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  15. Authors: Damian Smedley, Sebastian Kohler, William Bone, Anika Oellrich, Jules Jacobsen, Kai Wang, Chris Mungall, Nicole Washington, Sebastian Bauer, Dominic Seelow, Peter Krawitz, Cornelius Boerkel, Christian Gilissen, Melissa Haendel, Suzanna E Lewis and Peter N Robinson
    Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):O19
    Content type: Oral presentation Published on:

    This article is part of a Supplement: Volume 9 Supplement 1

  33. Authors: Jill Wood, Stuart Siedman, Jennifer Siedman, Paul Levy, Kyle Brown, Kim McBride, Kevin Flanigan, Raquel Marques, Arleta Feldman, Robert PleHcha and Sean Ekins
    Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):P7
    Content type: Poster presentation Published on:

    This article is part of a Supplement: Volume 9 Supplement 1

  35. Authors: Libby Wood, Teresinha Evangelista, Fiona Norwood, Richard Orrell, Marita Pohlschmidt, Mark Busby, Andrew Graham, David Hilton-Jones, Cheryl Longman, Peter Lunt, Mark Roberts, Stuart Watt, Suzanne Watt, Tracey Willis and Hanns Lochmüller
    Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):P6
    Content type: Poster presentation Published on:

    This article is part of a Supplement: Volume 9 Supplement 1

  37. Authors: Verónica Alonso, Ignacio Abaitua, Óscar Zurriaga, Jenaro Astray, Manuel Errezola, Josefa M Aldana-Espinal, Mario J Margolles, Josep Jiménez, Joaquín A Palomar, Milagrosa Santana, Enrique Ramalle-Gomarra, Julián M Ramos, Federico E Arribas, Rufino Álamo, Gonzalo Gutiérrez-Ávila, Antònia Galmés…
    Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):P5
    Content type: Poster presentation Published on:

    This article is part of a Supplement: Volume 9 Supplement 1

  47. We studied the differences in immunoreactive trypsin (IRT) in neonatal screening for cystic fibrosis (CF) associated individually with the age of the newborn, ethnicity and environmental temperature. In this s...

    Authors: Ernesto Cortés, Ana María Roldán, Antonio Palazón-Bru, María Mercedes Rizo-Baeza, Herminia Manero and Vicente Francisco Gil-Guillén
    Citation: Orphanet Journal of Rare Diseases 2014 9:166
    Content type: Research Published on:

  48. Severe to profound sensorineural hearing loss (SNHL) requires cochlear implantation (CI) for auditory rehabilitation. Etiologic diagnoses can contribute to candidacy selection and decision-making regarding the...

    Authors: Joo Hyun Park, Nayoung K D Kim, Ah Reum Kim, Jihye Rhee, Seung Ha Oh, Ja-Won Koo, Jae-Yong Nam, Woong-Yang Park and Byung Yoon Choi
    Citation: Orphanet Journal of Rare Diseases 2014 9:167
    Content type: Research Published on:

  49. The Birt-Hogg-Dubé syndrome is a rare cancer susceptibility syndrome characterised by renal tumours, lung cysts and pneumothoraces, and fibrofolliculomas. It is caused by dominantly inherited mutations in FLCN. O...

    Authors: Patrick R Benusiglio, Sophie Giraud, Sophie Deveaux, Arnaud Méjean, Jean-Michel Correas, Dominique Joly, Marc-Olivier Timsit, Sophie Ferlicot, Virginie Verkarre, Caroline Abadie, Dominique Chauveau, Dominique Leroux, Marie-Françoise Avril, Jean-François Cordier and Stéphane Richard
    Citation: Orphanet Journal of Rare Diseases 2014 9:163
    Content type: Research Published on:

  50. Allogeneic hematopoietic stem cell transplantation is mainly indicated in bone marrow dysfunction related to blood diseases, but also in some rare diseases (adrenoleucodystrophy, mitochondrial neurogastrointes...

    Authors: Marie-Christine Vantyghem, Jérôme Cornillon, Christine Decanter, Frédérique Defrance, Wassila Karrouz, Clara Leroy, Kristell Le Mapihan, Marie-Anne Couturier, Eva De Berranger, Eric Hermet, Natacha Maillard, Ambroise Marcais, Sylvie Francois, Reza Tabrizi and Ibrahim Yakoub-Agha
    Citation: Orphanet Journal of Rare Diseases 2014 9:162
    Content type: Review Published on:
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  • ISSN: 1750-1172 (electronic)

Orphanet Journal of Rare Diseases

ISSN: 1750-1172