检索结果 - Lisbeth Tranebjærg

Refine Results
  1. 1
    Erratum: Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia

    Erratum: Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia 由 Chen Sun, Lisbeth Tranebjærg, T. Torbergsen, Gösta Holmgren, Marijke Van Ghelue

    出版 2010
    获取全文 获取全文
    Errata/Corrigenda
    加到收藏夹
    Saved in:
  2. 2
    Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia

    Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia 由 Chen Sun, Lisbeth Tranebjærg, T. Torbergsen, Gösta Holmgren, Marijke Van Ghelue

    出版 2001
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  3. 3
    Provision of genetic services in Europe: current practices and issues

    Provision of genetic services in Europe: current practices and issues 由 Béatrice Godard, Helena Kääriäinen, Ulf Kristoffersson, Lisbeth Tranebjærg, Domenico Coviello, Ségolène Aymé

    出版 2003
    获取全文 获取全文
    Revisão
    加到收藏夹
    Saved in:
  4. 4
    Individual Hearing Loss

    Individual Hearing Loss 由 Sébastien Santurette, Torsten Dau, Jakob Christensen‐Dalsgaard, Lisbeth Tranebjærg, Ture Andersen, Torben Poulsen

    出版 2016
    获取全文 获取全文
    Editorial
    加到收藏夹
    Saved in:
  5. 5
    Identification of novel USH2A mutations: implications for the structure of USH2A protein

    Identification of novel USH2A mutations: implications for the structure of USH2A protein 由 Bo Dreyer, Lisbeth Tranebjærg, Thomas Rosenberg, Michael D. Weston, William J. Kimberling, Øivind Nilssen

    出版 2000
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  6. 6
    Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified

    Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified 由 Lars Hestbjerg Hansen, Hans Eiberg, Timothy Barrett, Toke Bek, Per Kjærsgaard, Lisbeth Tranebjærg, Thomas Rosenberg

    出版 2005
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  7. 7
    Spectrum of Mutations in α-Mannosidosis

    Spectrum of Mutations in α-Mannosidosis 由 Thomas Berg, Hilde Monica Frostad Riise, Gaute Martin Hansen, Dag Malm, Lisbeth Tranebjærg, Ole Kristian Tollersrud, Øivind Nilssen

    出版 1999
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  8. 8
    A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.

    A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. 由 Lisbeth Tranebjærg, Charles E. Schwartz, H Eriksen, Sten Andréasson, Vesna Ponjavic, Andrew Dahl, Roger E. Stevenson, Melanie May, Fernando Arena, David Barker

    出版 1995
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  9. 9
    Branchio–oto–renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses

    Branchio–oto–renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses 由 K. M. Sanggaard, Nanna Dahl Rendtorff, Klaus Kjaer, Hans Eiberg, Torsten Johnsen, Steen Gimsing, Jørgen Dyrmose, Kristian Otto Nielsen, Kasper Lage, Lisbeth Tranebjærg

    出版 2007
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  10. 10
    Screening for Mutations and Polymorphisms in the Genes KCNH2 and KCNE2 Encoding the Cardiac HERG/MiRP1 Ion Channel: Implications for Acquired and Congenital Long Q-T Syndrome

    Screening for Mutations and Polymorphisms in the Genes KCNH2 and KCNE2 Encoding the Cardiac HERG/MiRP1 Ion Channel: Implications for Acquired and Congenital Long Q-T Syndrome 由 Lars Allan Larsen, Paal Skytt Andersen, Jørgen K. Kanters, Ida Hastrup Svendsen, Joes Ramsøe Jacobsen, Jens Vuust, Göran Wettrell, Lisbeth Tranebjærg, Jørn Bathen, Michael Christiansen

    出版 2001
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  11. 11
    Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration*

    Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration* 由 Tina Storm, Lisbeth Tranebjærg, Carina Frykholm, Henrik Birn, P Verroust, Tryggve Nevéus, Birgitta Sundelin, Jens Michael Hertz, Gerd Holmström, Katharina Ericson, Erik Christensen, Rikke Nielsen

    出版 2012
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  12. 12
    IsK and KvLQT1: Mutation in Either of the Two Subunits of the Slow Component of the Delayed Rectifier Potassium Channel Can Cause Jervell and Lange-Nielsen Syndrome

