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	1.	Growing bone knowledge. [electronic resource] by Superti-Furga, A Producer: 20050304 In: Clinical genetics vol. 66 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Achondrogenesis type 1B. [electronic resource] by Superti-Furga, A Producer: 19970313 In: Journal of medical genetics vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Otopalatodigital syndrome and frontometaphyseal dysplasia, splitters and lumpers, and paternity of ideas. [electronic resource] by Superti-Furga, A Producer: 20001130 In: American journal of medical genetics vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB. [electronic resource] by Superti-Furga, A Producer: 19941227 In: American journal of human genetics vol. 55 Availability: No items available. Save to lists Add to cart (remove)
	5.	"Cerebral" lactic acidosis and cerebrospinal fluid pH. [electronic resource] by Superti-Furga, A Producer: 19881201 In: European journal of pediatrics vol. 147 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Ehlers-Danlos syndrome type IV: another temperature-dependent skin disorder? [electronic resource] by Superti-Furga, A Steinmann, B Producer: 19891003 In: Journal of the American Academy of Dermatology vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Impaired secretion of type III procollagen in Ehlers-Danlos syndrome type IV fibroblasts: correction of the defect by incubation at reduced temperature and demonstration of subtle alterations in the triple-helical region of the molecule. [electronic resource] by Superti-Furga, A Steinmann, B Producer: 19880220 In: Biochemical and biophysical research communications vol. 150 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. [electronic resource] by Rossi, A Superti-Furga, A Producer: 20010802 In: Human mutation vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): advances and unanswered questions. Report from an international meeting. [electronic resource] by Superti-Furga, A Hoffmann, G F Producer: 19971216 In: European journal of pediatrics vol. 156 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	[Why does knowledge on rare diseases allow progress in treatments?]. [electronic resource] by Argiroffo, Constance Barazzone Superti-Furga, A Producer: 20120403 In: Revue medicale suisse vol. 8 Availability: No items available. Save to lists Add to cart (remove)
	11.	[Does prematurity affect adulthood?]. [electronic resource] by Argiroffo, C Barazzone Superti-Furga, A Producer: 20140404 In: Revue medicale suisse vol. 10 Availability: No items available. Save to lists Add to cart (remove)
	12.	Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency. [electronic resource] by Garibaldi, L Superti-Furga, A Borrone, C Producer: 19861229 In: The Journal of pediatrics vol. 109 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Genetic polymorphisms of chitotriosidase in Caucasian children with bronchial asthma. [electronic resource] by Bierbaum, S Superti-Furga, A Heinzmann, A Producer: 20060810 In: International journal of immunogenetics vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Mechanism of action of FK 506 and cyclosporin. [electronic resource] by Steinmann, B Superti-Furga, A Bruckner, P Producer: 19910308 In: Lancet (London, England) vol. 337 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Osteoporosis-pseudoglioma or osteogenesis imperfecta? [electronic resource] by Superti-Furga, A Steinmann, B Perfumo, F Producer: 19860506 In: Clinical genetics vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Cyclosporin A slows collagen triple-helix formation in vivo: indirect evidence for a physiologic role of peptidyl-prolyl cis-trans-isomerase. [electronic resource] by Steinmann, B Bruckner, P Superti-Furga, A Producer: 19910212 In: The Journal of biological chemistry vol. 266 Availability: No items available. Save to lists Add to cart (remove)
	17.	Type III collagen deficiency. [electronic resource] by Superti-Furga, A Steinmann, B Byers, P H Producer: 19890524 In: Lancet (London, England) vol. 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Deficiencies of fibrillin and decorin in fibroblast cultures of a patient with neonatal Marfan syndrome. [electronic resource] by Superti-Furga, A Raghunath, M Willems, P J Producer: 19930209 In: Journal of medical genetics vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Molecular-pathogenetic classification of genetic disorders of the skeleton. [electronic resource] by Superti-Furga, A Bonafé, L Rimoin, D L Producer: 20020605 In: American journal of medical genetics vol. 106 Availability: No items available. Save to lists Add to cart (remove)
	20.	Congenital dopamine beta-hydroxylase deficiency. [electronic resource] by Superti-Furga, A Royce, P M Steinmann, B Producer: 19870427 In: Lancet (London, England) vol. 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 134 results.