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1
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype
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Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

Balasubramanian, Meena ; Dingemans, Alexander J M ; Albaba, Shadi ; Richardson, Ruth ; Yates, Thabo M ; Cox, Helen ; Douzgou, Sofia ; Armstrong, Ruth ; Sansbury, Francis H ; Burke, Katherine B ; Fry, Andrew E ; Ragge, Nicola ; Sharif, Saba ; Foster, Alison ; De Sandre-Giovannoli, Annachiara ; Elouej, Sahar ; Vasudevan, Pradeep ; Mansour, Sahar ; Wilson, Kate ; Stewart, Helen ; Heide, Solveig ; Nava, Caroline ; Keren, Boris ; Demirdas, Serwet ; Brooks, Alice S ; Vincent, Marie ; Isidor, Bertrand ; Küry, Sebastien ; Schouten, Meyke ; Leenders, Erika ; Chung, Wendy K ; Haeringen, Arie van ; Scheffner, Thomas ; Debray, Francois-Guillaume ; White, Susan M ; Palafoll, Maria Irene Valenzuela ; Pfundt, Rolph ; Newbury-Ecob, Ruth ; Kleefstra, Tjitske

European journal of human genetics : EJHG, 2021-04, Vol.29 (4), p.625-636 [Periódico revisado por pares]

England: Nature Publishing Group

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2
Off–label long acting injectable antipsychotics in real–world clinical practice: a cross-sectional analysis of prescriptive patterns from the STAR Network DEPOT study
Off–label long acting injectable antipsychotics in real–world clinical practice: a cross-sectional analysis of prescriptive patterns from the STAR Network DEPOT study
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Off–label long acting injectable antipsychotics in real–world clinical practice: a cross-sectional analysis of prescriptive patterns from the STAR Network DEPOT study

D’Agostino, Armando ; Aguglia, Andrea ; Barbui, Corrado ; Bartoli, Francesco ; Carrà, Giuseppe ; Cavallotti, Simone ; Chirico, Margherita ; Zangani, Caroline ; Ostuzzi, Giovanni ; Nosè, Michela ; Purgato, Marianna ; Turrini, Giulia ; Mazzi, Maria Angela ; Papola, Davide ; Gastaldon, Chiara ; Terlizzi, Samira ; De Fazio, Pasquale ; Magliocco, Fabio ; Raffaele, Gaetano ; Ostinelli, Edoardo Giuseppe ; Bergamelli, Emilio ; Lucii, Claudio ; Debolini, Sara ; Fargnoli, Francesco ; Luccarelli, Livia ; Annese, Pasqua Maria ; Cerretini, Massimiliano ; Tozzi, Fiorella ; Magnani, Nadia ; Bardicchia, Francesco ; Soscia, Federica ; Zotos, Spyridon ; Biancosino, Bruno ; Zonta, Filippo ; Pompei, Francesco ; Callegari, Camilla ; Poloni, Nicola ; Caselli, Ivano ; Diurni, Marcello ; Bortolaso, Paola ; Piccinelli, Marco ; Alberini, Gabrio ; Piantanida, Silvia ; Di Caro, Angela ; Gozzi, Mauro ; D’Ippolito, Chiara ; Barbanti, Silva Veronica ; Alessandro, Papalini ; Corbo, Mariangela ; Campese, Ornella ; Fiori, Federica ; Lorusso, Marco ; Viceconte, Daniela ; Suraniti, Francesco ; Rossi, Eugenio ; Lupoli, Pasqualino ; Menchetti, Marco ; Boso, Marianna ; Risaro, Paolo ; De Paoli, Giuseppe ; Catania, Cristina ; Tarricone, Ilaria ; Caretto, Valentina ; Storbini, Viviana ; Balzarro, Beatrice ; Tabacchi, Tommaso ; Nava, Roberto ; Bono, Adele ; Provenzi, Milena ; Trotta, Giulia ; Tremolada, Martina ; Bava, Mattia ; Verrengia, Enrica ; Lucchi, Sara ; Barchiesi, Michela ; Pacetti, Monica ; Amerio, Andrea ; Serafini, Gianluca ; Magni, Laura Rosa ; Tura, Giovanni Battista ; Mastromo, Daniele ; Ferrato, Farida ; Ghio, Lucio ; Parise, Vincenzo Fricchione ; Balletta, Giovanni ; De Vivo, Elisa ; Di Benedetto, Rossella ; Spano, Mariangela ; Pecile, Damiano ; Peresson, Giulia ; Bonavigo, Tommaso ; Perini, Giovanni ; Boschello, Filippo ; Strizzolo, Stefania ; Gardellin, Francesco ; di Giannantonio, Massimo ; Moretti, Daniele ; Fizzotti, Carlo ; La Barbera, Daniele ; Colli, Giuseppe

