Works matching DE "GENETIC testing

Results: 5000
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    "Saw‐Tooth" Cardiomyopathy in an Infant.

    Published in:
    Echocardiography, 2025, v. 42, n. 6, p. 1, doi. 10.1111/echo.70222
    By:
    • Ojha, Vineeta;
    • Mukherjee, Aprateem;
    • Nandi, Debanjan;
    • Misra, Sataroopa;
    • Gupta, Saurabh kumar;
    • Jagia, Priya
    Publication type:
    Article
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    Etiology and outcomes of primary renal tubular acidosis.

    Published in:
    Pediatric Nephrology, 2025, v. 40, n. 8, p. 2515, doi. 10.1007/s00467-025-06747-9
    By:
    • Priyadarshini, Sukanya;
    • Sinha, Aditi;
    • Jana, Manisha;
    • Tandon, Radhika;
    • Sikka, Kapil;
    • Mathur, Vijay Prakash;
    • Bhatt, Girish Chandra;
    • Yadav, Menka;
    • Meena, Jitendra Kumar;
    • Khandelwal, Priyanka;
    • Hari, Pankaj;
    • Bagga, Arvind
    Publication type:
    Article
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    PSY‐PGx: a new intervention for the implementation of pharmacogenetics in psychiatry.

    Published in:
    World Psychiatry, 2025, v. 24, n. 1, p. 141, doi. 10.1002/wps.21289
    By:
    • van Westrhenen, Roos;
    • Young, Allan H.;
    • Heilbronner, Urs;
    • Juruena, Mario;
    • Ingelman‐Sundberg, Magnus;
    • Jukic, Marin;
    • Kaprio, Jaakko;
    • Kas, Martien J.H.;
    • Moldovan, Ramona;
    • Nöthen, Markus M.;
    • Philipsen, Alexandra;
    • Shomron, Noam;
    • Van der Eycken, Erik;
    • Vieta, Eduard;
    • Schulze, Thomas G.
    Publication type:
    Article
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    Dementia risk prediction in early Parkinson's disease: Validation and genetic integration of the Montreal Parkinson risk of dementia scale (MoPaRDS).

    Published in:
    Journal of Parkinson's Disease, 2025, v. 15, n. 4, p. 868, doi. 10.1177/1877718X251329857
    By:
    • Szwedo, Aleksandra A;
    • Dalen, Ingvild;
    • Lawson, Rachael A;
    • Yarnall, Alison J;
    • Pedersen, Kenn Freddy;
    • Macleod, Angus D;
    • Counsell, Carl E;
    • Bäckström, David;
    • Forsgren, Lars;
    • Camacho, Marta;
    • Williams-Gray, Caroline H;
    • Tysnes, Ole-Bjørn;
    • Alves, Guido;
    • Maple-Grødem, Jodi
    Publication type:
    Article
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    A Virtual Cohort Study of Individuals at Genetic Risk for Parkinson's Disease: Study Protocol and Design.

    Published in:
    Journal of Parkinson's Disease, 2020, v. 10, n. 3, p. 1195, doi. 10.3233/JPD-202019
    By:
    • Schneider, Ruth B.;
    • Myers, Taylor L.;
    • Rowbotham, Helen M.;
    • Luff, Marie K.;
    • Amodeo, Katherine;
    • Sharma, Saloni;
    • Wilson, Renee;
    • Jensen-Roberts, Stella;
    • Auinger, Peggy;
    • McDermott, Michael P.;
    • Alcalay, Roy N.;
    • Biglan, Kevin;
    • Kinel, Daniel;
    • Tanner, Caroline;
    • Winter-Evans, Reni;
    • Augustine, Erika F.;
    • Cannon, Paul;
    • Holloway, Robert G.;
    • Dorsey, E. Ray
    Publication type:
    Article
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    Sudden Cardiac Arrest in an Adolescent with X-Linked Ichthyosis.

    Published in:
    Anatolian Journal of Cardiology / Anadolu Kardiyoloji Dergisi, 2025, v. 29, n. 6, p. 321, doi. 10.14744/AnatolJCardiol.2025.4903
    By:
    • Mutlu, Hatice;
    • Kayıhan, Can;
    • Ay, Arzu;
    • Havan, Merve;
    • Ramoğlu, Mehmet Gökhan;
    • Uçar, Tayfun;
    • Kendirli, Tanıl
    Publication type:
    Article
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    Interpretación de pruebas genéticas y biomarcadores en la distrofia muscular de Duchenne.

