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	1.	Current Care and Investigational Therapies in Achondroplasia. [electronic resource] by Unger, Sheila Bonafé, Luisa Gouze, Elvire Producer: 20180313 In: Current osteoporosis reports vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Remark on utility and error rates of the allopurinol test in detecting mild ornithine transcarbamylase deficiency. [electronic resource] by Oexle, Konrad Bonafé, Luisa Steinmann, Beat Producer: 20030117 In: Molecular genetics and metabolism vol. 76 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	New topics in the skeletal dysplasias. [electronic resource] by Unger, Sheila Bonafé, Luisa Superti-Furga, Andrea Producer: 20130212 In: American journal of medical genetics. Part C, Seminars in medical genetics vol. 160C Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis. [electronic resource] by Unger, Sheila Bonafé, Luisa Superti-Furga, Andrea Producer: 20080807 In: Best practice & research. Clinical rheumatology vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	The unsolved puzzle of neuropathogenesis in glutaric aciduria type I. [electronic resource] by Jafari, Paris Braissant, Olivier Bonafé, Luisa Ballhausen, Diana Producer: 20120315 In: Molecular genetics and metabolism vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Pulmonary Involvement in Adult Patients with Inborn Errors of Metabolism. [electronic resource] by Tran, Christel Barbey, Frederic Lazor, Romain Bonafé, Luisa Producer: 20180511 In: Respiration; international review of thoracic diseases vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	[Genetics of childhood epilepsies: for who? how? why?]. [electronic resource] by Lebon, Sébastien Campos-Xavier, Belinda Bonafé, Luisa Roulet-Perez, Eliane Producer: 20140331 In: Revue medicale suisse vol. 10 Availability: No items available. Save to lists Add to cart (remove)
	8.	Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome. [electronic resource] by Zankl, Andreas Jaeger, Gudrun Bonafé, Luisa Boltshauser, Eugen Superti-Furga, Andrea Producer: 20050411 In: American journal of medical genetics. Part A vol. 131 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	[New therapies for children affected by bone diseases]. [electronic resource] by Ballhausen, Diana Dépraz, Nuria Garcia Kern, Ilse Unger, Sheila Bonafé, Luisa Producer: 20120403 In: Revue medicale suisse vol. 8 Availability: No items available. Save to lists Add to cart (remove)
	10.	[Array CGH: why and to whom]. [electronic resource] by Ferrarini, Alessandra Jacquemont, Sébastien Popovic, Maja Beck Bonafé, Luisa Martinet, Danielle Producer: 20100504 In: Revue medicale suisse vol. 6 Availability: No items available. Save to lists Add to cart (remove)
	11.	Born at 27 weeks of gestation with classical PKU: challenges of dietetic management in a very preterm infant. [electronic resource] by Ballhausen, Diana Egli, Delphine Bickle-Graz, Myriam Bianchi, Nicoletta Bonafé, Luisa Producer: 20120823 In: Pediatric reports vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Carnitine deficiency in chronic critical illness. [electronic resource] by Bonafé, Luisa Berger, Mette M Que, Yok Ai Mechanick, Jeffrey I Producer: 20140916 In: Current opinion in clinical nutrition and metabolic care vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Ammonium accumulation and cell death in a rat 3D brain cell model of glutaric aciduria type I. [electronic resource] by Jafari, Paris Braissant, Olivier Zavadakova, Petra Henry, Hugues Bonafé, Luisa Ballhausen, Diana Producer: 20130702 In: PloS one vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Brain damage in methylmalonic aciduria: 2-methylcitrate induces cerebral ammonium accumulation and apoptosis in 3D organotypic brain cell cultures. [electronic resource] by Jafari, Paris Braissant, Olivier Zavadakova, Petra Henry, Hugues Bonafé, Luisa Ballhausen, Diana Producer: 20130723 In: Orphanet journal of rare diseases vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Adult classical homocystinuria requiring parenteral nutrition: Pitfalls and management. [electronic resource] by Tran, Christel Bonafé, Luisa Nuoffer, Jean-Marc Rieger, Julie Berger, Mette M Producer: 20191022 In: Clinical nutrition (Edinburgh, Scotland) vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Clinical, radiographic, and genetic diagnosis of progressive pseudorheumatoid dysplasia in a patient with severe polyarthropathy. [electronic resource] by Ehl, Stephan Uhl, Markus Berner, Reinhard Bonafé, Luisa Superti-Furga, Andrea Kirchhoff, Antje Producer: 20040708 In: Rheumatology international vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Glut-1 deficiency syndrome masquerading as idiopathic generalized epilepsy. [electronic resource] by Roulet-Perez, Eliane Ballhausen, Diana Bonafé, Luisa Cronel-Ohayon, Stephanie Maeder-Ingvar, Malin Producer: 20090217 In: Epilepsia vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report. [electronic resource] by Hinrichs, Timo Superti-Furga, Andrea Scheiderer, Wolf-Dieter Bonafé, Luisa Brenner, Rolf E Mattes, Thomas Producer: 20110203 In: BMC musculoskeletal disorders vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene. [electronic resource] by Gok, Faysal Crettol, Lauréane Mittaz Alanay, Yasemin Hacihamdioglu, Bulent Kocaoglu, Murat Bonafe, Luisa Ozen, Seza Producer: 20100423 In: European journal of pediatrics vol. 169 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Recurrent postpartum cerebral sinus vein thrombosis as a presentation of cystathionine-beta-synthase deficiency. [electronic resource] by Novy, Jan Ballhausen, Diana Bonafé, Luisa Cairoli, Anne Angelillo-Scherrer, Anne Bachmann, Claude Michel, Patrik Producer: 20100617 In: Thrombosis and haemostasis vol. 103 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 88 results.