    IsK and KvLQT1: Mutation in Either of the Two Subunits of the Slow Component of the Delayed Rectifier Potassium Channel Can Cause Jervell and Lange-Nielsen Syndrome 由 Jess Tyson, Lisbeth Tranebjærg, S. Bellman, Christopher Wren, J F Taylor, Jørn Bathen, Bjørn Aslaksen, Svein Sörland, Ole Lund, S Malcolm, Marcus Pembrey, S. K. Bhattacharya, Maria Bitner‐Glindzicz

    出版 1997
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  13. 13
    Mutation update on the CHD7 gene involved in CHARGE syndrome

    Mutation update on the CHD7 gene involved in CHARGE syndrome 由 Nicole Janssen, Jorieke E. H. Bergman, Morris A. Swertz, Lisbeth Tranebjærg, Marianne Lodahl, Jeroen Schoots, Robert M.W. Hofstra, Conny M.A. van Ravenswaaij‐Arts, Lies H. Hoefsloot

    出版 2012
    获取全文
    Revisão
    加到收藏夹
    Saved in:
  14. 14
    Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation

    Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation 由 Nina McTiernan, Lisbeth Tranebjærg, Anna Steensen Bjørheim, Jacob S. Hogue, William G. Wilson, Berkley Schmidt, Melissa M. Boerrigter, Maja L. Nybo, Marie Falkenberg Smeland, Zeynep Tümer, Thomas Arnesen

    出版 2022
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  15. 15
    Mutations in Two Genes Encoding Different Subunits of a Receptor Signaling Complex Result in an Identical Disease Phenotype

    Mutations in Two Genes Encoding Different Subunits of a Receptor Signaling Complex Result in an Identical Disease Phenotype 由 Juha Paloneva, Tuula Manninen, Grant P. Christman, Karine Hovanes, Jami Mandelin, Rolf Adolfsson, Marino Muxfeldt Bianchin, Thomas D. Bird, Roxana Miranda, Andrea Salmaggi, Lisbeth Tranebjærg, Yrjö T. Konttinen, Leena Peltonen

    出版 2002
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  16. 16
    Developing a policy for paediatric biobanks: principles for good practice

    Developing a policy for paediatric biobanks: principles for good practice 由 Kristien Hens, Carla E Van El, Pascal Borry, Anne Cambon‐Thomsen, Martina C. Cornel, Francesca Forzano, Anneke Lucassen, Christine Patch, Lisbeth Tranebjærg, Eric Vermeulen, Elena Salvaterra, Aad Tibben, Kris Dierickx

    出版 2012
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  17. 17
    Genes and languages in Europe: an analysis of mitochondrial lineages.

    Genes and languages in Europe: an analysis of mitochondrial lineages. 由 Antti Sajantila, Päivi Lahermo, Tiiu Anttinen, Matti Lukka, P. Sistonen, M.-L. Savontaus, P Aula, L. Beckman, Lisbeth Tranebjærg, Tobias Gedde‐Dahl, Laurie Issel‐Tarver, Anna Di Rienzo, Svante Pääbo

    出版 1995
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  18. 18
    EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome

    EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome 由 Amy Farmer, Ségolène Aymé, Miguel López de Heredia, Pietro Maffei, Susan McCafferty, Wojciech Młynarski, Virginia Nunes, Kay Parkinson, Véronique Paquis‐Flucklinger, Julia Rohayem, Richard Sinnott, Vallo Tillmann, Lisbeth Tranebjærg, Timothy Barrett

    出版 2013
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  19. 19
    A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome

    A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome 由 Jorieke E. H. Bergman, Nicole Janssen, Almer M. van der Sloot, Hermien E. K. de Walle, Jeroen Schoots, Nanna Dahl Rendtorff, Lisbeth Tranebjærg, Lies H. Hoefsloot, Conny M.A. van Ravenswaaij‐Arts, Robert M.W. Hofstra

    出版 2012
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  20. 20
    Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics.

    Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics. 由 Carla van El, Martina C. Cornel, Pascal Borry, Ros Hastings, Florence Fellmann, Shirley V. Hodgson, Heidi Howard, Anne Cambon‐Thomsen, Bartha Maria Knoppers, Hanne Meijers‐Heijboer, Hans Scheffer, Lisbeth Tranebjærg, Wybo Dondorp, Guido M. W. R. de Wert

    出版 2013
    获取全文
    Artigo
    加到收藏夹
    Saved in:

检索工具: