Resultados de procura - Mirella Vinci

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  1. 1
    Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies

    Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies por Luigi Vetri, Francesco Calı̀, Salvatore Saccone, Mirella Vinci, Valeria Chiavetta, Marco Carotenuto, Michele Roccella, Carola Costanza, Maurizio Elia

    Publicado 2024
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  2. 2
    A de novo ARIH2 gene mutation was detected in a patient with autism spectrum disorders and intellectual disability

    A de novo ARIH2 gene mutation was detected in a patient with autism spectrum disorders and intellectual disability por Mirella Vinci, Simone Treccarichi, Rosanna Galati Rando, Antonino Musumeci, Valeria Todaro, Concetta Federico, Salvatore Saccone, Maurizio Elia, Francesco Calı̀

    Publicado 2024
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  3. 3
    Potential Association of the CSMD1 Gene with Moderate Intellectual Disability, Anxiety Disorder, and Obsessive–Compulsive Personality Traits

    Potential Association of the CSMD1 Gene with Moderate Intellectual Disability, Anxiety Disorder, and Obsessive–Compulsive Personality Traits por Antonino Musumeci, Mirella Vinci, Simone Treccarichi, Donatella Greco, Biagio Rizzo, Angelo Gloria, Concetta Federico, Salvatore Saccone, S Musumeci, Francesco Calı̀

    Publicado 2025
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  4. 4
    Potential Role of ABCF2 Gene in Pudendal Nerve Neuropathy and Interstitial Cystitis

    Potential Role of ABCF2 Gene in Pudendal Nerve Neuropathy and Interstitial Cystitis por Antonino Musumeci, Mirella Vinci, Simone Treccarichi, Alda Ragalmuto, Giuseppe Bruno, Giordana Tinnirello, Jessica Farina, Concetta Federico, Salvatore Saccone, Francesco Calı̀, Daniele Porru

    Publicado 2025
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  5. 5
    Investigating the Role of the Zinc Finger Protein ZC2HC1C on Autism Spectrum Disorder Susceptibility

    Investigating the Role of the Zinc Finger Protein ZC2HC1C on Autism Spectrum Disorder Susceptibility por Simone Treccarichi, Mirella Vinci, Antonino Musumeci, Rosanna Galati Rando, Carla Papa, Salvatore Saccone, Concetta Federico, Pinella Failla, Martino Ruggieri, Francesco Calı̀, Agata Polizzi, Andrea D. Praticò

    Publicado 2025
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  6. 6
    Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

    Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains por Madeleine R. Geisheker, Gabriel Heymann, Tianyun Wang, Bradley P. Coe, Tychele N. Turner, Holly A.F. Stessman, Kendra Hoekzema, Malin Kvarnung, Marie Shaw, Kathryn Friend, Jan Liebelt, Christopher Barnett, Elizabeth M. Thompson, Eric Haan, Hui Guo, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand, Geert Vandeweyer, A Alberti, Emanuela Avola, Mirella Vinci, Stefania Giusto, Tiziano Pramparo, Karen Pierce, Srinivasa Nalabolu, Jacob J. Michaelson, Zdeněk Sedláček, Gijs W.E. Santen, Hilde Peeters, Hákon Hákonarson, Eric Courchesne, Corrado Romano, R. Frank Kooy, Raphael Bernier, Magnus Nordenskjöld, Jozef Gécz, Kun Xia, Larry S. Zweifel, Evan E. Eichler

    Publicado 2017
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  7. 7
    A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

    A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency por Sandra Jansen, Alexander Hoischen, Bradley P. Coe, Gemma L. Carvill, Hilde Van Esch, Daniëlle G.M. Bosch, Ulla A. Andersen, Carl Baker, Marijke Bauters, Raphael Bernier, Bregje W.M. van Bon, Hedi L. Claahsen‐van der Grinten, Jozef Gécz, Christian Gilissen, Lucia Grillo, Anna Hackett, Tjitske Kleefstra, David A. Koolen, Malin Kvarnung, Martin J. Larsen, Carlo Marcelis, F. Ellis McKenzie, Marie-Lorraine Monin, Caroline Nava, Janneke Schuurs-Hoeijmakers, Rolph Pfundt, Marloes Steehouwer, Servi J.C. Stevens, Connie T. R. M. Stumpel, Fleur Vansenne, Mirella Vinci, Maartje van de Vorst, Petra de Vries, Kali Witherspoon, Joris A. Veltman, Han G. Brunner, Heather C. Mefford, Corrado Romano, Lisenka E.L.M. Vissers, Evan E. Eichler, Bert B.A. de Vries

    Publicado 2017
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  8. 8
    Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

    Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases por Holly A.F. Stessman, Bo Xiong, Bradley P. Coe, Tianyun Wang, Kendra Hoekzema, Michaela Fencková, Malin Kvarnung, Jennifer Gerdts, Sandy Trinh, Nele Cosemans, Laura Vives, Janice Lin, Tychele N. Turner, Gijs W.E. Santen, Claudia Ruivenkamp, Marjolein Kriek, Arie van Haeringen, Emmelien Aten, Kathryn Friend, Jan Liebelt, Christopher Barnett, Eric Haan, Marie Shaw, Jozef Gécz, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand, Charles E. Schwartz, R. Frank Kooy, Geert Vandeweyer, Céline Helsmoortel, Corrado Romano, A Alberti, Mirella Vinci, Emanuela Avola, Stefania Giusto, Eric Courchesne, Tiziano Pramparo, Karen Pierce, Srinivasa Nalabolu, David G. Amaral, Ingrid E. Scheffer, Martin B. Delatycki, Paul J. Lockhart, Fereydoun Hormozdiari, Benjamin Harich, Anna Castells‐Nobau, Kun Xia, Hilde Peeters, Magnus Nordenskjöld, Annette Schenck, Raphael Bernier, Evan E. Eichler

    Publicado 2017
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