    Published in:
    Revista Ciencias de la Salud, 2025, v. 23, p. 1, doi. 10.12804/revistas.urosario.edu.co/revsalud/a.13656
    By:
    • Rivera-Nieto, Carolina;
    • Suárez-Obando, Fernando;
    • Barajas-Viracachá, Norma Carolina;
    • Becerra-Ortiz, Paulo César;
    • Bobadilla-Quesada, Edna Julieth;
    • Bolaños-Almeida, Carlos Ernesto;
    • Cañón-Zambrano, José Manuel;
    • Castellar-Leones, Sandra Milena;
    • Huertas-Quiñones, Manuel;
    • Jurado-Hernández, Jenny Libeth;
    • Lasprilla-Tovar, Juan David;
    • Laza-Gutiérrez, Nicolás J.;
    • Londoño Ossa, Isabel C.;
    • Nossa Almanza, Sergio Alejandro;
    • Ortiz-Giraldo, Blair;
    • Ortiz-Corredor, Fernando;
    • Ospina-Lagos, Sandra Janeth;
    • Prieto, Juan Carlos;
    • Ruiz-Ospina, Edicson;
    • Ruiz-Botero, Felipe
    Publication type:
    Article
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    Genetic testing in a national cohort of adults with chronic kidney disease of unknown origin.

    Published in:
    Nephrology Dialysis Transplantation, 2025, v. 40, n. 6, p. 1225, doi. 10.1093/ndt/gfae270
    By:
    • Haan, Amber de;
    • Eijgelsheim, Mark;
    • Vogt, Liffert;
    • Hoorn, Ewout J;
    • Rotmans, Joris I;
    • Fortrie, Gijs;
    • Marsman, Roos F J;
    • Rothuizen, Tonia C;
    • Spijker, H Siebe;
    • Claus, Laura R;
    • Konings, Constantijn J A M;
    • Waanders, Femke;
    • Doornebal, Joan;
    • Kramer, Andrea B;
    • Adema, Aaltje Y;
    • van der Zwaag, Bert;
    • Eerde, Albertien M van;
    • Knoers, Nine V A M;
    • Borst, Martin H de
    Publication type:
    Article
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    General dermatology.

    Published in:
    Clinical & Experimental Dermatology, 2025, v. 50, n. 6, p. 1268, doi. 10.1093/ced/llaf091
    By:
    • Orr, Emily;
    • Stefanovic, Nicholas;
    • Watchorn, Richard
    Publication type:
    Article
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    Neonatal hereditary spherocytosis: a case report.

    Published in:
    Italian Journal of Pediatrics, 2025, v. 51, n. 1, p. 1, doi. 10.1186/s13052-025-02049-w
    By:
    • Coramusi, Carolina;
    • Lucangeli, Natalia;
    • Vadalà, Sarah;
    • Parisi, Pasquale;
    • Scapillati, Maria Eleonora
    Publication type:
    Article
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    Genomic Medicine: Applications in Disease Prevention and Treatment.

    Published in:
    Journal of Pharmacy & Bioallied Sciences, 2025, v. 17, p. S1101, doi. 10.4103/jpbs.jpbs_541_25
    By:
    • Patel, Harshkumar N.;
    • Patel, Nilam Hardik;
    • Mathukiya, Sanket;
    • Parekh, Bhavya Rajeshkumar;
    • Purohit, Kevin Ashokbhai;
    • Patel, Sahil Purushottambhai;
    • Patel, Jitendra
    Publication type:
    Article
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    FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium.

    Published in:
    Annals of Clinical & Translational Neurology, 2025, v. 12, n. 6, p. 1118, doi. 10.1002/acn3.70016
    By:
    • Cuillerier, Alexanne;
    • Del Gobbo, Giulia F.;
    • Mackay, Layla;
    • Wall, Erika;
    • Couse, Madeline;
    • McDonell, Laura M.;
    • Cloutier, Mireille;
    • Danzi, Matt C.;
    • Warman‐Chardon, Jodi;
    • Bourque, Pierre R.;
    • Suchowersky, Oksana;
    • Mears, Alan;
    • Seldenthuis, Luke;
    • Mears, Wendy;
    • Larrigan, Laura;
    • White‐Brown, Alexandre;
    • Pfeffer, Gerald;
    • Bulman, Dennis E.;
    • Dyment, David;
    • Boycott, Kym M.
    Publication type:
    Article
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