Ngā hua rapu - Ronen Spiegel

Whakamahine hua
  1. 1
    Acute neonatal suppurative parotitis: case reports and review

    Acute neonatal suppurative parotitis: case reports and review mā Ronen Spiegel, Dan Miron, Waheeb Sakran, Yoseph Horovitz

    I whakaputaina 2004
    Whiwhi kuputuhi katoa
    Revisão
    Tiaki ki tētahi rārangi
    I tiakina i:
  2. 2
    Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy

    Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy mā Ronen Spiegel, Ann Saada, Jonatan Halvardson, Devorah Soiferman, Avraham Shaag, Simon Edvardson, Yoseph Horovitz, Morad Khayat, Stavit A. Shalev, Lars Feuk, Orly Elpeleg

    I whakaputaina 2013
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  3. 3
    Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy

    Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy mā Boris Fichtman, Fadia Zagairy, Nitzan Biran, Yiftah Barsheshet, Elena Chervinsky, Ziva Ben Neriah, Avraham Shaag, Michael Assa, Orly Elpeleg, Amnon Harel, Ronen Spiegel

    I whakaputaina 2019
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  4. 4
    Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency

    Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency mā Lucia Abela, Ronen Spiegel, Lisa M. Crowther, Andrea Klein, Katharina Steindl, Sorina Mihaela Papuc, Pascal Joset, Yoav Zehavi, Anita Rauch, Barbara Plecko, Thomas L. Simmons

    I whakaputaina 2017
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  5. 5
    Early maturation and hyperexcitability is a shared phenotype of cortical neurons derived from different ASD-associated mutations

    Early maturation and hyperexcitability is a shared phenotype of cortical neurons derived from different ASD-associated mutations mā Yara Hussein, Utkarsh Tripathi, Ashwani Choudhary, Ritu Nayak, David Peles, Idan Rosh, Tatiana Rabinski, Jose Djamus, Gad D. Vatine, Ronen Spiegel, Tali Garin-Shkolnik, Shani Stern

    I whakaputaina 2023
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  6. 6
    Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2

    Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2 mā Ronen Spiegel, Ophry Pines, Asaf Ta‐Shma, Efrat Burak, Avraham Shaag, Jonatan Halvardson, Simon Edvardson, Muhammad Mahajna, Shamir Zenvirt, Ann Saada, Stavit A. Shalev, Lars Feuk, Orly Elpeleg

    I whakaputaina 2012
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  7. 7
    Delineation of C12orf65-related phenotypes: a genotype–phenotype relationship

    Delineation of C12orf65-related phenotypes: a genotype–phenotype relationship mā Ronen Spiegel, Hanna Mandel, Ann Saada, Issy Lerer, Ayala Burger, Avraham Shaag, Stavit A. Shalev, Haneen Jabaly-Habib, Dorit Goldsher, John M. Gomori, Alex Lossos, Orly Elpeleg, Vardiella Meiner

    I whakaputaina 2014
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  8. 8
    Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies

    Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies mā Bernd Schwahn, Francjan J. van Spronsen, Albert Misko, Julija Pavaine, Victoria Holmes, Ronen Spiegel, Günter Schwarz, Flora Y. Wong, Alistair Horman, James Pitt, Jörn Oliver Sass, Charlotte M. A. Lubout

    I whakaputaina 2024
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
    Tiaki ki tētahi rārangi
    I tiakina i:
  9. 9
    Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors

    Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors mā Juan Darío Ortigoza‐Escobar, Majid Alfadhel, Marta Molero‐Luis, Niklas Darín, Ronen Spiegel, I.F.M. de Coo, Mike Gerards, Robert W. Taylor, Rafael Artuch, Marwan Nashabat, Pilar Rodríguez‐Pombo, Brahim Tabarki, Belén Pérez‐Dueñas

    I whakaputaina 2017
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  10. 10
    Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome Is Caused by a POC1A Mutation

    Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome Is Caused by a POC1A Mutation mā Ofer Sarig, Sagi Nahum, Debora Rapaport, Akemi Ishida‐Yamamoto, Dana Fuchs‐Telem, Qiaoli Li, Ksenya Cohen‐Katsenelson, Ronen Spiegel, Janna Nousbeck, Shirli Israeli, Z Borochowitz, Gilly Padalon‐Brauch, Jouni Uitto, Mia Horowitz, Stavit A. Shalev, Eli Sprecher

    I whakaputaina 2012
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  11. 11
    Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous<i>OPA1</i>mutation

    Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous<i>OPA1</i>mutation mā Ronen Spiegel, Ann Saada, Padraig J. Flannery, Florence Burté, Devorah Soiferman, Morad Khayat, Verónica Eisner, Eugene Vladovski, Robert W. Taylor, Laurence A. Bindoff, Avraham Shaag, Hanna Mandel, Ora Schuler-Furman, Stavit A. Shalev, Orly Elpeleg, Patrick Yu‐Wai‐Man

    I whakaputaina 2015
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  12. 12
    Alopecia, Neurological Defects, and Endocrinopathy Syndrome Caused by Decreased Expression of RBM28, a Nucleolar Protein Associated with Ribosome Biogenesis

    Alopecia, Neurological Defects, and Endocrinopathy Syndrome Caused by Decreased Expression of RBM28, a Nucleolar Protein Associated with Ribosome Biogenesis mā Janna Nousbeck, Ronen Spiegel, Akemi Ishida‐Yamamoto, Margarita Indelman, Ayelet Shani‐Adir, Noam Adir, E. Lipkin, Sivan Bercovici, Dan Geiger, Maurice A. M. Van Steensel, Peter M. Steijlen, Richard N. Bergman, Albrecht Bindereif, Mordechai Choder, Stavit A. Shalev, Eli Sprecher

    I whakaputaina 2008
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  13. 13
    Sengers syndrome caused by biallelic TIMM29 variants and RNAi silencing in Drosophila orthologue recapitulates the human phenotype

    Sengers syndrome caused by biallelic TIMM29 variants and RNAi silencing in Drosophila orthologue recapitulates the human phenotype mā Adel Shalata, Ann Saada, Mohammed Mahroum, Yarin Hadid, Chaya Furman, Zaher Eldin Shalata, Robert J. Desnick, Avraham Lorber, Asaad Khoury, Adnan Higazi, Avraham Shaag, V. Barash, Ronen Spiegel, Euvgeni Vlodavsky, Pierre Rustin, Shmuel Pietrokovski, Irena Manov, Dan Gieger, Galit Tal, Adi Salzberg, Hanna Mandel

    I whakaputaina 2025
    Whiwhi kuputuhi katoa
    Revisão
    Tiaki ki tētahi rārangi
    I tiakina i:
  14. 14
    Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop

    Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop mā Sarah C. Grünert, Terry G. J. Derks, Helen Mundy, R. Neil Dalton, Jean Donadieu, Peter Hofbauer, Neil D. Jones, Sema Kalkan Uçar, Jamas LaFreniere, Enrique Contreras, Surekha Pendyal, Alessandro Rossi, Blair Schneider, Ronen Spiegel, Karolina M. Stępień, Dorota Wesół‐Kucharska, Maria Veiga‐da‐Cunha, Saskia B. Wortmann

    I whakaputaina 2024
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  15. 15
    Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

    Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI mā Andrea Poretti, Giuseppina Vitiello, Raoul C. M. Hennekam, Filippo Arrigoni, Enrico Bertini, Renato Borgatti, Francesco Brancati, Stefano D’Arrigo, Francesca Faravelli, Lucio Giordano, Thierry A.G.M. Huisman, Miriam Iannicelli, Gerhard Kluger, Mårten Kyllerman, Magnus Landgren, Melissa Lees, Lorenzo Pinelli, Romina Romaniello, Ianina Scheer, Christoph E. Schwarz, Ronen Spiegel, Daniel Tibussek, Enza Maria Valente, Eugen Boltshauser

    I whakaputaina 2012
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  16. 16
    Genetic spectrum of hereditary neuropathies with onset in the first year of life

    Genetic spectrum of hereditary neuropathies with onset in the first year of life mā Jonathan Baets, Tine Deconinck, Els De Vriendt, M. Zimoń, Laetitia Yperzeele, Kim Van Hoorenbeeck, Kristien Peeters, Ronen Spiegel, Yeşim Parman, Berten Ceulemans, Patrick Van Bogaert, A Pou-Serradell, G. Bernert, Argyrios Dinopoulos, Michaela Auer‐Grumbach, Satu‐Leena Sallinen, Gian Maria Fabrizi, F. Pauly, Peter Van den Bergh, Birdal Bilir, Esra Battaloğlu, R. E. Madrid, Dagmara Kabzińska, Andrzej Kochański, Haluk Topaloğlu, G. Miller, Albena Jordanova, Vincent Timmerman, Peter De Jonghe

