Human Mutation

Cover image for Vol. 33 Issue 10

October 2012

Volume 33, Issue 10

Pages v–v, 1397–1500, E2356–E2374

  1. In This Issue

    1. Top of page
    2. In This Issue
    3. Book Review
    4. Reviews
    5. Rapid Communications
    6. Brief Reports
    7. Research Articles
    8. Meeting Reports
    9. Databases in Brief
    1. You have free access to this content
      Classic EDS: Simply a type v collagen deficiency story? (page v)

      Richard Wenstrup

      Version of Record online: 13 SEP 2012 | DOI: 10.1002/humu.22584

  2. Book Review

    1. Top of page
    2. In This Issue
    3. Book Review
    4. Reviews
    5. Rapid Communications
    6. Brief Reports
    7. Research Articles
    8. Meeting Reports
    9. Databases in Brief
    1. You have free access to this content
      The Genome Generation by Elizabeth Finkel (page 1397)

      Ken Kraaijeveld

      Version of Record online: 11 JUL 2012 | DOI: 10.1002/humu.22140

  3. Reviews

    1. Top of page
    2. In This Issue
    3. Book Review
    4. Reviews
    5. Rapid Communications
    6. Brief Reports
    7. Research Articles
    8. Meeting Reports
    9. Databases in Brief
    1. Gaucher disease paradigm: From ERAD to comorbidity (pages 1398–1407)

      Inna Bendikov-Bar and Mia Horowitz

      Version of Record online: 11 JUN 2012 | DOI: 10.1002/humu.22124

    2. Analysis of the regulatory and catalytic domains of PTEN-induced kinase-1 (PINK1) (pages 1408–1422)

      Chou Hung Sim, Kipros Gabriel, Ryan D. Mills, Janetta G. Culvenor and Heung-Chin Cheng

      Version of Record online: 5 JUL 2012 | DOI: 10.1002/humu.22127

  4. Rapid Communications

    1. Top of page
    2. In This Issue
    3. Book Review
    4. Reviews
    5. Rapid Communications
    6. Brief Reports
    7. Research Articles
    8. Meeting Reports
    9. Databases in Brief
    1. Molecular characterization of Joubert syndrome in Saudi Arabia (pages 1423–1428)

      Anas M. Alazami, Muneera J. Alshammari, Mustafa A. Salih, Fatema Alzahrani, Hadia Hijazi, Mohammed Z. Seidahmed, Leen Abu Safieh, Mazhor Aldosary, Arif O. Khan and Fowzan S. Alkuraya

      Version of Record online: 11 JUL 2012 | DOI: 10.1002/humu.22134

    2. Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism (pages 1429–1434)

      Anas M. Alazami, Mohammad Al-Owain, Fatema Alzahrani, Taghreed Shuaib, Hussain Al-Shamrani, Yahya H. Al-Falki, Saleh M. Al-Qahtani, Tarfa Alsheddi, Dilek Colak and Fowzan S. Alkuraya

      Version of Record online: 30 AUG 2012 | DOI: 10.1002/humu.22175

  5. Brief Reports

    1. Top of page
    2. In This Issue
    3. Book Review
    4. Reviews
    5. Rapid Communications
    6. Brief Reports
    7. Research Articles
    8. Meeting Reports
    9. Databases in Brief
    1. Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1 (pages 1435–1438)

      Barak Markus, Ginat Narkis, Daniella Landau, Ruth Z. Birk, Idan Cohen and Ohad S. Birk

      Version of Record online: 7 JUN 2012 | DOI: 10.1002/humu.22122

    2. PRRT2 Mutations are the major cause of benign familial infantile seizures (pages 1439–1443)

      Julian Schubert, Roberta Paravidino, Felicitas Becker, Andrea Berger, Nerses Bebek, Amedeo Bianchi, Knut Brockmann, Giuseppe Capovilla, Bernardo Dalla Bernardina, Yukio Fukuyama, Georg F. Hoffmann, Karin Jurkat-Rott, Anna-Kaisa Anttonen, Gerhard Kurlemann, Anna-Elina Lehesjoki, Frank Lehmann-Horn, Massimo Mastrangelo, Ulrike Mause, Stephan Müller, Bernd Neubauer, Burkhard Püst, Dietz Rating, Angela Robbiano, Susanne Ruf, Christopher Schroeder, Andreas Seidel, Nicola Specchio, Ulrich Stephani, Pasquale Striano, Jens Teichler, Dilsad Turkdogan, Federico Vigevano, Maurizio Viri, Peter Bauer, Federico Zara, Holger Lerche and Yvonne G. Weber

