Ngā hua rapu - Sandrine Vuillaumier‐Barrot

  • E whakaatu ana i te 1 - 13 hua o te 13
Whakamahine hua
  1. 1
    Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy

    Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy mā Carmen Barba, Francesca Darra, Raffaella Cusmai, Elena Procopio, Carlo Dionisi‐Vici, Liesbeth Keldermans, Sandrine Vuillaumier‐Barrot, Dirk J. Lefeber, Renzo Guerrini

    I whakaputaina 2016
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  2. 2
    G894T Polymorphism in the Endothelial Nitric Oxide Synthase Gene Is Associated With an Enhanced Vascular Responsiveness to Phenylephrine

    G894T Polymorphism in the Endothelial Nitric Oxide Synthase Gene Is Associated With an Enhanced Vascular Responsiveness to Phenylephrine mā Ivan Philip, Gaëtan Plantefève, Sandrine Vuillaumier‐Barrot, Éric Vicaut, Claude Lemarié, Daniel Henrion, Odette Poirier, Bernard Lévy, J. M. Desmonts, Geneviève Durand, Joëlle Bénessiano

    I whakaputaina 1999
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  3. 3
    A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity

    A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity mā Sahar Sabry, Sandrine Vuillaumier‐Barrot, E. Mintet, Magali Fasseu, Vassili Valayannopoulos, D. Héron, Nathalie Dorison, Cyril Mignot, Nathalie Seta, Isabelle Chantret, Thierry Dupré, Stuart Moore

    I whakaputaina 2016
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  4. 4
    Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

    Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia) mā Gert Matthijs, Els Schollen, Cecilia Bjursell, Anna Erlandson, Hudson H. Freeze, Faiqa Imtiaz, Søren K. Kjærgaard, Tommy Martinsson, M. Schwartz, Nathalie Seta, Sandrine Vuillaumier‐Barrot, Vibeke Westphal, Bryan Winchester

    I whakaputaina 2000
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  5. 5
    A Deficiency in Dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl α3-Glucosyltransferase Defines a New Subtype of Congenital Disorders of Glycosylation

    A Deficiency in Dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl α3-Glucosyltransferase Defines a New Subtype of Congenital Disorders of Glycosylation mā Isabelle Chantret, Julia Dancourt, Thierry Dupré, Christophe Delenda, Stéphanie Bucher, Sandrine Vuillaumier‐Barrot, Hélène Ogier de Baulny, Céline Peletan, Olivier Danos, Nathalie Seta, Geneviève Durand, Rafaël Oriol, Patrice Codogno, Stuart Moore

    I whakaputaina 2003
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  6. 6
    Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene

    Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene mā Nigel F. Clarke, Svetlana Maugenre, Aurélie Vandebrouck, J. Andoni Urtizberea, Tobias Willer, Rachel A. Peat, Françoise Gray, C Bouchet, Hiroshi Manya, Sandrine Vuillaumier‐Barrot, Tamao Endo, Éliane Chouery, Kevin P. Campbell, André Mégarbané, Pascale Guicheney

    I whakaputaina 2011
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  7. 7
    Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation

    Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation mā Anna Čechová, Ruqaiah Altassan, Delphine Borgel, Arnaud Bruneel, Joana Correia, M Girard, Annie Harroche, Beata Kieć‐Wilk, Klaus Mohnike, Tiffany Pascreau, Łukasz Pawliński, Silvia Radenkovic, Sandrine Vuillaumier‐Barrot, Luis Aldámiz‐Echevarría, María L. Couce, Esmeralda Martins, Dulce Quelhas, Éva Morava, Pascale de Lonlay, Peter Witters, Tomáš Honzík

    I whakaputaina 2020
    Whiwhi kuputuhi katoa
    Revisão
    Tiaki ki tētahi rārangi
    I tiakina i:
  8. 8
    A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

    A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases mā Pascale de Lonlay, Nathalie Seta, Sandrine Vuillaumier Barrot, B. Chabrol, Valérie Drouin, Bernard Gabriel, Hubert Journel, M. Kretz, J. Laurent, M. Le Merrer, A. Leroy, D. Pedespan, P. Sardá, Nathalie Villeneuve, J. Schmitz, Emile Van Schaftingen, Gert Matthijs, Jaak Jaeken, Christian Körner, A. Munnich, J. M. Saudubray, Valérie Cormier‐Daire

    I whakaputaina 2001
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  9. 9
    <scp><i>GGPS1</i></scp>‐associated muscular dystrophy with and without hearing loss