    I whakaputaina 2011
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  17. 17
    Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

    Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting mā Liat Samuelov, Ofer Sarig, Robert M. Harmon, Debora Rapaport, Akemi Ishida‐Yamamoto, Ofer Isakov, Jennifer L. Koetsier, Andrea Gat, Ilan Goldberg, Richard N. Bergman, Ronen Spiegel, Ori Eytan, Shamir Geller, Sarit Peleg, Noam Shomron, Christabelle S.M. Goh, Neil Wilson, Frances J.D. Smith, Elizabeth Pöhler, Michael A. Simpson, W.H. Irwin McLean, Alan D. Irvine, Mia Horowitz, John A. McGrath, Kathleen J. Green, Eli Sprecher

    I whakaputaina 2013
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  18. 18
    Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease’ in Italy

    Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease’ in Italy mā Martina Nemethova, Ján Radvánszky, Ľudevít Kádaši, David B. Ascher, Douglas E. V. Pires, Tom L. Blundell, Berardino Porfirio, Alessandro Mannoni, Annalisa Santucci, Lia Milucci, Silvia Sestini, G. Biolcati, Fiammetta Sorge, Caterina Aurizi, R Aquaron, Mohammed Alsbou, Charles Marques Lourenço, K. Ramadevi, L. Ranganath, James A. Gallagher, Christa van Kan, Anthony K Hall, Birgitta Olsson, Nicolas Sireau, Hana Ayoob, Oliver Timmis, Kim‐Hanh Le Quan Sang, Federica Genovese, Richard Imrich, Jozef Rovenský, Rangan Srinivasaraghavan, Shruthi K. Bharadwaj, Ronen Spiegel, Andrea Zaťková

    I whakaputaina 2015
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  19. 19
    Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

    Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response mā Gillian Rice, Jacquelyn Bond, Aruna Asipu, Rebecca Brunette, Iain W. Manfield, Ian Carr, Jonathan C. Fuller, Richard M. Jackson, Teresa M. Lamb, Tracy A. Briggs, Manir Ali, Hannah Gornall, Lydia R Couthard, Alec Aeby, Simon Attard-Montalto, Enrico Bertini, Christine Bodemer, Knut Brockmann, Louise Brueton, Peter Corry, Isabelle Desguerre, Elisa Fazzi, Àngels García Cazorla, Blanca Gener, Ben C.J. Hamel, Arvid Heiberg, Matthew F. Hunter, Marjo S. van der Knaap, Ram Kumar, Lieven Lagae, P. Landrieu, Charles Marques Lourenço, Daphna Marom, Michael McDermott, William van der Merwe, Simona Orcesi, Julie Prendiville, Magnhild Rasmussen, Stavit A. Shalev, Doriette Soler, Marwan Shinawi, Ronen Spiegel, Tiong Yang Tan, Adeline Vanderver, Emma Wakeling, Evangeline Wassmer, Elizabeth Whittaker, Pierre Lebon, Daniel B. Stetson, David T. Bonthron, Yanick J. Crow

    I whakaputaina 2009
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  20. 20
    Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

    Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study mā Gillian Rice, Gabriella Forte, Marcin Szynkiewicz, Diana Chase, Alec Aeby, Mohamed S. Abdel‐Hamid, Sam Ackroyd, Rebecca Allcock, Kathryn Bailey, Umberto Balottin, Christine Barnérias, Geneviève Bernard, Christine Bodemer, M.P. Botella, Cristina Cereda, Kate Chandler, Lyvia Dabydeen, Russell C. Dale, Corinne De Laet, Christian G E L De Goede, Mireia del Toro, Laila K. Effat, Noemí Núñez Enamorado, Elisa Fazzi, Blanca Gener, Madli Haldre, Jean‐Pierre Lin, John H. Livingston, Charles Marques Lourenço, Wilson Marques, P.J. Oades, Pärt Peterson, Magnhild Rasmussen, Agathe Roubertie, Johanna Schmidt, Stavit A. Shalev, Rogelio Simón, Ronen Spiegel, Kathryn J. Swoboda, Samia A. Temtamy, Grace Vassallo, Catheline Vilain, Julie Vogt, Vanessa Wermenbol, William Whitehouse, Doriette Soler, Ivana Olivieri, Simona Orcesi, Mona Aglan, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Adeline Vanderver, Kai Kisand, Flore Rozenberg, Pierre Lebon, Yanick J. Crow

    I whakaputaina 2013
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:

Ngā utauta rapu: