檢索結果 - Callum Wilson

  • Showing 1 - 11 results of 11
Refine Results
  1. 1
    Personal practice: Autosomal recessive osteopetrosis: diagnosis, management, and outcome

    Personal practice: Autosomal recessive osteopetrosis: diagnosis, management, and outcome 由 Callum Wilson

    出版 2000
    獲取全文 獲取全文
    Revisão
    加到收藏夾
    Saved in:
  2. 2
    Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis

    Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis 由 Callum Wilson, M. P Champion, Jane Collins, Peter T. Clayton, J V Leonard

    出版 1999
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  3. 3
    Fatal Congenital Heart Glycogenosis Caused by a Recurrent Activating R531Q Mutation in the γ2-Subunit of AMP-Activated Protein Kinase (PRKAG2), Not by Phosphorylase Kinase Deficiency

    Fatal Congenital Heart Glycogenosis Caused by a Recurrent Activating R531Q Mutation in the γ2-Subunit of AMP-Activated Protein Kinase (PRKAG2), Not by Phosphorylase Kinase Deficien... 由 Barbara Burwinkel, John W. Scott, Christoph Bührer, Frank K.H. van Landeghem, Gerald F. Cox, Callum Wilson, D. Grahame Hardie, Manfred W. Kilimann

    出版 2005
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  4. 4
    The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter

    The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter 由 Eija Siintola, Meral Topçu, Nina Aula, Hannes Lohi, Berge A. Minassian, Andrew D. Paterson, Xiaoqing Liu, Callum Wilson, Ulla Lahtinen, Anna-Kaisa Anttonen, Anna-Elina Lehesjoki

    出版 2007
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  5. 5
    Comparison of early outcomes of arthroscopic labral repair or debridement: a study using the UK Non-Arthroplasty Hip Registry dataset

    Comparison of early outcomes of arthroscopic labral repair or debridement: a study using the UK Non-Arthroplasty Hip Registry dataset 由 Holleyman, Richard James, Lyman, Stephen, Bankes, Marcus J. K., Board, Tim Nicholas, Conroy, Jonathan Lee, McBryde, Callum Wilson, Andrade, Antonio Jose, Malviya, Ajay, Khanduja, Vikas

    出版 2022
    獲取全文 獲取全文 獲取全文
    Text
    加到收藏夾
    Saved in:
  6. 6
    Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma

    Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma 由 A. T. Pagnamenta, Jan‐Willem Taanman, Callum Wilson, Neil E. Anderson, Rosetta Marotta, A. J. Duncan, Maria Bitner Glindzicz, Rachael W. Taylor, Adrienne Laskowski, David R. Thorburn, S. Rahman

    出版 2006
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  7. 7
    Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin

    Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin 由 Peter Huppke, Cornelia Brendel, Vera M. Kalscheuer, Georg Christoph Korenke, Iris Marquardt, Peter Freisinger, John Christodoulou, Merle Hillebrand, Gaële Pitelet, Callum Wilson, U Gruber‐Sedlmayr, Reinhard Ullmann, Stefan A. Haas, Orly Elpeleg, Gudrun Nürnberg, Peter Nürnberg, Shzeena Dad, Lisbeth Birk Møller, Stephen G. Kaler, Jutta Gärtner

    出版 2012
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  8. 8
    High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

    High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency 由 Sarah E. Calvo, Elena J. Tucker, Alison G. Compton, Denise M. Kirby, Gabriel Crawford, Noël P. Burtt, Manuel A. Rivas, Candace Guiducci, Damien L. Bruno, Olga Goldberger, Michelle C Redman, Esko Wiltshire, Callum Wilson, David Altshuler, Stacey B. Gabriel, Mark J. Daly, David R. Thorburn, Vamsi K. Mootha

    出版 2010
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  9. 9
    New NBIA subtype

    New NBIA subtype 由 Penelope Hogarth, Allison Gregory, Michael C. Kruer, Lynn Sanford, Wendy Wagoner, Marvin R. Natowicz, Robert T. Egel, S.H. Subramony, Jennifer G. Goldman, Elizabeth Berry‐Kravis, Nicola Foulds, Simon Hammans, Isabelle Desguerre, Diana Rodriguez, Callum Wilson, Andrea Diedrich, Sarah Green, Huong Tran, Lindsay C. Reese, Randall L. Woltjer, Susan J. Hayflick

    出版 2012
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  10. 10
    Can untreated PKU patients escape from intellectual disability? A systematic review

    Can untreated PKU patients escape from intellectual disability? A systematic review 由 Danique van Vliet, Annemiek M. J. van Wegberg, Kirsten Ahring, Mirosław Bik-Multanowski, Nenad Blau, Fatma Derya Bulut, Kari Casas, Bożena Didycz, Maja Djordjevic, Antonio Federico, François Feillet, Maria Giżewska, Gwendolyn Gramer, Jozef Hertecant, Carla E. M. Hollak, Jens Veilemand Jørgensen, Daniela Karall, Yuval E. Landau, Vincenzo Leuzzi, Per Mathisen, Kathryn Moseley, Neslihan Önenli Mungan, Francesca Nardecchia, Katrin Õunap, Kimberly K. Powell, Radha Ramachandran, Frank Rutsch, Aria Setoodeh, Maja Stojiljković, F. K. Trefz, Uşurelu Natalia, Callum Wilson, Clara D. van Karnebeek, William Hanley, Francjan J. van Spronsen

    出版 2018
    獲取全文 獲取全文
    Revisão
    加到收藏夾
    Saved in:
  11. 11
    Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function

    Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function 由 Gillian Rice, Sehoon Park, Francesco Gavazzi, Laura Adang, Loveline A. Ayuk, Lien Van Eyck, Luís Seabra, Christophe Barrea, Roberta Battini, Alexandre Bélot, Stefan Berg, Thierry Billette de Villemeur, Annette Bley, Lubov Blumkin, Odile Boespflug‐Tanguy, Tracy A. Briggs, Elise Brimble, Russell C. Dale, Niklas Darín, François‐Guillaume Debray, Valentina De Giorgis, Jonas Denecke, Diane Doummar, Gunilla Drake af Hagelsrum, Despina Eleftheriou, Margherita Estienne, Elisa Fazzi, François Feillet, Jessica Galli, Nicholas Hartog, Julie Harvengt, Bénédicte Héron, Delphine Héron, D. Kelly, Dorit Lev, Virginie Levrat, John H. Livingston, Itxaso Martí, Cyril Mignot, Fanny Mochel, Marie‐Christine Nouguès, Ilena Oppermann, Belén Pérez‐Dueñas, Bernt Popp, Mathieu P. Rodero, Diana Rodriguez, Veronica Saletti, C. M. SHARPE, Davide Tonduti, Gayatri Vadlamani, Keith Van Haren, Miguel Tomás Vila, Julie Vogt, Evangeline Wassmer, Arnaud Wiedemann, Callum Wilson, Ayelet Zerem, Christiane Zweier, Sameer M. Zuberi, Simona Orcesi, Adeline Vanderver, Sun Hur, Yanick J. Crow

    出版 2020
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:

檢索工具: