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Journal of Endocrinological Investigation|April 12, 2017
Validation of the Italian Quality of Life in Short Stature Youth (QoLISSY) questionnaireJ Quitmann, A Giammarco, M Maghnie, et al.Human Molecular Genetics|September 1, 1993
Substitution of Leu for Pro-193 in the insulin receptor in a patient with a genetic form of severe insulin resistanceP Carrera, R Cordera, M Ferrari, et al.Clinical and Experimental Immunology|April 26, 2006
Increased hepatitis C virus (HCV)-specific CD4+CD25+ regulatory T lymphocytes and reduced HCV-specific CD4+ T cell response in HCV-infected patients with normal versus abnormal alanine aminotransferase levelsF Bolacchi, A Sinistro, C Ciaprini, et al.Annals of Neurology|March 11, 1999
Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathyV Carelli, A Ghelli, L Bucchi, et al.Prenatal Diagnosis|July 23, 1999
Molecular prenatal diagnosis of ataxia telangiectasia heterozygosity by direct mutational assaysL Chessa, M Piane, S Prudente, et al.Acta Diabetologica|April 22, 2022
Comparison of two advanced hybrid closed loop in a pediatric population with type 1 diabetes: a real-life observational studyR Schiaffini, A Deodati, M C Nicoletti, et al.American Journal of Human Genetics|May 1, 1997
Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484A Torroni, M Petrozzi, L D'Urbano, et al.Human Genetics|September 1, 1997
The STR252-IVS10nt546-VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samplesF Calì, I Dianzani, L R Desviat, et al.Pageof 4