Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page

The following new article has just been published in Orphanet Journal of Rare Diseases

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1. LETTER TO THE EDITOR

   Copy number variants and rasopathies: germline KRASduplication in a patient with syndrome including pigmentation abnormalities

   Brigitte Gilbert-Dussardier, Audrey Briand-Suleau, Ingrid Laurendeau, Frédéric Bilan, Hélène Cavé, Alain Verloes, Michel Vidaud, Dominique Vidaud and Eric Pasmant

   Published on: 22 July 2016
2. RESEARCH

   Brain morphometry in Pontocerebellar Hypoplasia type 2

   Kaspar Ekert, Samuel Groeschel, Iciar Sánchez-Albisua, Saskia Frölich, Andrea Dieckmann, Corinna Engel and Ingeborg Krägeloh-Mann

   Published on: 19 July 2016
3. RESEARCH

   Analysis of voice quality in patients with late-onset Pompe disease

   Krzysztof Szklanny, Ryszard Gubrynowicz, Katarzyna Iwanicka-Pronicka and Anna Tylki-Szymańska

   Published on: 15 July 2016
4. RESEARCH

   Health survey of adults with hereditary spastic paraparesis compared to population study controls

   Krister W. Fjermestad, Øivind J. Kanavin, Eva E. Næss, Lise B. Hoxmark and Grete Hummelvoll

   Published on: 13 July 2016
5. RESEARCH

   Mucopolysaccharidosis I; Parental beliefs about the impact of disease on the quality of life of their children

   A. Soni-Jaiswal, J. Mercer, S. A. Jones, I. A. Bruce and P. Callery

   Published on: 12 July 2016

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