Search Results - Kramis, Mirelle

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  1. 1
    The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease

    The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease by Germain, Dominique P., Moiseev, Sergey, Suárez‐Obando, Fernando, Al Ismaili, Faisal, Al Khawaja, Huda, Altarescu, Gheona, Barreto, Fellype C., Haddoum, Farid, Hadipour, Fatemeh, Maksimova, Irina, Kramis, Mirelle, Nampoothiri, Sheela, Nguyen, Khanh Ngoc, Niu, Dau‐Ming, Politei, Juan, Ro, Long‐Sun, Vu Chi, Dung, Chen, Nan, Kutsev, Sergey

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  2. 2
    Generalized Dystonia and Paroxysmal Dystonic Attacks due to a Novel ATP1A3 Variant

    Generalized Dystonia and Paroxysmal Dystonic Attacks due to a Novel ATP1A3 Variant by Zúñiga-Ramírez, Carlos, Kramis-Hollands, Mirelle, Mercado-Pimentel, Rodrigo, González-Usigli, Héctor Alberto, Sáenz-Farret, Michel, Soto-Escageda, Alberto, Fasano, Alfonso

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  3. 3
    Dermochondrocorneal dystrophy (Francois syndrome) in a Mexican patient and literature review

    Dermochondrocorneal dystrophy (Francois syndrome) in a Mexican patient and literature review by Hidalgo-Bravo, Alberto, Acosta-Nieto, Maria L., Normendez-Martinez, Monica I., Rodriguez-Gonzalez, Nubia F., Paz-Gomez, Francisco, Valdes-Flores, Margarita, Kramis-Hollands, Mirelle

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  4. 4
    The benefits, challenges and regional differences of family screening in rare genetic diseases: Lessons from Fabry disease

    The benefits, challenges and regional differences of family screening in rare genetic diseases: Lessons from Fabry disease by Germain, Dominique P., Ismaili, Faisal Al, Al-Khawaja, Huda, Altarescu, Gheona, Barreto, Fellype C., Haddoum, Farid, Hadipour, Fatemeh, Kramis, Mirelle, Moiseev, Sergey, Nampoothiri, Sheela, Niu, Dau-Ming, Politei, Juan, Ro, Long-Sun, Suárez-Obando, Fernando, Vu, Dung C., Kutsev, Sergey

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  5. 5
    Beyond dystonia and ataxia: Expanding the phenotype of SQSTM1 mutations

    Beyond dystonia and ataxia: Expanding the phenotype of SQSTM1 mutations by Zúñiga-Ramírez, Carlos, de Oliveira, Lais Machado, Kramis-Hollands, Mirelle, Algarni, Musleh, Soto-Escageda, Alberto, Sáenz-Farret, Michel, González-Usigli, Héctor Alberto, Fasano, Alfonso

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  6. 6
    Generalized Dystonia and Paroxysmal Dystonic Attacks due to a Novel ATP1A3 Variant

    Generalized Dystonia and Paroxysmal Dystonic Attacks due to a Novel ATP1A3 Variant by Zúñiga-Ramírez, Carlos, Kramis-Hollands, Mirelle, Mercado-Pimentel, Rodrigo, González-Usigli, Héctor Alberto, Sáenz-Farret, Michel, Soto-Escageda, Alberto, Fasano, Alfonso

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  7. 7
    Generalized Dystonia and Paroxysmal Dystonic Attacks due to a Novel ATP1A3 Variant

    Generalized Dystonia and Paroxysmal Dystonic Attacks due to a Novel ATP1A3 Variant by Zúñiga-Ramírez, Carlos, Kramis-Hollands, Mirelle, Mercado-Pimentel, Rodrigo, González-Usigli, Héctor Alberto, Sáenz-Farret, Michel, Soto-Escageda, Alberto, Fasano, Alfonso

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