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A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function
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A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

Lam, Michael T ; Coppola, Simona ; Krumbach, Oliver H F ; Prencipe, Giusi ; Insalaco, Antonella ; Cifaldi, Cristina ; Brigida, Immacolata ; Zara, Erika ; Scala, Serena ; Di Cesare, Silvia ; Martinelli, Simone ; Di Rocco, Martina ; Pascarella, Antonia ; Niceta, Marcello ; Pantaleoni, Francesca ; Ciolfi, Andrea ; Netter, Petra ; Carisey, Alexandre F ; Diehl, Michael ; Akbarzadeh, Mohammad ; Conti, Francesca ; Merli, Pietro ; Pastore, Anna ; Levi Mortera, Stefano ; Camerini, Serena ; Farina, Luciapia ; Buchholzer, Marcel ; Pannone, Luca ; Cao, Tram N ; Coban-Akdemir, Zeynep H ; Jhangiani, Shalini N ; Muzny, Donna M ; Gibbs, Richard A ; Basso-Ricci, Luca ; Chiriaco, Maria ; Dvorsky, Radovan ; Putignani, Lorenza ; Carsetti, Rita ; Janning, Petra ; Stray-Pedersen, Asbjorg ; Erichsen, Hans Christian ; Horne, AnnaCarin ; Bryceson, Yenan T ; Torralba-Raga, Lamberto ; Ramme, Kim ; Rosti, Vittorio ; Bracaglia, Claudia ; Messia, Virginia ; Palma, Paolo ; Finocchi, Andrea ; Locatelli, Franco ; Chinn, Ivan K ; Lupski, James R ; Mace, Emily M ; Cancrini, Caterina ; Aiuti, Alessandro ; Ahmadian, Mohammad R ; Orange, Jordan S ; De Benedetti, Fabrizio ; Tartaglia, Marco

The Journal of experimental medicine, 2019-12, Vol.216 (12), p.2778-2799 [Periódico revisado por pares]

United States: Rockefeller University Press

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2
Arrhythmogenic right ventricular cardiomyopathy: evaluation of the current diagnostic criteria and differential diagnosis
Arrhythmogenic right ventricular cardiomyopathy: evaluation of the current diagnostic criteria and differential diagnosis
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Arrhythmogenic right ventricular cardiomyopathy: evaluation of the current diagnostic criteria and differential diagnosis

Corrado, Domenico ; van Tintelen, Peter J ; McKenna, William J ; Hauer, Richard N W ; Anastastakis, Aris ; Asimaki, Angeliki ; Basso, Cristina ; Bauce, Barbara ; Brunckhorst, Corinna ; Bucciarelli-Ducci, Chiara ; Duru, Firat ; Elliott, Perry ; Hamilton, Robert M ; Haugaa, Kristina H ; James, Cynthia A ; Judge, Daniel ; Link, Mark S ; Marchlinski, Francis E ; Mazzanti, Andrea ; Mestroni, Luisa ; Pantazis, Antonis ; Pelliccia, Antonio ; Marra, Martina Perazzolo ; Pilichou, Kalliopi ; Platonov, Pyotr G A ; Protonotarios, Alexandros ; Rampazzo, Alessandra ; Saffitz, Jeffry E ; Saguner, Ardan M ; Schmied, Christian ; Sharma, Sanjay ; Tandri, Hari ; Te Riele, Anneline S J M ; Thiene, Gaetano ; Tsatsopoulou, Adalena ; Zareba, Wojciech ; Zorzi, Alessandro ; Wichter, Thomas ; Marcus, Frank I ; Calkins, Hugh

European heart journal, 2020-04, Vol.41 (14), p.1414-1429 [Periódico revisado por pares]

England: Oxford University Press

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3
Efficient ancestry and mutation simulation with msprime 1.0
Efficient ancestry and mutation simulation with msprime 1.0
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Efficient ancestry and mutation simulation with msprime 1.0

Baumdicker, Franz ; Bisschop, Gertjan ; Goldstein, Daniel ; Gower, Graham ; Ragsdale, Aaron P ; Tsambos, Georgia ; Zhu, Sha ; Eldon, Bjarki ; Ellerman, E Castedo ; Galloway, Jared G ; Gladstein, Ariella L ; Gorjanc, Gregor ; Guo, Bing ; Jeffery, Ben ; Kretzschumar, Warren W ; Lohse, Konrad ; Matschiner, Michael ; Nelson, Dominic ; Pope, Nathaniel S ; Quinto-Cortés, Consuelo D ; Rodrigues, Murillo F ; Saunack, Kumar ; Sellinger, Thibaut ; Thornton, Kevin ; van Kemenade, Hugo ; Wohns, Anthony W ; Wong, Yan ; Gravel, Simon ; Kern, Andrew D ; Koskela, Jere ; Ralph, Peter L ; Kelleher, Jerome Browning, S

Genetics (Austin), 2022-03, Vol.220 (3) [Periódico revisado por pares]

