Works matching DE "GENETIC variation"

Results: 5000
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    GBA1 and The Immune System: A Potential Role in Parkinson's Disease?

    Published in:
    Journal of Parkinson's Disease, 2022, v. 12, p. S53, doi. 10.3233/JPD-223423
    By:
    • Al-Azzawi, Zaid A.M.;
    • Arfaie, Saman;
    • Gan-Or, Ziv;
    • Bloem, Bastiaan R.;
    • Brundin, Patrik;
    • Tan, Eng King;
    • Harms, Ashley;
    • Lindestam Arlehamn, Cecilia;
    • Williams-Gray, Caroline
    Publication type:
    Article
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    Axial Impairment Following Deep Brain Stimulation in Parkinson's Disease: A Surgicogenomic Approach.

    Published in:
    Journal of Parkinson's Disease, 2022, v. 12, n. 1, p. 117, doi. 10.3233/JPD-212730
    By:
    • Visanji, Naomi P.;
    • Ghani, Mahdi;
    • Yu, Eric;
    • Kakhki, Erfan Ghani;
    • Sato, Christine;
    • Moreno, Danielle;
    • Naranian, Taline;
    • Poon, Yu-Yan;
    • Abdollahi, Maryam;
    • Naghibzadeh, Maryam;
    • Rajalingam, Rajasumi;
    • Lozano, Andres M.;
    • Kalia, Suneil K.;
    • Hodaie, Mojgan;
    • Cohn, Melanie;
    • Statucka, Marta;
    • Boutet, Alexandre;
    • Elias, Gavin J.B.;
    • Germann, Jürgen;
    • Munhoz, Renato
    Publication type:
    Article
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    Population Genetics of Brook Trout in the Southern Appalachian Mountains.

    Published in:
    Transactions of the American Fisheries Society, 2022, v. 151, n. 2, p. 127, doi. 10.1002/tafs.10337
    By:
    • Kazyak, David C.;
    • Lubinski, Barbara A.;
    • Kulp, Matt A.;
    • Pregler, Kasey C.;
    • Whiteley, Andrew R.;
    • Hallerman, Eric;
    • Coombs, Jason A.;
    • Kanno, Yoichiro;
    • Rash, Jacob M.;
    • Morgan, Raymond P.;
    • Habera, Jim;
    • Henegar, Jason;
    • Weathers, T. Casey;
    • Sell, Matthew T.;
    • Rabern, Anthony;
    • Rankin, Dan;
    • King, Tim L.
    Publication type:
    Article
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    Broadscale Population Structure and Hatchery Introgression of Midwestern Brook Trout.

    Published in:
    Transactions of the American Fisheries Society, 2022, v. 151, n. 1, p. 81, doi. 10.1002/tafs.10333
    By:
    • Erdman, Bradley;
    • Mitro, Matthew G.;
    • Griffin, Joanna D. T.;
    • Rowe, David;
    • Kazyak, David C.;
    • Turnquist, Keith;
    • Siepker, Michael;
    • Miller, Loren;
    • Stott, Wendylee;
    • Hughes, Michael;
    • Sloss, Brian;
    • Kinnison, Michael T.;
    • Wilson, Chris C.;
    • Larson, Wes
    Publication type:
    Article
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    Unfolding the Mystery of Autoimmunity: The Environmental Determinants of Diabetes in the Young (TEDDY) Study.

    Published in:
    Diabetes Care, 2025, v. 48, n. 7, p. 1125, doi. 10.2337/dc24-2886
    By:
    • Rewers, Marian;
    • Agardh, Daniel;
    • Bennett Johnson, Suzanne;
    • Bonifacio, Ezio;
    • Elding Larsson, Helena;
    • Gesualdo, Patricia;
    • Hagopian, William;
    • Haller, Michael J.;
    • Hyöty, Heikki;
    • Johnson, Randi;
    • McIndoe, Richard;
    • McKinney, Eoin;
    • Melin, Jessica;
    • Lernmark, Åke;
    • Lloyd, Richard E.;
    • Lynch, Kristian F.;
    • Norris, Jill M.;
    • Rich, Stephen S.;
    • Roth, Roswith;
    • Schatz, Desmond
    Publication type:
    Article
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    Variants in ATP6V0C are associated with Dravet‐like developmental and epileptic encephalopathy.

