Arama Sonuçları - Isabelle Nelson

  • Gösterilen 1 - 9 sonuçlar arası kayıtlar. 9
Sonuçları Daraltın
  1. 1
    MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity

    MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity Yazar: Michael G. Hanna, Isabelle Nelson, J A Morgan-Hughes, Nicholas Wood

    Baskı/Yayın Bilgisi 1998
    Tam Metin Erişim
    Artigo
    Favorilerime ekle
    Kaydedildi:
  2. 2
    Cytochrome c Oxidase Deficiency Associated with the First Stop-Codon Point Mutation in Human mtDNA

    Cytochrome c Oxidase Deficiency Associated with the First Stop-Codon Point Mutation in Human mtDNA Yazar: Michael G. Hanna, Isabelle Nelson, Shamima Rahman, R. Lane, J. Land, S Heales, Jonathan M. Cooper, Anthony H.V. Schapira, J A Morgan-Hughes, Nicholas Wood

    Baskı/Yayın Bilgisi 1998
    Tam Metin Erişim Tam Metin Erişim
    Artigo
    Favorilerime ekle
    Kaydedildi:
  3. 3
    Distinctive Serum miRNA Profile in Mouse Models of Striated Muscular Pathologies

    Distinctive Serum miRNA Profile in Mouse Models of Striated Muscular Pathologies Yazar: Nicolas Vignier, Fatima Amor, Paul Fogel, Angélique Duvallet, Jérôme Poupiot, Sabine Charrier, Michel Arock, Marie Montus, Isabelle Nelson, Isabelle Richard, Lucie Carrier, Laurent Servais, Thomas Voit, Gisèle Bonne, David Israeli

    Baskı/Yayın Bilgisi 2013
    Tam Metin Erişim Tam Metin Erişim
    Artigo
    Favorilerime ekle
    Kaydedildi:
  4. 4
    A Missense Mutation of Cytochrome Oxidase Subunit II Causes Defective Assembly and Myopathy

    A Missense Mutation of Cytochrome Oxidase Subunit II Causes Defective Assembly and Myopathy Yazar: Shamima Rahman, Jan‐Willem Taanman, Jonathan M. Cooper, Isabelle Nelson, I. Hargreaves, Brigitte Meunier, Michael G. Hanna, Joaquín J. García, Roderick Capaldi, Brian Lake, James V. Leonard, Anthony H.V. Schapira

    Baskı/Yayın Bilgisi 1999
    Tam Metin Erişim
    Artigo
    Favorilerime ekle
    Kaydedildi:
  5. 5
    An mtDNA Mutation in the Initiation Codon of the Cytochrome C Oxidase Subunit II Gene Results in Lower Levels of the Protein and a Mitochondrial Encephalomyopathy

    An mtDNA Mutation in the Initiation Codon of the Cytochrome C Oxidase Subunit II Gene Results in Lower Levels of the Protein and a Mitochondrial Encephalomyopathy Yazar: Kim M. Clark, Robert W. Taylor, Margaret A. Johnson, Patrick F. Chinnery, Zofia M. Chrzanowska‐Lightowlers, Richard M. Andrews, Isabelle Nelson, Nicholas Wood, Phillipa J. Lamont, Michael G. Hanna, Robert N. Lightowlers, Douglass M. Turnbull

    Baskı/Yayın Bilgisi 1999
    Tam Metin Erişim Tam Metin Erişim
    Artigo
    Favorilerime ekle
    Kaydedildi:
  6. 6
    A new titinopathy

    A new titinopathy Yazar: Rafael de Cid, Rabah Ben Yaou, Carinne Roudaut, Karine Charton, Sylvain Baulande, France Leturcq, Norma B. Romero, Edoardo Malfatti, Maud Beuvin, Anna Vihola, Audrey Criqui, Isabelle Nelson, Juliette Nectoux, Laurène Ben Aim, Christophe Caloustian, Robert Olaso, Bjarne Udd, Gisèle Bonne, B. Eymard, Isabelle Richard

    Baskı/Yayın Bilgisi 2015
    Tam Metin Erişim
    Artigo
    Favorilerime ekle
    Kaydedildi:
  7. 7
    Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

    Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea Yazar: Stéphanie Bauché, S O’Regan, Yoshiteru Azuma, Fanny Laffargue, Grace McMacken, Damien Sternberg, Guy Brochier, Céline Buon, Nassima Bouzidi, Ana Töpf, Emmanuelle Lacène, Ganaëlle Remérand, A. M. Beaufrére, Céline Pebrel‐Richard, Julien Thévenon, Salima El Chehadeh-Djebbar, Laurence Faivre, Yannis Duffourd, Federica Ricci, Tiziana Mongini, Chiara Fiorillo, Guja Astrea, Carmen Burloiu, Niculina Butoianu, Carmen Sandu, Laurent Servais, Gisèle Bonne, Isabelle Nelson, Isabelle Desguerre, Marie-Christine Nougues, Benoît Bœuf, Norma B. Romero, Jocelyn Laporte, Anne Boland, Doris Lechner, Jean‐François Deleuze, Bertrand Fontaine, Laure Strochlic, Hanns Lochmüller, B. Eymard, M. Mayer, Sophie Nicole

