Guidelines for the genetic diagnosis of hereditary recurrent fevers
Shinar, Y, Obici, L, Aksentijevich, I, Bennetts, B, Austrup, F, Ceccherini, I, Costa, J M, De Leener, A, Gattorno, M, Kania, U, Kone-Paut, I, Lezer, S, Livneh, A, Moix, I, Nishikomori, R, Ozen, S, Phylactou, L, Risom, L, Rowczenio, D, Sarkisian, T, van Gijn, M E, Witsch-Baumgartner, M, Morris, M, Hoffman, H M, Touitou, I
Published in Annals of the Rheumatic Diseases (01.10.2012)
Published in Annals of the Rheumatic Diseases (01.10.2012)
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Journal Article
Book Review
De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features
Makrythanasis, P, Moix, I, Gimelli, S, Fluss, J, Aliferis, K, Antonarakis, SE, Morris, MA, Béna, F, Bottani, A
Published in Clinical genetics (01.08.2010)
Published in Clinical genetics (01.08.2010)
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Journal Article
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
Kollios, Konstantinos, Tsolaki, Anastasia, Antachopoulos, Charalampos, Moix, I., Morris, Michael A., Papadopoulou, Maria, Roilides, Emmanuel
Published in Journal of Pediatric Endocrinology and Metabolism (01.08.2011)
Published in Journal of Pediatric Endocrinology and Metabolism (01.08.2011)
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Journal Article
Molecular analysis of F8 in Lebanese haemophilia A patients: novel mutations and phenotype-genotype correlation
DJAMBAS KHAYAT, C., SALEM, N., CHOUERY, E., CORBANI, S., MOIX, I., NICOLAS, E., MORRIS, M.A., DE MOERLOOSE, P., MÉGARBANÉ, A.
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.07.2008)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.07.2008)
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Journal Article
Phenotypic heterogeneity of dopa-responsive dystonia in monozygotic twins
Grötzsch, H, Schnorf, H, Morris, M A, Moix, I, Horvath, J, Prilipko, O, Burkhard, P R
Published in Neurology (24.02.2004)
Published in Neurology (24.02.2004)
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Journal Article
PW03-005 - NLRP3-Q705K monocytes do not produce more IL-1B
Simon, G, Busso, N, von Scheven-Gete, A, Moix, I, Morris, M, So, A, Hofer, M
Published in Pediatric rheumatology online journal (08.11.2013)
Published in Pediatric rheumatology online journal (08.11.2013)
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Journal Article
P03-002 - Different phenotypes associated with Q703K variant
von Scheven-Gête, A, Moix, I, Simon, G, Busso, N, Morris, M, Hofer, M
Published in Pediatric rheumatology online journal (08.11.2013)
Published in Pediatric rheumatology online journal (08.11.2013)
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Journal Article
A case of (X;15) translocation diagnosed as a paracentric inversion of Xp: diagnostic revision with FISH
Paoloni-Giacobino, A, Lespinasse, J, Moix, I, Dahoun, S.P
Published in Annales de génétique (01.07.2001)
Published in Annales de génétique (01.07.2001)
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