Showing results (561-570 of 4,757) with videos related to

Sort By:
Pageof 476
Orphanet Journal of Rare Diseases|January 18, 2013
Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyriaMichela Barbaro, Maire Kotajärvi, Pauline Harper, et al.
Orphanet Journal of Rare Diseases|January 22, 2013
Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristicsShinsuke Fujioka, Christina Sundal, Zbigniew K Wszolek
Orphanet Journal of Rare Diseases|May 18, 2013
Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletionsAlessandro Ferraris, Laura Bernardini, Vesna Sabolic Avramovska, et al.
Orphanet Journal of Rare Diseases|May 23, 2013
Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndromeFransiska Malfait, Sofie Symoens, Nathalie Goemans, et al.
Orphanet Journal of Rare Diseases|May 10, 2013
Natural history of Barth syndrome: a national cohort study of 22 patientsCharlotte Rigaud, Anne-Sophie Lebre, Renaud Touraine, et al.
Orphanet Journal of Rare Diseases|April 6, 2013
Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfaseMarion M Brands, Marianne Hoogeveen-Westerveld, Marian A Kroos, et al.
Orphanet Journal of Rare Diseases|April 6, 2013
Serum KL-6 is a predictor of outcome in pulmonary alveolar proteinosisFrancesco Bonella, Shinichiro Ohshimo, Cai Miaotian, et al.
Orphanet Journal of Rare Diseases|April 24, 2013
Prioritization of therapy uncertainties in Dystrophic Epidermolysis Bullosa: where should research direct to? an example of priority setting partnership in very rare disordersPaula Davila-Seijo, Angela Hernández-Martín, Evanina Morcillo-Makow, et al.
Orphanet Journal of Rare Diseases|April 17, 2013
Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutationLina Issa, Katrin Mueller, Katja Seufert, et al.
Orphanet Journal of Rare Diseases|April 23, 2013
Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy)Harumasa Nakamura, En Kimura, Madoka Mori-Yoshimura, et al.
Pageof 476