    Baskı/Yayın Bilgisi 2016
    Tam Metin Erişim
    Artigo
    Favorilerime ekle
    Kaydedildi:
  8. 8
    Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

    Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy Yazar: Hong Joo Kim, Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O’Donovan, Maura Coughlin, Xavière Lornage, Nicola Foulds, Simon Hammans, A. Reghan Foley, Charlotte M. Fare, Alice F. Ford, Masashi Ogasawara, Aki Sato, Aritoshi Iida, Pinki Munot, Gautam Ambegaonkar, Rahul Phadke, Dominic G. O’Donovan, Rebecca Buchert, Mona Grimmel, Ana Töpf, Irina Zaharieva, Lauren Brady, Ying Hu, Thomas E. Lloyd, Andrea Klein, Maja Steinlin, Alice Kuster, Sandra Mercier, Pascale Marcorelles, Yann Péréon, Emmanuelle Fleurence, Adnan Manzur, Sarah Ennis, Rosanna Upstill‐Goddard, Luca Bello, Cinzia Bertolin, Elena Pegoraro, Leonardo Salviati, Courtney E. French, Andriy Shatillo, F. Lucy Raymond, Tobias B. Haack, Susana Quijano‐Roy, Johann Böhm, Isabelle Nelson, Tanya Stojkovic, Teresinha Evangelista, Volker Straub, Norma B. Romero, Jocelyn Laporte, Francesco Muntoni, Ichizo Nishino, Mark A. Tarnopolsky, James Shorter, Carsten G. Bönnemann, J. Paul Taylor

    Baskı/Yayın Bilgisi 2022
    Tam Metin Erişim Tam Metin Erişim
    Artigo
    Favorilerime ekle
    Kaydedildi:
  9. 9
    Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

    Solving patients with rare diseases through programmatic reanalysis of genome-phenome data Yazar: Leslie Matalonga, Carles Hernández-Ferrer, Davide Piscia, Enzo Cohen, Isabel Cuesta, Daniel Danis, Anne‐Sophie Denommé‐Pichon, Yannis Duffourd, Christian Gilissen, Mridul Johari, Steven Laurie, Shuang Li, Leslie Matalonga, Isabelle Nelson, Sophia Peters, Ida Paramonov, Prasanth Sivakumar, Peter N. Robinson, Karolis Sablauskas, Marco Savarese, Wouter Steyaert, Joeri K. van der Velde, Antonio Vitobello, Rebecca Schüle, Matthis Synofzik, Ana Töpf, Lisenka E.L.M. Vissers, Richarda de Voer, Stefan Aretz, Gabriel Capellà, Richarda M. de Voer, D. Gareth Evans, José Garcia‐Pelaez, Elke Holinski‐Feder, Nicoline Hoogerbrugge, Andreas Laner, Carla Oliveíra, Andreas Rump, Evelin Schröck, Anna Katharina Sommer, Verena Steinke‐Lange, Iris te Paske, Marc Tischkowitz, Laura Valle, Siddharth Banka, Elisa Benetti, Giorgio Casari, Andrea Ciolfi, Jill Clayton‐Smith, Bruno Dallapiccola, Elke de Boer, Anne‐Sophie Denommé‐Pichon, Kornelia Ellwanger, Laurence Faivre, Holm Graessner, Tobias B. Haack, Anna Hammarsjö, Markéta Havlovičová, Alexander Hoischen, Anne Hugon, Adam Jackson, Tjitske Kleefstra, Anna Lindstrand, Estrella López‐Martín, Milan Macek, Manuela Morleo, Vicenzo Nigro, Ann Nordgren, Maria Pettersson, Annalaura Torella, Simone Pizzi, Manuel Posada, Francesca Clementina Radio, Alessandra Renieri, Caroline Rooryck, Lukáš Ryba, Martin Schwarz, Marco Tartaglia, Christel Thauvin, Annalaura Torella, Aurélien Trimouille, Alain Verloès, Lisenka E.L.M. Vissers, Antonio Vitobello, Pavel Votýpka, Klea Vyshka, Birte Zurek, Jonathan Baets, Danique Beijer, Gisèle Bonne, Enzo Cohen, Judith Cossins, Teresinha Evangelista, Alessandra Ferlini, Peter Hackman, Michael G. Hanna, Rita Horváth, Henry Houlden, Mridul Johari, Jarred Lau

    Baskı/Yayın Bilgisi 2021
    Tam Metin Erişim Tam Metin Erişim
    Artigo
    Favorilerime ekle
    Kaydedildi:

Arama Araçları: