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Material Type: Artigo
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Phalangeal cone-shaped epiphyses of the hand: their natural history, diagnostic sensitivity, and specificity in cartilage hair hypoplasia and the trichorhinophalangeal syndromes I and IIGiedion, APediatric radiology, 1998-10, Vol.28 (10), p.751-758 [Periódico revisado por pares]Germany: Springer Nature B.VTexto completo disponível |
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Material Type: Artigo
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Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: Clinical and radiographic delineation of a pleiotropic disorderRenella, Raffaele ; Schaefer, Elke ; LeMerrer, Martine ; Alanay, Yasemin ; Kandemir, Nurgun ; Eich, Georg ; Costa, Teresa ; Ballhausen, Diana ; Boltshauser, Eugen ; Bonafé, Luisa ; Giedion, Andres ; Unger, Sheila ; Superti-Furga, AndreaAmerican journal of medical genetics. Part A, 2006-03, Vol.140A (6), p.541-550 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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Acrodysostosis and craniofacial conodysplasia are two separate bone dysplasiasGiedion, AndresPediatric radiology, 2002-03, Vol.32 (3), p.214-214 [Periódico revisado por pares]GermanyTexto completo disponível |
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Material Type: Artigo
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A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutationsJakkula, E ; Lohiniva, J ; Capone, A ; Bonafe, L ; Marti, M ; Schuster, V ; Giedion, A ; Eich, G ; Boltshauser, E ; Ala-Kokko, L ; Superti-Furga, AJournal of medical genetics, 2003-12, Vol.40 (12), p.942-948 [Periódico revisado por pares]England: BMJ Publishing Group LtdTexto completo disponível |
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Material Type: Artigo
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Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hipsMortier, G R ; Kramer, P P G ; Giedion, A ; Beemer, F AJournal of medical genetics, 2003-03, Vol.40 (3), p.201-207 [Periódico revisado por pares]England: BMJ Publishing Group LtdTexto completo disponível |
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Material Type: Artigo
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The weight of the fourth dimension for the diagnosis of genetic bone diseaseGIEDION, APediatric radiology, 1994-11, Vol.24 (6), p.387-391 [Periódico revisado por pares]Berlin: SpringerTexto completo disponível |
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Material Type: Artigo
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Differential diagnosis of Stickler syndromeGiedion, ASkeletal radiology, 2001-06, Vol.30 (6), p.357-357 [Periódico revisado por pares]Germany: Springer Nature B.VTexto completo disponível |
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Material Type: Artigo
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A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasiaSUPERTI-FURGA, A ; EICH, G ; BUCHER, H. U ; WISSER, J ; GIEDION, A ; GITZELMANN, R ; STEINMANN, BEuropean journal of pediatrics, 1995-03, Vol.154 (3), p.215-219 [Periódico revisado por pares]Heidelberg: SpringerTexto completo disponível |
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Material Type: Artigo
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Pediatric pelvis: radiographic appearance in various congenital disordersEICH, GF ; BABYN, P ; GIEDION, ARadiographics, 1992-05, Vol.12 (3), p.467-484 [Periódico revisado por pares]EASTON: Radiological Society of North AmericaTexto completo disponível |
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Material Type: Artigo
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Edward Neuhauser memorial lecture. Genetic bone disease: radiologic sight and insightGiedion, AAmerican journal of roentgenology (1976), 1988-10, Vol.151 (4), p.651-657 [Periódico revisado por pares]United StatesTexto completo disponível |