Works matching DE "GENETIC disorders"

Results: 5000
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    Epilepsy in KCNH1-related syndromes.

    Published in:
    Epileptic Disorders, 2016, v. 18, n. 2, p. 123, doi. 10.1684/epd.2016.0830
    By:
    • Mastrangelo, Mario;
    • Scheffer, Ingrid E.;
    • Bramswig, Nuria C.;
    • Nair, Lal. D.V.;
    • Myers, Candace T.;
    • Dentici, Maria Lisa;
    • Korenke, Georg C.;
    • Schoch, Kelly;
    • Campeau, Philippe M.;
    • White, Susan M.;
    • Shashi, Vandana;
    • Kansagra, Sujay;
    • Van Essen, Anthonie J.;
    • Leuzzi, Vincenzo
    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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    Diagnosis, management and treatment of the Alport syndrome – 2024 guideline on behalf of ERKNet, ERA and ESPN Open Access.

    Published in:
    Nephrology Dialysis Transplantation, 2025, v. 40, n. 6, p. 1091, doi. 10.1093/ndt/gfae265
    By:
    • Torra, Roser;
    • Lipska-Zietkiewicz, Beata;
    • Acke, Frederic;
    • Antignac, Corinne;
    • Becker, Jan Ulrich;
    • Gall, Emilie Cornec-Le;
    • Eerde, Albertien M van;
    • Feltgen, Nicolas;
    • Ferrari, Rossella;
    • Gale, Daniel P;
    • Gear, Susie;
    • Gross, Oliver;
    • Haeberle, Stefanie;
    • Heidet, Laurence;
    • Lennon, Rachel;
    • Massella, Laura;
    • Pfau, Kristina;
    • Pizarro, Maria del Prado Venegas;
    • Topaloglu, Rezan;
    • Wlodkowski, Tanja
    Publication type:
    Article
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    Ode to Insulin.

    Published in:
    Journal of Medical Humanities, 2025, v. 46, n. 2, p. 313, doi. 10.1007/s10912-024-09882-w
    By:
    • Morgan, Rachel
    Publication type:
    Article
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    Dravet syndrome: From neurodevelopmental to neurodegenerative disease?

    Published in:
    Epilepsia (Series 4), 2025, v. 66, n. 6, p. 1975, doi. 10.1111/epi.18329
    By:
    • Selvarajah, Arunan;
    • Sabo, Andrea;
    • Gorodetsky, Carolina;
    • Marques, Paula T.;
    • Chandran, Ilakkiah;
    • Thompson, Miles;
    • Zulfiqar Ali, Quratulain;
    • McAndrews, Mary Pat;
    • Tartaglia, Maria Carmela;
    • Lira, Victor S. T.;
    • Huh, Linda;
    • Connolly, Mary;
    • Rezazadeh, Arezoo;
    • Qaiser, Farah;
    • Fantaneanu, Tadeu A.;
    • Duong, Monica;
    • Barboza, Karen;
    • Lomax, Lysa Boissé;
    • Inuzuka Nakaharada, Luciana;
    • Valente, Kette
    Publication type:
    Article
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    Neurobiological basis of autism spectrum disorder: mini review.

    Published in:
    Frontiers in Psychology, 2025, p. 1, doi. 10.3389/fpsyg.2025.1558081
    By:
    • Holanda, Maria Vanessa Freitas;
    • Paiva, Eva da Silva;
    • de Souza, Larissa Nayara;
    • Paiva, Karina Maia;
    • Oliveira, Rodrigo Freire;
    • Tavares, Élyssa Adriolly Freitas;
    • Morais, Paulo Leonardo Araújo de Góis;
    • de Andrade, Ariel Moraes;
    • Knackfuss, Maria Irany;
    • do Nascimento, Ellany Gurgel Cosme;
    • Cavalcanti, José Rodolfo Lopes de Paiva
    Publication type:
    Article
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    II型神经纤维瘤病 1 例并文献复习.

    Published in:
    Journal of Clinical Neurosurgery / Linchuang Shenjingwaike Zazhi, 2025, v. 22, n. 2, p. 233, doi. 10.3969/j.issn.1672-7770.2025.02.021
    By:
    • 姚一燴;
    • 时金昭;
    • 甘强;
    • 王汉东
    Publication type:
    Article
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    EDITOR'S NOTE.

    Published in:
    Journal of the Indian Academy of Clinical Medicine, 2025, v. 26, n. 1/2, p. 1
    By:
    • Singla, Sumeet
    Publication type:
    Article
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    Advances in Management of Mitochondrial Myopathies.

    Published in:
    International Journal of Molecular Sciences, 2025, v. 26, n. 11, p. 5411, doi. 10.3390/ijms26115411
    By:
    • Bangeas, Athanasios;
    • Poulidou, Vasiliki;
    • Liampas, Ioannis;
    • Marogianni, Chrysa;
    • Aloizou, Athina-Maria;
    • Tsouris, Zisis;
    • Sgantzos, Markos;
    • Arnaoutoglou, Marianthi;
    • Bogdanos, Dimitrios P.;
    • Dardiotis, Efthimios;
    • Siokas, Vasileios
    Publication type:
    Article
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    Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge–Ropers Syndrome.

    Published in:
    Clinical Genetics, 2025, v. 107, n. 6, p. 646, doi. 10.1111/cge.14701
    By:
    • Trujillano, Laura;
    • Valenzuela, Irene;
    • Costa‐Roger, Mar;
    • Cuscó, Ivon;
    • Fernandez‐Alvarez, Paula;
    • Cueto‐González, Anna;
    • Lasa‐Aranzasti, Amaia;
    • Masotto, Bárbara;
    • Abulí, Anna;
    • Codina‐Solà, Marta;
    • del Campo, Miguel;
    • Ruiz Moreno, Juan Antonio;
    • Pardo Domínguez, Cristina;
    • Palma Milla, Carmen;
    • Pérez de la Fuente, Rubén;
    • Quesada‐Espinosa, Juan Francisco;
    • Núñez‐Enamorado, Noemí;
    • Gener, Blanca;
    • Ballesta‐Martínez, María Juliana;
    • Brea‐Fernández, Alejandro J.
    Publication type:
    Article
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