检索结果 - Dafne D. G. Horovitz

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  1. 1
    Hematopoietic Stem Cell Transplantation in Mucopolysaccharidosis Type II

    Hematopoietic Stem Cell Transplantation in Mucopolysaccharidosis Type II 由 Anneliese Lopes Barth, Dafne D. G. Horovitz

    出版 2018
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  2. 2
    Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia

    Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia 由 Maria Eduarda Gomes, Thatiane Yoshie Kanazawa, Fernanda R. Riba, Natálya G. Pereira, Maria Célia Chaves Zuma, Natana Chaves Rabelo, Maria Teresa Vieira Sanseverino, Dafne D. G. Horovitz, Juan Clinton Llerena, Denise P. Cavalcanti, Sayonara Gonzalez

    出版 2018
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  3. 3
    NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation

    NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation 由 Vincenzo A. Gennarino, Callison E Alcott, Chun‐An Chen, Arindam Chaudhury, Madelyn A. Gillentine, Jill A. Rosenfeld, Sumit Parikh, James W. Wheless, Elizabeth Roeder, Dafne D. G. Horovitz, Erin K. Roney, Janice Smith, Sau Wai Cheung, Wei Li, Joel R. Neilson, Christian P. Schaaf, Huda Y. Zoghbi

    出版 2015
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    Artigo
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  4. 4
    ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

    ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies 由 Éva Morava, Vera Tiemes, Christian Thiel, Nathalie Seta, Pascale de Lonlay, Hans de Klerk, Margot F. Mulder, M. Estela Rubio‐Gozalbo, Gepke Visser, Peter van Hasselt, Dafne D. G. Horovitz, Carolina Fischinger Moura de Souza, Ida Vanessa Döederlein Schwartz, Andrew Green, Mohammed Al‐Owain, Graciella Uziel, Sabine Sigaudy, B. Chabrol, Franc‐Jan van Spronsen, Martin Steinert, Eleni Komini, Donald Wurm, Andrea Bevot, Addelkarim Ayadi, Karin Huijben, Marli Dercksen, Peter Witters, Jaak Jaeken, Gert Matthijs, Dirk J. Lefeber, Ron A. Wevers

    出版 2016
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  5. 5
    Erratum to: ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

    Erratum to: ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies 由 Éva Morava, Vera Tiemes, Christian Thiel, Nathalie Seta, Pascale de Lonlay, Hans de Klerk, Margot F. Mulder, M. Estela Rubio‐Gozalbo, Gepke Visser, Peter van Hasselt, Dafne D. G. Horovitz, Carolina Fischinger Moura de Souza, Ida Vanessa Döederlein Schwartz, Andrew Green, Mohammed Al‐Owain, Graciella Uziel, Sabine Sigaudy, B. Chabrol, Franc‐Jan van Spronsen, Martin Steinert, Eleni Komini, Donald Wurm, Andrea Bevot, Addelkarim Ayadi, Karin Huijben, Marli Dercksen, Peter Witters, Jaak Jaeken, Gert Matthijs, Dirk J. Lefeber, Ron A. Wevers

    出版 2016
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