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Molecular Genetics and Metabolism|March 25, 2009
Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA geneLivia Pisciotta, Raffaele Fresa, Antonella Bellocchio, et al.Molecular Cytogenetics|March 17, 2015
Clinico-radiological and molecular characterization of a child with ring chromosome 2 presenting growth failure, microcephaly, kidney and brain malformationsMariasavina Severino, Andrea Accogli, Giorgio Gimelli, et al.Genes|August 27, 2021
Fibrodysplasia Ossificans Progressiva: A Challenging DiagnosisDaniele De Brasi, Francesca Orlando, Valeria Gaeta, et al.Journal of Inherited Metabolic Disease|May 8, 2012
Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian studyAnnalisa Sechi, Laura Deroma, Annunziata Lapolla, et al.Intractable & Rare Diseases Research|May 17, 2021
New insights on fibrodysplasia ossificans progressiva: discussion of an autoptic case report and brief literature reviewVittorio Bolcato, Claudia Carelli, Silvia Damiana Visonà, et al.Orphanet Journal of Rare Diseases|December 21, 2023
Multicentric Carpo-Tarsal Osteolysis Syndrome (MCTO) and "Function Profile": a rehabilitative approachAnna Bruna Ronchetti, Marina Usai, Valentina Savino, et al.Human Mutation|April 3, 2007
Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. OnlineAnthony Olind Fedele, Mirella Filocamo, Maja Di Rocco, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 4, 2018
ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset casesMichela Stagnaro, Livia Pisciotta, Marcella Gherzi, et al.Neuropediatrics|February 17, 2015
Inferior olivary nucleus involvement in pediatric neurodegenerative disorders: does it play a role in neuroimaging pattern-recognition approach?Marisol Mirabelli-Badenier, Giovanni Morana, Claudio Bruno, et al.Journal of Inherited Metabolic Disease|March 1, 2019
Allogeneic hematopoietic cell transplantation in Farber diseaseKaroline Ehlert, Thierry Levade, Maja Di Rocco, et al.Pageof 14