au.\*:("BURGELIN, Ingrid")
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Detection of an Intragenic Deletion Expands the Spectrum of CTSC Mutations in Papillon-Lefèvre SyndromeJOUARY, Thomas; GOIZET, Cyril; TAIEB, Alain et al.Journal of investigative dermatology. 2008, Vol 128, Num 2, pp 322-325, issn 0022-202X, 4 p.Article
A 580 kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformationROORYCK, Caroline; BURGELIN, Ingrid; STEF, Marianne et al.European journal of medical genetics. 2008, Vol 51, Num 1, pp 74-80, issn 1769-7212, 7 p.Article
A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasiaSIMON, Delphine; LALOO, Benoit; GILBERT-DUSSARDIER, Brigitte et al.Human molecular genetics (Print). 2010, Vol 19, Num 10, pp 2015-2027, issn 0964-6906, 13 p.Article
2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate geneROORYCK, Caroline; STEF, Marianne; BURGELIN, Ingrid et al.European journal of medical genetics. 2009, Vol 52, Num 6, pp 446-449, issn 1769-7212, 4 p.Article
COL4A1 mutation in axenfeld-rieger anomaly with leukoencephalopathy and strokeSIBON, Igor; COUPRY, Isabelle; ORGOGOZO, Jean-Marc et al.Annals of neurology. 2007, Vol 62, Num 2, pp 177-184, issn 0364-5134, 8 p.Article