BMC psychiatry, 2022-06, Vol.22 (1), p.1-442, Article 442 [Periódico revisado por pares]

London: BioMed Central Ltd

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3
Effect of different electrostimulation currents on female urinary incontinence: A protocol of a randomized controlled trial
Effect of different electrostimulation currents on female urinary incontinence: A protocol of a randomized controlled trial
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Effect of different electrostimulation currents on female urinary incontinence: A protocol of a randomized controlled trial

Escandiusi Avramidis, Raissa ; Barbosa, Angélica Mércia Pascon ; Thomaz de Aquino Nava, Guilherme ; Hikaru Nagami, Danielle ; Prudencio, Caroline Baldini ; Rodrigues Pedroni, Cristiane Zhou, Jianhong

PloS one, 2022-12, Vol.17 (12), p.e0276722-e0276722 [Periódico revisado por pares]

United States: Public Library of Science

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4
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies
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A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies

Gonçalves, Sara ; Patat, Julie ; Guida, Maria Clara ; Lachaussée, Noelle ; Arrondel, Christelle ; Helmstädter, Martin ; Boyer, Olivia ; Gribouval, Olivier ; Gubler, Marie-Claire ; Mollet, Geraldine ; Rio, Marlène ; Charbit, Marina ; Bole-Feysot, Christine ; Nitschke, Patrick ; Huber, Tobias B ; Wheeler, Patricia G ; Haynes, Devon ; Juusola, Jane ; Billette de Villemeur, Thierry ; Nava, Caroline ; Afenjar, Alexandra ; Keren, Boris ; Bodmer, Rolf ; Antignac, Corinne ; Simons, Matias Bellen, Hugo J.

PLoS genetics, 2018-05, Vol.14 (5), p.e1007386-e1007386 [Periódico revisado por pares]

United States: Public Library of Science

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5
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay
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De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

Hiatt, Susan M ; Neu, Matthew B ; Ramaker, Ryne C ; Hardigan, Andrew A ; Prokop, Jeremy W ; Hancarova, Miroslava ; Prchalova, Darina ; Havlovicova, Marketa ; Prchal, Jan ; Stranecky, Viktor ; Yim, Dwight K C ; Powis, Zöe ; Keren, Boris ; Nava, Caroline ; Mignot, Cyril ; Rio, Marlene ; Revah-Politi, Anya ; Hemati, Parisa ; Stong, Nicholas ; Iglesias, Alejandro D ; Suchy, Sharon F ; Willaert, Rebecca ; Wentzensen, Ingrid M ; Wheeler, Patricia G ; Brick, Lauren ; Kozenko, Mariya ; Hurst, Anna C E ; Wheless, James W ; Lacassie, Yves ; Myers, Richard M ; Barsh, Gregory S ; Sedlacek, Zdenek ; Cooper, Gregory M Copenhaver, Gregory P.

PLoS genetics, 2018-11, Vol.14 (11), p.e1007671-e1007671 [Periódico revisado por pares]

United States: Public Library of Science

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6
Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders
Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders
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Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders

Huguet, Guillaume ; Nava, Caroline ; Lemière, Nathalie ; Patin, Etienne ; Laval, Guillaume ; Ey, Elodie ; Brice, Alexis ; Leboyer, Marion ; Szepetowski, Pierre ; Gillberg, Christopher ; Depienne, Christel ; Delorme, Richard ; Bourgeron, Thomas Toft, Mathias

PloS one, 2014-03, Vol.9 (3), p.e88600-e88600 [Periódico revisado por pares]

United States: Public Library of Science

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7
Glioblastoma remodelling of human neural circuits decreases survival
Glioblastoma remodelling of human neural circuits decreases survival
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Glioblastoma remodelling of human neural circuits decreases survival

Krishna, Saritha ; Choudhury, Abrar ; Keough, Michael B ; Seo, Kyounghee ; Ni, Lijun ; Kakaizada, Sofia ; Lee, Anthony ; Aabedi, Alexander ; Popova, Galina ; Lipkin, Benjamin ; Cao, Caroline ; Nava Gonzales, Cesar ; Sudharshan, Rasika ; Egladyous, Andrew ; Almeida, Nyle ; Zhang, Yalan ; Molinaro, Annette M ; Venkatesh, Humsa S ; Daniel, Andy G S ; Shamardani, Kiarash ; Hyer, Jeanette ; Chang, Edward F ; Findlay, Anne ; Phillips, Joanna J ; Nagarajan, Srikantan ; Raleigh, David R ; Brang, David ; Monje, Michelle ; Hervey-Jumper, Shawn L

Nature (London), 2023-05, Vol.617 (7961), p.599-607 [Periódico revisado por pares]

England: Nature Publishing Group

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8
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments
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Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments

Leblond, Claire S ; Nava, Caroline ; Polge, Anne ; Gauthier, Julie ; Huguet, Guillaume ; Lumbroso, Serge ; Giuliano, Fabienne ; Stordeur, Coline ; Depienne, Christel ; Mouzat, Kevin ; Pinto, Dalila ; Howe, Jennifer ; Lemière, Nathalie ; Durand, Christelle M ; Guibert, Jessica ; Ey, Elodie ; Toro, Roberto ; Peyre, Hugo ; Mathieu, Alexandre ; Amsellem, Frédérique ; Rastam, Maria ; Gillberg, I Carina ; Rappold, Gudrun A ; Holt, Richard ; Monaco, Anthony P ; Maestrini, Elena ; Galan, Pilar ; Heron, Delphine ; Jacquette, Aurélia ; Afenjar, Alexandra ; Rastetter, Agnès ; Brice, Alexis ; Devillard, Françoise ; Assouline, Brigitte ; Laffargue, Fanny ; Lespinasse, James ; Chiesa, Jean ; Rivier, François ; Bonneau, Dominique ; Regnault, Beatrice ; Zelenika, Diana ; Delepine, Marc ; Lathrop, Mark ; Sanlaville, Damien ; Schluth-Bolard, Caroline ; Edery, Patrick ; Perrin, Laurence ; Tabet, Anne Claude ; Schmeisser, Michael J ; Boeckers, Tobias M ; Coleman, Mary ; Sato, Daisuke ; Szatmari, Peter ; Scherer, Stephen W ; Rouleau, Guy A ; Betancur, Catalina ; Leboyer, Marion ; Gillberg, Christopher ; Delorme, Richard ; Bourgeron, Thomas Barsh, Gregory S.

PLoS genetics, 2014-09, Vol.10 (9), p.e1004580-e1004580 [Periódico revisado por pares]

United States: Public Library of Science

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9
Untangling social–ecological interactions: A methods portfolio approach to tackling contemporary sustainability challenges in fisheries
Untangling social–ecological interactions: A methods portfolio approach to tackling contemporary sustainability challenges in fisheries
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Untangling social–ecological interactions: A methods portfolio approach to tackling contemporary sustainability challenges in fisheries

Lindkvist, Emilie ; Pellowe, Kara E. ; Alexander, Steven M. ; Drury O'Neill, Elizabeth ; Finkbeiner, Elena M. ; Girón‐Nava, Alfredo ; González‐Mon, Blanca ; Johnson, Andrew F. ; Pittman, Jeremy ; Schill, Caroline ; Wijermans, Nanda ; Bodin, Örjan ; Gelcich, Stefan ; Glaser, Marion

Fish and fisheries (Oxford, England), 2022-09, Vol.23 (5), p.1202-1220 [Periódico revisado por pares]

Oxford: Blackwell Publishing Ltd

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10
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
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Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Marsh, Ashley P L ; Heron, Delphine ; Edwards, Timothy J ; Quartier, Angélique ; Galea, Charles ; Nava, Caroline ; Rastetter, Agnès ; Moutard, Marie-Laure ; Anderson, Vicki ; Bitoun, Pierre ; Bunt, Jens ; Faudet, Anne ; Garel, Catherine ; Gillies, Greta ; Gobius, Ilan ; Guegan, Justine ; Heide, Solveig ; Keren, Boris ; Lesne, Fabien ; Lukic, Vesna ; Mandelstam, Simone A ; McGillivray, George ; McIlroy, Alissandra ; Méneret, Aurélie ; Mignot, Cyril ; Morcom, Laura R ; Odent, Sylvie ; Paolino, Annalisa ; Pope, Kate ; Riant, Florence ; Robinson, Gail A ; Spencer-Smith, Megan ; Srour, Myriam ; Stephenson, Sarah E M ; Tankard, Rick ; Trouillard, Oriane ; Welniarz, Quentin ; Wood, Amanda ; Brice, Alexis ; Rouleau, Guy ; Attié-Bitach, Tania ; Delatycki, Martin B ; Mandel, Jean-Louis ; Amor, David J ; Roze, Emmanuel ; Piton, Amélie ; Bahlo, Melanie ; Billette de Villemeur, Thierry ; Sherr, Elliott H ; Leventer, Richard J ; Richards, Linda J ; Lockhart, Paul J ; Depienne, Christel

Nature genetics, 2017-04, Vol.49 (4), p.511-514 [Periódico revisado por pares]

United States: Nature Publishing Group

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