Search Results - Van Winckel, Geraldine

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  1. 1
    Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly

    Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly by El Mouatani, Ahmed, Van Winckel, Géraldine, Zaafrane‐Khachnaoui, Khaoula, Whalen, Sandra, Achaiaa, Amale, Kaltenbach, Sophie, Superti‐Furga, Andrea, Vekemans, Michel, Fodstad, Heidi, Giuliano, Fabienne, Attie‐Bitach, Tania

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  2. 2
    Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy

    Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy by Van Winckel, Géraldine, Ballhausen, Diana, Wolf, Barry, Procter, Melinda, Mao, Rong, Burda, Patricie, Strambo, Davide, Kuntzer, Thierry, Tran, Christel

    Published in Frontiers in neurology
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  3. 3
    Homozygous substitution of threonine 191 by proline in polymerase η causes Xeroderma pigmentosum variant

    Homozygous substitution of threonine 191 by proline in polymerase η causes Xeroderma pigmentosum variant by Ricciardiello, Roberto, Forleo, Giulia, Cipolla, Lina, van Winckel, Geraldine, Marconi, Caterina, Nouspikel, Thierry, Halazonetis, Thanos D., Zgheib, Omar, Sabbioneda, Simone

    Published in Scientific reports
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  4. 4
    De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures

    De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures by Royer-Bertrand, Beryl, Jequier Gygax, Marine, Cisarova, Katarina, Rosenfeld, Jill A, Bassetti, Jennifer A, Moldovan, Oana, O'Heir, Emily, Burrage, Lindsay C, Allen, Jake, Emrick, Lisa T, Eastman, Emma, Kumps, Camille, Abbas, Safdar, Van Winckel, Geraldine, Chabane, Nadia, Zackai, Elaine H, Lebon, Sebastien, Keena, Beth, Bhoj, Elizabeth J, Umair, Muhammad, Li, Dong, Donald, Kirsten A, Superti-Furga, Andrea

    Published in Molecular autism
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  5. 5
    Classical homocystinuria, is it safe to exercise?

    Classical homocystinuria, is it safe to exercise? by Tankeu, Aurel T., Van Winckel, Geraldine, Campos-Xavier, Belinda, Braissant, Olivier, Pedro, Rosette, Superti-Furga, Andrea, Amati, Francesca, Tran, Christel

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  6. 6
    When Simple Phlebotomy Is the Cure: Porphyria Cutanea Tarda

    When Simple Phlebotomy Is the Cure: Porphyria Cutanea Tarda by Pavlidou, Despina Christina, Van Winckel, Geraldine, Tran, Christel

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  7. 7
    Biotinidase deficiency: What have we learned in forty years?

    Biotinidase deficiency: What have we learned in forty years? by Tankeu, Aurel T., Van Winckel, Geraldine, Elmers, Jolanda, Jaccard, Evrim, Superti-Furga, Andrea, Wolf, Barry, Tran, Christel

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  8. 8
    Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly

    Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly by El Mouatani, Ahmed, Van Winckel, Géraldine, Zaafrane-Khachnaoui, Khaoula, Whalen, Sandra, Achaiaa, Amale, Kaltenbach, Sophie, Superti-Furga, Andrea, Vekemans, Michel, Fodstad, Heidi, Giuliano, Fabienne, Attie-Bitach, Tania

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  9. 9
    Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy

    Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy by Van Winckel, Géraldine, Ballhausen, Diana, Wolf, Barry, Procter, Melinda, Mao, Rong, Burda, Patricie, Strambo, Davide, Kuntzer, Thierry, Tran, Christel

    Published in Frontiers in neurology
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