    Published in:
    Epilepsia (Series 4), 2025, v. 66, n. 6, p. 2046, doi. 10.1111/epi.18346
    By:
    • Rong, Marlene;
    • Marques, Paula T.;
    • Ali, Quratulain Zulfiqar;
    • Morcos, Ricardo;
    • Chandran, Ilakkiah;
    • Qaiser, Farah;
    • Møller, Rikke S.;
    • Bayat, Allan;
    • Rubboli, Guido;
    • Gardella, Elena;
    • Reuter, Miriam S.;
    • Sands, Tristan T.;
    • Scheffer, Ingrid E.;
    • Schneider, Amy;
    • Poduri, Annapurna;
    • Wirrell, Elaine;
    • Nabbout, Rima;
    • Sullivan, Joseph;
    • Valente, Kette;
    • Auvin, Stéphane
    Publication type:
    Article
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    Clinical, Phenotypic and Genotypic Characteristics of Von Willebrand Disease in Afro‐Caribbeans: Results From a Study in Martinique Island, French West Indies.

    Published in:
    Haemophilia, 2025, v. 31, n. 3, p. 458, doi. 10.1111/hae.70003
    By:
    • Dubois, Marie‐Daniéla;
    • Pierre‐Louis, Olivier Nicolas;
    • Pierre‐Louis, Serge;
    • Boisseau, Pierre;
    • Denis, Cécile V.;
    • Dupont, Annabelle;
    • Goudemand, Jenny;
    • Casari, Caterina;
    • Jeanpierre, Emmanuelle;
    • Zawadzki, Christophe;
    • Ferrey, Béatrice;
    • Rabout, Johalène;
    • Fuseau, Pascal;
    • Chonville, Emelyne;
    • Michel, Franck;
    • Yerro, Marie‐Nadiège;
    • Gruel, Yves;
    • Christophe, Olivier;
    • Lenting, Peter J.;
    • Janky, Eustase
    Publication type:
    Article
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    Novel NUDCD1 gene variant predisposes to severe COVID-19 disease in Asians through modulation of antiviral DHX15- and MAVS-mediated signalling.

    Published in:
    Frontiers in Immunology, 2025, p. 1, doi. 10.3389/fimmu.2025.1581293
    By:
    • Anusha Amali, Aseervatham;
    • Tay, Douglas Jie Wen;
    • Seow, Yiqi;
    • Loh, Marie;
    • Ravikumar, Sharada;
    • Yu, Jocelyn Jin;
    • Loong, Shaun Seh Ern;
    • Fong, Siew Wai;
    • Lee, Chang Jie Mick;
    • Lim, Jonathan Jordon Cailu;
    • Gan, Louis Hanqiang;
    • Koh, Winston Lian Chye;
    • Ding, Ying;
    • Sam, Qi Hui;
    • Tan, Zhaohong;
    • Tan, Rachel Ying Min;
    • Lua, Chong Boon;
    • Chu, Justin Jang Hann;
    • Singhal, Amit;
    • Prabhakar, Shyam
    Publication type:
    Article
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    In‐frame insertions of SOX10 are highly enriched and characterize a distinct transcriptomic profile in gastrointestinal schwannomas.

    Published in:
    Journal of Pathology, 2025, v. 266, n. 3, p. 268, doi. 10.1002/path.6426
    By:
    • Lee, Pei‐Hang;
    • Huang, Shih‐Chiang;
    • Lee, Jen‐Chieh;
    • Li, Sung‐Chou;
    • Tsai, Jen‐Wei;
    • Chang, Yi‐Ming;
    • Kao, Yu‐Chien;
    • Fan, Wen‐Lang;
    • Chang, Ching‐Di;
    • Chen, Hui‐Chun;
    • Li, Chih‐Hao;
    • Hu, Chia‐Fa;
    • Liu, Ting‐Ting;
    • Wu, Pao‐Shu;
    • Nam, Mann‐Hua;
    • Yu, Shih‐Chen;
    • Wang, Jui‐Chu;
    • Huang, Hsuan‐Ying
    Publication type:
    Article
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