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A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disordersCOLOMBANI, Marina; LAURENT, Nicole; FAIVRE, Laurence et al.Prenatal diagnosis. 2006, Vol 26, Num 12, pp 1151-1155, issn 0197-3851, 5 p.Article

Longterm follow-up in chondrodysplasia punctata, tibia-metacarpal type, demonstrating natural historySAVARIRAYAN, Ravi; BOYLE, Robert J; MASEL, John et al.American journal of medical genetics. 2004, Vol 124A, Num 2, pp 148-157, issn 0148-7299, 10 p.Article

Audiological outcomes after cochlear implantation in a patient with Melnick-Needles syndromeVERMEIREN, Annelies; ZAROWSKI, Andrzej; FRYNS, Jean-Pierre et al.Acta oto-laryngologica. 2008, Vol 128, Num 7, pp 814-820, issn 0001-6489, 7 p.Article

International nosology and Classification of Constitutional Disorders of Bone (2001)HALL, Christine M.American journal of medical genetics. 2002, Vol 113, Num 1, pp 65-77, issn 0148-7299, 13 p.Article

Coxa Vara in Chondrodysplasia : Prognosis Study of 35 Hips in 19 ChildrenTRIGUI, Moez; PANNIER, Stéphanie; FINIDORI, Georges et al.Journal of pediatric orthopedics. 2008, Vol 28, Num 6, pp 599-606, issn 0271-6798, 8 p.Article

Marshall-Smith syndrome : Natural history and evidence of an osteochondrodysplasia with connective tissue abnormalitiesADAM, Margaret P; HENNEKAM, Raoul C. M; KEPPEN, Laura Davis et al.American journal of medical genetics. 2005, Vol 137A, Num 2, pp 117-124, issn 0148-7299, 8 p.Article

Spondyloepiphyseal dysplasia omani type: A new recessive type of SED with progressive spinal involvementRAJAB, A; KUNZE, J; MUNDLOS, Stefan et al.American journal of medical genetics. 2004, Vol 126A, Num 4, pp 413-419, issn 0148-7299, 7 p.Article

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Acro-mesomelic dysplasia ― a new type: report of two siblingsBRAHIMI, L; BACHA, L; KOZLOWSKI, K et al.Pediatric radiology. 1988, Vol 18, Num 1, pp 67-69, issn 0301-0449Article

Osteopetrosis: some unusual radiological features with a short reviewKOLAWOLE, T. M; HAWASS, N. D; PATEL, P. J et al.European journal of radiology. 1988, Vol 8, Num 2, pp 89-95, issn 0720-048XArticle

Ossifizierender Weichteiltumor bei Melorheostose = Ostification des tumeurs des parties molles dans la mélorhéostose = Ostifying saft tissue tumours in melorheostosisHALLER, V. J; WITTICH, G. R; SOMMER, G et al.RöFo. Fortschritte auf dem Gebiete der Röntgenstrahlen und der Nuklearmedizin. 1987, Vol 146, Num 3, pp 358-360, issn 0340-1618Article

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Osteogenesis imperfecta: phenotypic heterogeneity, protein suicide, short and long collagenPROCKOP, D. J.American journal of human genetics. 1984, Vol 36, Num 3, pp 499-505, issn 0002-9297Article

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«Les nodules spongieux» du squelette d'ostéopoecilie ― une sécurité radiologique: à propos d'un cas familial = «Cancellus nodules» at the skeleton-osteopoikilosis: a radiological curiosity. Report of a familial caseCOILLARD, C; BARDY, A; PAPOT, G et al.Annales de radiologie (Paris). 1988, Vol 31, Num 4, pp 258-260, issn 0003-4185Article