [Periódico revisado por pares]United States: American Society for Clinical InvestigationTexto completo disponível |
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16 |
Material Type: Artigo
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Measurement of CD74 N-terminal Fragment Accumulation in Cells Treated with SPPL2a InhibitorMartínez-Barricarte, Rubén ; Kong, Xiao-Fei ; Casanova, Jean-LaurentBio-protocol, 2019-06, Vol.9 (11), p.e3254-e3254 [Periódico revisado por pares]United States: Bio-ProtocolTexto completo disponível |
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17 |
Material Type: Artigo
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Notch, RORC and IL-23 signals cooperate to promote multi-lineage human innate lymphoid cell differentiationCroft, Carys A ; Thaller, Anna ; Marie, Solenne ; Doisne, Jean-Marc ; Surace, Laura ; Yang, Rui ; Puel, Anne ; Bustamante, Jacinta ; Casanova, Jean-Laurent ; Di Santo, James PNature communications, 2022-07, Vol.13 (1), p.4344-4344, Article 4344 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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18 |
Material Type: Artigo
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The Pathogenesis of Giant Condyloma Acuminatum (Buschke-Lowenstein Tumor): An OverviewPurzycka-Bohdan, Dorota ; Nowicki, Roman J ; Herms, Florian ; Casanova, Jean-Laurent ; Fouéré, Sébastien ; Béziat, VivienInternational journal of molecular sciences, 2022-04, Vol.23 (9), p.4547 [Periódico revisado por pares]Switzerland: MDPI AGTexto completo disponível |
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19 |
Material Type: Artigo
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Editorial: Advances in primary immunodeficiencies (inborn errors of immunity) in Central-Eastern Europe, volume IIPac, Malgorzata ; Casanova, Jean-Laurent ; Tuzankina, Irina ; Maródi, LászlóFrontiers in immunology, 2023-06, Vol.14, p.1221137-1221137 [Periódico revisado por pares]Switzerland: Frontiers Media S.ATexto completo disponível |
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20 |
Material Type: Artigo
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Jean-Laurent Casanova honored with the 2016 ASCI/Stanley J. Korsmeyer AwardJackson, SarahThe Journal of clinical investigation, 2016-04, Vol.126 (4), p.1137-1138 [Periódico revisado por pares]United States: American Society for Clinical InvestigationTexto completo disponível |