      Version of Record online: 11 JUN 2012 | DOI: 10.1002/humu.22126

    3. Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome—Osteogenesis imperfecta phenotypic spectrum (pages 1444–1449)

      Maria Trinidad Puig-Hervás, Samia Temtamy, Mona Aglan, Maria Valencia, Víctor Martínez-Glez, María Juliana Ballesta-Martínez, Vanesa López-González, Adel M. Ashour, Khalda Amr, Veronica Pulido, Encarna Guillén-Navarro, Pablo Lapunzina, José A. Caparrós-Martín and Victor L. Ruiz-Perez

      Version of Record online: 5 JUL 2012 | DOI: 10.1002/humu.22133

  6. Research Articles

    1. Top of page
    2. In This Issue
    3. Book Review
    4. Reviews
    5. Rapid Communications
    6. Brief Reports
    7. Research Articles
    8. Meeting Reports
    9. Databases in Brief
    1. Identification of novel rare mutations of DACT1 in human neural tube defects (pages 1450–1455)

      Yan Shi, Yi Ding, Yun-Ping Lei, Xue-Yan Yang, Guo-Ming Xie, Jun Wen, Chun-Quan Cai, Hong Li, Ying Chen, Ting Zhang, Bai-Lin Wu, Li Jin, Ye-Guang Chen and Hong-Yan Wang

      Version of Record online: 19 JUN 2012 | DOI: 10.1002/humu.22121

    2. The mechanism of BH4-responsive hyperphenylalaninemia—As it occurs in the ENU1/2 genetic mouse model (pages 1464–1473)

      Christineh N. Sarkissian, Ming Ying, Tanja Scherer, Beat Thöny and Aurora Martinez

      Version of Record online: 2 JUL 2012 | DOI: 10.1002/humu.22128

    3. Congenital myasthenic syndromes: Achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: A study of 680 patients (pages 1474–1484)

      Angela Abicht, Marina Dusl, Constanze Gallenmüller, Velina Guergueltcheva, Ulrike Schara, Adele Della Marina, Eva Wibbeler, Sybille Almaras, Violeta Mihaylova, Maja von der Hagen, Angela Huebner, Amina Chaouch, Juliane S. Müller and Hanns Lochmüller

      Version of Record online: 27 JUN 2012 | DOI: 10.1002/humu.22130

    4. Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria (pages 1485–1493)

      Sofie Symoens, Delfien Syx, Fransiska Malfait, Bert Callewaert, Julie De Backer, Olivier Vanakker, Paul Coucke and Anne De Paepe

      Version of Record online: 5 JUL 2012 | DOI: 10.1002/humu.22137

  7. Meeting Reports

    1. Top of page
    2. In This Issue
    3. Book Review
    4. Reviews
    5. Rapid Communications
    6. Brief Reports
    7. Research Articles
    8. Meeting Reports
    9. Databases in Brief
    1. You have free access to this content
      Solving bottlenecks in data sharing in the life sciences (pages 1494–1496)

      Raymond Dalgleish, Eva Molero, Richard Kidd, Mascha Jansen, Daniela Past, Anika Robl, Barend Mons, Carlos Diaz, Albert Mons and Anthony J. Brookes

      Version of Record online: 18 JUN 2012 | DOI: 10.1002/humu.22123

    2. You have free access to this content
  8. Databases in Brief

    1. Top of page
    2. In This Issue
    3. Book Review
    4. Reviews
    5. Rapid Communications
    6. Brief Reports
    7. Research Articles
    8. Meeting Reports
    9. Databases in Brief
    1. You have free access to this content
      A modular approach to disease registry design: Successful adoption of an internet-based rare disease registry (pages E2356–E2366)

      Matthew I Bellgard, Andrew Macgregor, Fred Janon, Adam Harvey, Peter O'Leary, Adam Hunter and Hugh Dawkins

      Version of Record online: 2 JUL 2012 | DOI: 10.1002/humu.22154

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