United States: Oxford University Press

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4
Diverse variola virus (smallpox) strains were widespread in northern Europe in the Viking Age
Diverse variola virus (smallpox) strains were widespread in northern Europe in the Viking Age
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Diverse variola virus (smallpox) strains were widespread in northern Europe in the Viking Age

Mühlemann, Barbara ; Vinner, Lasse ; Margaryan, Ashot ; Wilhelmson, Helene ; de la Fuente Castro, Constanza ; Allentoft, Morten E. ; de Barros Damgaard, Peter ; Hansen, Anders Johannes ; Holtsmark Nielsen, Sofie ; Strand, Lisa Mariann ; Bill, Jan ; Buzhilova, Alexandra ; Pushkina, Tamara ; Falys, Ceri ; Khartanovich, Valeri ; Moiseyev, Vyacheslav ; Jørkov, Marie Louise Schjellerup ; Østergaard Sørensen, Palle ; Magnusson, Yvonne ; Gustin, Ingrid ; Schroeder, Hannes ; Sutter, Gerd ; Smith, Geoffrey L. ; Drosten, Christian ; Fouchier, Ron A. M. ; Smith, Derek J. ; Willerslev, Eske ; Jones, Terry C. ; Sikora, Martin

Science (American Association for the Advancement of Science), 2020-07, Vol.369 (6502) [Periódico revisado por pares]

Washington: The American Association for the Advancement of Science

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5
The genetic architecture of the human cerebral cortex
The genetic architecture of the human cerebral cortex
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The genetic architecture of the human cerebral cortex

Ching, Christopher R K ; Zsembik, Leo C P ; Alhusaini, Saud ; Alnæs, Dag ; Amlien, Inge K ; Buimer, Elizabeth E L ; Bülow, Robin ; Bürger, Christian ; Chen, Qiang ; Cheung, Joshua W ; de Araujo, Tânia K ; de Zubicaray, Greig I ; Doan, Nhat Trung ; Dohm, Katharina ; Fedko, Iryna O ; Foley, Sonya F ; Garrett, Melanie E ; Ge, Tian ; Groenewold, Nynke A ; Harrison, Marc B ; Heslenfeld, Dirk J ; Holleran, Laurena ; Janowitz, Deborah ; Jockwitz, Christiane ; Kasperaviciute, Dalia ; Kaufmann, Tobias ; Kikuchi, Masataka ; Lee, Phil H ; Mühleisen, Thomas W ; Nakahara, Soichiro ; Olde Loohuis, Loes M ; Orfanos, Dimitri Papadopoulos ; Richard, Geneviève ; Salminen, Lauren ; Saremi, Arvin ; Shapland, Chin Yang ; Shen, Li ; Shin, Jean ; Shumskaya, Elena ; Sønderby, Ida E ; Tansey, Katherine E ; Thalamuthu, Anbupalam ; Vallerga, Costanza Ludovica ; van Erp, Theo G M ; van Rooij, Daan ; Wang, Mingyuan ; Whelan, Christopher D ; Wolf, Christiane ; Brandt, Christine L ; Cichon, Sven ; Degenhardt, Franziska ; Doherty, Colin P ; Espiritu, Ryan ; Heindel, Walter ; Ho, Beng-Choon ; Jang, MiHyun ; Kolskår, Knut ; Krug, Axel ; Luykx, Jurjen J ; Mathalon, Daniel H ; Morris, Derek W ; Nauck, Matthias ; O'Leary, Daniel S ; Opel, Nils ; Pike, G Bruce ; Quinlan, Erin B ; Tooney, Paul A ; White, Tonya ; Adams, Hieab H H ; Bis, Joshua C ; Debette, Stephanie ; Hofer, Edith ; Mosley, Thomas H ; Roshchupkin, Gennady V ; Yang, Qiong ; Ames, David ; Andreassen, Ole A ; Buitelaar, Jan K ; Bustillo, Juan R ; Cendes, Fernando ; Dalrymple-Alford, John C ; Hariri, Ahmad R ; Hashimoto, Ryota ; Heinz, Andreas ; Henskens, Frans A ; Hillegers, Manon H J ; Hoekstra, Pieter J ; Holmes, Avram J ; Jönsson, Erik G ; Kahn, René S ; Kennedy, Martin A ; Oosterlaan, Jaap ; Pausova, Zdenka ; Sim, Kang ; Toga, Arthur W ; Van der Wee, Nic J A ; van 't Ent, Dennis ; Völzke, Henry ; Weber, Bernd ; Medland, Sarah E

Science (American Association for the Advancement of Science), 2020-03, Vol.367 (6484), p.1340 [Periódico revisado por pares]

United States: The American Association for the Advancement of Science

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6
Assessment of the genetic and clinical determinants of fracture risk: genome wide association and mendelian randomisation study
Assessment of the genetic and clinical determinants of fracture risk: genome wide association and mendelian randomisation study
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Assessment of the genetic and clinical determinants of fracture risk: genome wide association and mendelian randomisation study

Trajanoska, Katerina ; Morris, John A ; Oei, Ling ; Zheng, Hou-Feng ; Evans, David M ; Kiel, Douglas P ; Ohlsson, Claes ; Richards, J Brent ; Rivadeneira, Fernando

BMJ (Online), 2018-08, Vol.362, p.k3225-k3225 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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7
Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database
Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database
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Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database

Møller, Pål ; Seppälä, Toni T ; Bernstein, Inge ; Holinski-Feder, Elke ; Sala, Paulo ; Gareth Evans, D ; Lindblom, Annika ; Macrae, Finlay ; Blanco, Ignacio ; Sijmons, Rolf H ; Jeffries, Jacqueline ; Vasen, Hans F A ; Burn, John ; Nakken, Sigve ; Hovig, Eivind ; Rødland, Einar Andreas ; Tharmaratnam, Kukatharmini ; de Vos tot Nederveen Cappel, Wouter H ; Hill, James ; Wijnen, Juul T ; Jenkins, Mark A ; Green, Kate ; Lalloo, Fiona ; Sunde, Lone ; Mints, Miriam ; Bertario, Lucio ; Pineda, Marta ; Navarro, Matilde ; Morak, Monika ; Renkonen-Sinisalo, Laura ; Valentin, Mev Dominguez ; Frayling, Ian M ; Plazzer, John-Paul ; Pylvanainen, Kirsi ; Genuardi, Maurizio ; Mecklin, Jukka-Pekka ; Moeslein, Gabriela ; Sampson, Julian R ; Capella, Gabriel

Gut, 2018-07, Vol.67 (7), p.1306-1316 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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8
Implementing a Functional Precision Medicine Tumor Board for Acute Myeloid Leukemia
Implementing a Functional Precision Medicine Tumor Board for Acute Myeloid Leukemia
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Implementing a Functional Precision Medicine Tumor Board for Acute Myeloid Leukemia

Malani, Disha ; Kumar, Ashwini ; Brück, Oscar ; Kontro, Mika ; Yadav, Bhagwan ; Hellesøy, Monica ; Kuusanmäki, Heikki ; Dufva, Olli ; Kankainen, Matti ; Eldfors, Samuli ; Potdar, Swapnil ; Saarela, Jani ; Turunen, Laura ; Parsons, Alun ; Västrik, Imre ; Kivinen, Katja ; Saarela, Janna ; Räty, Riikka ; Lehto, Minna ; Wolf, Maija ; Gjertsen, Bjorn Tore ; Mustjoki, Satu ; Aittokallio, Tero ; Wennerberg, Krister ; Heckman, Caroline A ; Kallioniemi, Olli ; Porkka, Kimmo

Cancer discovery, 2022-02, Vol.12 (2), p.388-401

United States: American Association for Cancer Research

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9
A snapshot of European registries on chronic kidney disease patients not on kidney replacement therapy
A snapshot of European registries on chronic kidney disease patients not on kidney replacement therapy
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A snapshot of European registries on chronic kidney disease patients not on kidney replacement therapy

Jager, Kitty J ; Åsberg, Anders ; Collart, Frederic ; Couchoud, Cécile ; Evans, Marie ; Finne, Patrik ; Peride, Ileana ; Rychlik, Ivan ; Massy, Ziad A

Nephrology, dialysis, transplantation, 2022-01, Vol.37 (1), p.8-13 [Periódico revisado por pares]

England: Oxford University Press

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10
European expert consensus on practical management of specific aspects of parathyroid disorders in adults and in pregnancy: recommendations of the ESE Educational Program of Parathyroid Disorders (PARAT 2021)
European expert consensus on practical management of specific aspects of parathyroid disorders in adults and in pregnancy: recommendations of the ESE Educational Program of Parathyroid Disorders (PARAT 2021)
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European expert consensus on practical management of specific aspects of parathyroid disorders in adults and in pregnancy: recommendations of the ESE Educational Program of Parathyroid Disorders (PARAT 2021)

Bollerslev, Jens ; Rejnmark, Lars ; Zahn, Alexandra ; Heck, Ansgar ; Appelman-Dijkstra, Natasha M ; Cardoso, Luis ; Hannan, Fadil M ; Cetani, Filomena ; Sikjaer, Tanja ; Formenti, Anna Maria ; Björnsdottir, Sigridur ; Schalin-Jäntti, Camilla ; Belaya, Zhanna ; Gibb, Fraser ; Lapauw, Bruno ; Amrein, Karin ; Wicke, Corinna ; Grasemann, Corinna ; Krebs, Michael ; Ryhänen, Eeva ; Makay, Özer ; Minisola, Salvatore ; Gaujoux, Sébastien ; Bertocchio, Jean-Philippe ; Hassan-Smith, Zaki ; Linglart, Agnès ; Winter, Elizabeth M ; Kollmann, Martina ; Zmierczak, Hans-Georg ; Tsourdi, Elena ; Pilz, Stefan ; Siggelkow, Heide ; Gittoes, Neil ; Marcocci, Claudio ; Kamenický, Peter

European journal of endocrinology, 2022-02, Vol.186 (2), p.R33-R63 [Periódico revisado por pares]

England: Bioscientifica Ltd

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