    <scp><i>GGPS1</i></scp>‐associated muscular dystrophy with and without hearing loss mā Rauan Kaiyrzhanov, Luke Perry, Clarissa Rocca, Maha S. Zaki, Heba Hosny, Cristiane Araújo Martins Moreno, Rahul Phadke, Irina Zaharieva, Clara Camelo Gontijo, Christian Beetz, Veronica Pini, Mojtaba Movahedinia, Edmar Zanoteli, Stephanie DiTroia, Sandrine Vuillaumier‐Barrot, Arnaud Isapof, Mohammad Yahya Vahidi Mehrjardi, Nasrin Ghasemi, Anna Sárközy, Francesco Muntoni, Sandra Whalen, Barbara Vona, Henry Houlden, Reza Maroofian

    I whakaputaina 2022
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  10. 10
    A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis

    A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis mā Matthew P. Wilson, Takfarinas Kentache, Charlotte R. Althoff, Céline Schulz, Geoffroy de Bettignies, Garcia Patricia Cabrera, Loreta Cimbalistienė, Birutė Burnytė, Grace Yoon, Gregory Costain, Sandrine Vuillaumier‐Barrot, David Cheillan, Daisy Rymen, Lucie Rychtárová, Hana Hansíková, Marina Bury, Joseph P. Dewulf, Francesco Caligiore, Jaak Jaeken, Vincent Cantagrel, Emile Van Schaftingen, Gert Matthijs, François Foulquier, Guido T. Bommer

    I whakaputaina 2024
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  11. 11
    Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly

    Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly mā Sandrine Vuillaumier‐Barrot, C. Bouchet-Séraphin, M. Chelbi, Louise Devisme, Samuel Quentin, Steven Gazal, Annie Laquerrière, Catherine Fallet‐Bianco, Philippe Loget, Sylvie Odent, Dominique Carles, Anne Bazin, Jacqueline Aziza, Alix Clémenson, Fabien Guimiot, Maryse Bonnière, Sophie Monnot, Christine Bôle‐Feysot, Jean‐Pierre Bernard, Laurence Lœuillet, Marie Gonzalès, Koryna Socha, Bernard Grandchamp, Tania Attié‐Bitach, Férechté Encha‐Razavi, Nathalie Seta

    I whakaputaina 2012
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  12. 12
    Molecular heterogeneity in fetal forms of type II lissencephaly

    Molecular heterogeneity in fetal forms of type II lissencephaly mā C Bouchet, M. Gonzalés, Sandrine Vuillaumier‐Barrot, Louise Devisme, C. Lebizec, Elisabeth Alanio, Anne Bazin, B. Bessières-Grattagliano, Nicole Bigi, Patricia Blanchet, Dominique Bonneau, Maryse Bonnières, Dominique Carles, Sophie Delahaye, Catherine Fallet‐Bianco, Dominique Figarella‐Branger, Dominique Gaillard, B. Gasser, Fabien Guimiot, Madeleine Joubert, Nicole Laurent, Agnès Liprandi, Philippe Loget, Pascale Marcorelles, Jéléna Martinovic, F. Menez, Sophie Patrier, Fanny Pelluard-Nehmé, Marie-José Perez, C. Rouleau-Dubois, Stéphane Triau, A. Laquérrière, Férechté Encha‐Razavi, Nathalie Seta

    I whakaputaina 2007
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  13. 13
    Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies

    Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies mā Louise Devisme, C Bouchet, Marie Gonzalès, Elisabeth Alanio, Anne Bazin, Bettina Bessières, Nicole Bigi, Patricia Blanchet, Dominique Bonneau, Maryse Bonnières, Martine Bucourt, Dominique Carles, Bénédicte Clarisse, S. Delahaye, Catherine Fallet‐Bianco, Dominique Figarella‐Branger, Dominique Gaillard, Bernard Gasser, Anne‐Lise Delezoide, Fabien Guimiot, Madeleine Joubert, Nicole Laurent, Annie Laquerrière, Agnès Liprandi, Philippe Loget, Pascale Marcorelles, Jéléna Martinovic, Françoise Ménez, Sophie Patrier, Fanny Pelluard, Marie-José Perez, Caroline Rouleau, Stéphane Triau, Tania Attié‐Bitach, Sandrine Vuillaumier‐Barrot, Nathalie Seta, Férechté Encha‐Razavi

    I whakaputaina 2012
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:

Ngā utauta rapu: