Collagen fibrils of osteroid in osteogenesis imperfecta : morphometrical analysis of the fibril diameterSTÖSS, H; FREISINGER, P.American journal of medical genetics. 1993, Vol 45, Num 2, issn 0148-7299, p. 257Conference Paper

Severe rhizomelic skeletal dysplasia in a museum skeletonNERLICH, A. G; FREISINGER, P.Skeletal radiology. 1998, Vol 27, Num 1, pp 46-49, issn 0364-2348Conference Paper

Radiological and histological variants of thanatophoric dysplasia are associated with common mutations in FGFR-3NERLICH, A. G; FREISINGER, P; BONAVENTURE, J et al.American journal of medical genetics. 1996, Vol 63, Num 1, pp 155-160, issn 0148-7299Article

DysspondylochondromatosisFREISINGER, P; FINIDORI, G; MAROTEAUX, P et al.American journal of medical genetics. 1993, Vol 45, Num 4, pp 460-464, issn 0148-7299Article

An atypical form of mucolipidosis IIIFREISINGER, P; PADOVANI, J. C; MAROTEAUX, P et al.Journal of medical genetics. 1992, Vol 29, Num 11, pp 834-836, issn 0022-2593Article

Pachydysostosis of the fibulaMAROTEAUX, P; FREISINGER, P; LE MERRER, M et al.Journal of bone and joint surgery. British volume. 1991, Vol 73, Num 5, pp 842-845, issn 0301-620XArticle

Dominant carpotarsal osteochondromatosisMAROTEAUX, P; LE MERRER, M; BENSAHEL, H et al.Journal of medical genetics. 1993, Vol 30, Num 8, pp 704-706, issn 0022-2593Article

The eye-of-the-tiger sign is not a reliable disease marker for hallervorden-spatz syndromeBAUMEISTER, F. A. M; AUER, D. P; HÖRTNAGEL, K et al.Neuropediatrics. 2005, Vol 36, Num 3, pp 221-222, issn 0174-304X, 2 p.Article

Homozygosity (E140K) in SC02 causes delayed infantile onset of cardiomyopathy and neuropathyJAKSCH, M; HORVATH, R; KALMANCHEY, R et al.Neurology. 2001, Vol 57, Num 8, pp 1440-1446, issn 0028-3878Article

Clinical and ultrastructural findings in three patients with geleophysic dysplasiaPONTZ, B. F; STÖSS, H; HENSCHKE, F et al.American journal of medical genetics. 1996, Vol 63, Num 1, pp 50-54, issn 0148-7299Article

Leigh Disease with Brainstem Involvement in Complex I Deficiency due to Assembly Factor NDUFAF2 DefectHERZER, M; KOCH, J; MAYR, J. A et al.Neuropediatrics. 2010, Vol 41, Num 1, pp 30-34, issn 0174-304X, 5 p.Article

Carbohydrate-deficient glycoprotein syndrome type 2ENGELHARDT, H; STAUDT, M; HÄSSLER, A et al.Journal of inherited metabolic disease. 1999, Vol 22, Num 2, pp 192-193, issn 0141-8955Article

Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiencyTIRANTI, V; JAKSCH, M; UZIEL, G et al.Annals of neurology. 1999, Vol 46, Num 2, pp 161-166, issn 0364-5134Article

Identification of a novel compound heterozygote SCO2 mutation in cytochrome c oxidase deficient fatal infantile cardioencephalomyopathyKNUF, M; FABER, J; HUTH, R. G et al.Acta paediatrica (Oslo). 2007, Vol 96, Num 1, pp 130-132, issn 0803-5253, 3 p.Article

Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolismHORVATH, R; FREISINGER, P; HORN, N et al.Journal of inherited metabolic disease. 2005, Vol 28, Num 4, pp 479-492, issn 0141-8955, 14 p.Article

Type II collagenopathies : Are there additional family members ?FREISINGER, P; BONAVENTURE, J; STOESS, H et al.American journal of medical genetics. 1996, Vol 63, Num 1, pp 137-143, issn 0148-7299Article

Reexpression of cartilage-specific genes by dedifferentiated human articular chondrocytes cultured in alginate beadsBONAVENTURE, J; KADHOM, N; COHEN-SOLAL, L et al.Experimental cell research. 1994, Vol 212, Num 1, pp 97-104, issn 0014-4827Article

Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: Is there a potential effect of copper?FREISINGER, P; HORVATH, R; MACMILLAN, C et al.Journal of inherited metabolic disease. 2004, Vol 27, Num 1, pp 67-79, issn 0141-8955, 13 p.Article

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosisRUIZ-PEREZ, V. L; IDE, S. E; MARINO, B et al.Nature genetics. 2000, Vol 24, Num 3, pp 283-286, issn 1061-4036Article

Symptomatic ornithine carbamoyltransferase deficiency (point mutation H202P) with normal in vitro activitySTAUDT, M; WERMUTH, B; FREISINGER, P et al.Journal of inherited metabolic disease. 1998, Vol 21, Num 1, pp 71-72, issn 0141-8955Article

Achondrogenesis type IB (Fraccaro) : a study of collagen in the tissue and in chondrocytes cultured in agaroseFREISINGER, P; STANESCU, V; JACOB, B et al.American journal of medical genetics. 1994, Vol 49, Num 4, pp 439-446, issn 0148-7299Article

Mutation in the COL2A1 gene in a patient with hypochondrogenesis : expression of mutated COL2A1 gene is accompanied by expression of genes for type 1 procollagen in chondrocytesFREISINGER, P; ALA-KOKKO, L; LEGUELLEC, D et al.The Journal of biological chemistry (Print). 1994, Vol 269, Num 18, pp 13663-13669, issn 0021-9258Article