Hasil Pencarian - Alice S Brooks

  • Menampilkan 1 - 8 hasil dari 8
Perbaiki Hasil
  1. 1
    Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes

    Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes oleh Fenja Markus, Chloé Angelini, Aurelien Trimouille, Gabrielle Rudolf, Gaetan Lesca, Cyril Goizet, Eulalie Lasseaux, Benoit Arveiler, Marjon vanSlegtenhorst, Alice S. Brooks, Rami Abou Jamra, Georg‐Christoph Korenke, John Neidhardt, Marta Owczarek‐Lipska

    Diterbitkan 2020-09-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  2. 2
    TFAP2B Haploinsufficiency Impacts Gastrointestinal Function and Leads to Pediatric Intestinal Pseudo-obstruction

    TFAP2B Haploinsufficiency Impacts Gastrointestinal Function and Leads to Pediatric Intestinal Pseudo-obstruction oleh Almira Zada, Laura E. Kuil, Bianca M. de Graaf, Naomi Kakiailatu, Jonathan D. Windster, Jonathan D. Windster, Alice S. Brooks, Marjon van Slegtenhorst, Barbara de Koning, René M. H. Wijnen, Veerle Melotte, Veerle Melotte, Robert M. W. Hofstra, Erwin Brosens, Maria M. Alves

    Diterbitkan 2022-07-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  3. 3
    ERNICA guidelines for the management of rectosigmoid Hirschsprung’s disease

    ERNICA guidelines for the management of rectosigmoid Hirschsprung’s disease oleh Kristiina Kyrklund, Cornelius E. J. Sloots, Ivo de Blaauw, Kristin Bjørnland, Udo Rolle, Duccio Cavalieri, Paola Francalanci, Fabio Fusaro, Annette Lemli, Nicole Schwarzer, Francesco Fascetti-Leon, Nikhil Thapar, Lars Søndergaard Johansen, Dominique Berrebi, Jean-Pierre Hugot, Célia Crétolle, Alice S. Brooks, Robert M. Hofstra, Tomas Wester, Mikko P. Pakarinen

    Diterbitkan 2020-06-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  4. 4
    The Somatic Mutation Paradigm in Congenital Malformations: Hirschsprung Disease as a Model

    The Somatic Mutation Paradigm in Congenital Malformations: Hirschsprung Disease as a Model oleh Katherine C. MacKenzie, Rhiana Garritsen, Rajendra K. Chauhan, Yunia Sribudiani, Bianca M. de Graaf, Tim Rugenbrink, Rutger Brouwer, Wilfred F. J. van Ijcken, Ivo de Blaauw, Alice S. Brooks, Cornelius E. J. Sloots, Conny J. H. M. Meeuwsen, René M. Wijnen, Donald F. Newgreen, Alan J. Burns, Robert M. W. Hofstra, Maria M. Alves, Erwin Brosens

    Diterbitkan 2021-11-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  5. 5
    Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.

    Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development. oleh Laura E Kuil, Katherine C MacKenzie, Clara S Tang, Jonathan D Windster, Thuy Linh Le, Anwarul Karim, Bianca M de Graaf, Robert van der Helm, Yolande van Bever, Cornelius E J Sloots, Conny Meeussen, Dick Tibboel, Annelies de Klein, René M H Wijnen, Jeanne Amiel, Stanislas Lyonnet, Maria-Mercè Garcia-Barcelo, Paul K H Tam, Maria M Alves, Alice S Brooks, Robert M W Hofstra, Erwin Brosens

    Diterbitkan 2021-08-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  6. 6
    Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations.

    Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations. oleh Romy van de Putte, Charlotte H W Wijers, Heiko Reutter, Sita H Vermeulen, Carlo L M Marcelis, Erwin Brosens, Paul M A Broens, Markus Homberg, Michael Ludwig, Ekkehart Jenetzky, Nadine Zwink, Cornelius E J Sloots, Annelies de Klein, Alice S Brooks, Robert M W Hofstra, Sophie A C Holsink, Loes F M van der Zanden, Tessel E Galesloot, Paul Kwong-Hang Tam, Marloes Steehouwer, Rocio Acuna-Hidalgo, Maartje van de Vorst, Lambertus A Kiemeney, Maria-Mercè Garcia-Barceló, Ivo de Blaauw, Han G Brunner, Nel Roeleveld, Iris A L M van Rooij

    Diterbitkan 2019-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  7. 7
    A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies

    A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies oleh Romy van de Putte, Gabriel C. Dworschak, Gabriel C. Dworschak, Erwin Brosens, Erwin Brosens, Heiko M. Reutter, Heiko M. Reutter, Carlo L. M. Marcelis, Rocio Acuna-Hidalgo, Nehir E. Kurtas, Marloes Steehouwer, Sally L. Dunwoodie, Eberhard Schmiedeke, Stefanie Märzheuser, Nicole Schwarzer, Alice S. Brooks, Annelies de Klein, Cornelius E. J. Sloots, Dick Tibboel, Giulia Brisighelli, Giulia Brisighelli, Anna Morandi, Maria F. Bedeschi, Michael D. Bates, Michael D. Bates, Marc A. Levitt, Marc A. Levitt, Marc A. Levitt, Alberto Peña, Alberto Peña, Alberto Peña, Ivo de Blaauw, Nel Roeleveld, Han G. Brunner, Han G. Brunner, Iris A. L. M. van Rooij, Alexander Hoischen, Alexander Hoischen

    Diterbitkan 2020-06-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  8. 8
    Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

    Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. oleh Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A Graham, Sipko van Dam, Julie Hoover-Fong, Aida B Telegrafi, Anne Destree, Robert Smigiel, Lindsday A Lambie, Hülya Kayserili, Umut Altunoglu, Elisabetta Lapi, Maria Luisa Uzielli, Mariana Aracena, Banu G Nur, Ercan Mihci, Lilia M A Moreira, Viviane Borges Ferreira, Dafne D G Horovitz, Katia M da Rocha, Aleksandra Jezela-Stanek, Alice S Brooks, Heiko Reutter, Julie S Cohen, Ali Fatemi, Martin Smitka, Theresa A Grebe, Nataliya Di Donato, Charu Deshpande, Anthony Vandersteen, Charles Marques Lourenço, Andreas Dufke, Eva Rossier, Gwenaelle Andre, Alessandra Baumer, Careni Spencer, Julie McGaughran, Lude Franke, Joris A Veltman, Bert B A De Vries, Albert Schinzel, Simon E Fisher, Alexander Hoischen, Bregje W van Bon

    Diterbitkan 2017-03-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:

Alat Pencarian: