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	1.	Myoglobinuria in two patients with Duchenne muscular dystrophy after treatment with zoledronate: a case-report and call for caution. [electronic resource] by Ivanyuk, Anton García Segarra, Nuria Buclin, Thierry Klein, Andrea Jacquier, David Newman, Christopher J Bloetzer, Clemens Producer: 20191031 In: Neuromuscular disorders : NMD vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A. [electronic resource] by García Segarra, Nuria Gautschi, Ivan Mittaz-Crettol, Laureane Kallay Zetchi, Christine Al-Qusairi, Lama Van Bemmelen, Miguel Xavier Maeder, Philippe Bonafé, Luisa Schild, Laurent Roulet-Perez, Eliane Producer: 20150406 In: Journal of the neurological sciences vol. 342 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients. [electronic resource] by Bacci, Giacomo M Donati, Maria A Pasquini, Elisabetta Munier, Francis Cavicchi, Catia Morrone, Amelia Sodi, Andrea Murro, Vittoria Garcia Segarra, Nuria Defilippi, Claudio Bussolin, Leonardo Caputo, Roberto Producer: 20180102 In: Acta ophthalmologica vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Long-term liver disease in methylmalonic and propionic acidemias. [electronic resource] by Imbard, Apolline Garcia Segarra, Nuria Tardieu, Marine Broué, Pierre Bouchereau, Juliette Pichard, Samia de Baulny, Hélène Ogier Slama, Abdelhamid Mussini, Charlotte Touati, Guy Danjoux, Marie Gaignard, Pauline Vogel, Hannes Labarthe, François Schiff, Manuel Benoist, Jean-François Producer: 20190708 In: Molecular genetics and metabolism vol. 123 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia. [electronic resource] by Simon, Marleen Campos-Xavier, Ana Belinda Mittaz-Crettol, Lauréane Valadares, Eugenia Ribeiro Carvalho, Daniel Speck-Martins, Carlos Eduardo Nampoothiri, Sheela Alanay, Yasemin Mihci, Ercan van Bever, Yolande Garcia-Segarra, Nuria Cavalcanti, Denise Mortier, Geert 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)
	6.	Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families. [electronic resource] by Sass, Jörn Oliver Gemperle-Britschgi, Corinne Tarailo-Graovac, Maja Patel, Nisha Walter, Melanie Jordanova, Albena Alfadhel, Majid Barić, Ivo Çoker, Mahmut Damli-Huber, Aynur Faqeih, Eissa Ali García Segarra, Nuria Geraghty, Michael T Jåtun, Bjørn Magne Kalkan Uçar, Sema Kriewitz, Merten Rauchenzauner, Markus Bilić, Karmen Tournev, Ivailo Till, Claudia Sayson, Bryan Beumer, Daniel Ye, Cynthia Xin Zhang, Lin-Hua Vallance, Hilary Alkuraya, Fowzan S van Karnebeek, Clara D M Producer: 20171207 In: Molecular genetics and metabolism vol. 119 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals. [electronic resource] by Garcia Segarra, Nuria Mittaz, Laureane Campos-Xavier, Ana Belinda Bartels, Cynthia F Tuysuz, Beyhan Alanay, Yasemin Cimaz, Rolando Cormier-Daire, Valerie Di Rocco, Maja Duba, Hans-Christoph Elcioglu, Nursel H Forzano, Francesca Hospach, Toni Kilic, Esra Kuemmerle-Deschner, Jasmin B Mortier, Geert Mrusek, Sonja Nampoothiri, Sheela Obersztyn, Ewa Pauli, Richard M Selicorni, Angelo Tenconi, Romano Unger, Sheila Utine, G Eda Wright, Michael Zabel, Bernhard Warman, Matthew L Superti-Furga, Andrea Bonafé, Luisa 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)