Results 101 to 110 of about 7,069 (164)

Congenital nephrotic syndrome [PDF]

, 2007
Hannu Jalanko, R Habib, C Holmberg, H Jalanko, P Niaudet, K Tryggvason, V Ruotsalainen, GM Barletta, A Pätari-Sampo, T Benzing, M Kestilä, A Koziell, OJ Beltcheva, M Gigante, J Patrakka, N Boute, G Caridi, B Hinkes, Y Nishibori, M Schultheiss, MJ Coppes, C Mrowka, V Schumacher, C Jeanpierre, M Zenker, K Hasselbacher, WH Galloway, A Goldenberg, E Bongers, M Knaap van der, D Hata, B Hinkes, P Vachvanishsanong, N Besbas, H Debiec, J Patrakka, C Licht, L Kovacevic, O Salvatierra, A-M Kuusniemi, E Qvist, M Benfield   +41 more
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Molecular Insights into Central Core Disease: Proteomic Signatures and Potential Therapeutic Biomarkers in RYR1 I4895T Mice. [PDF]

Int J Mol Sci
Vantaggiato L, Shaba E, Fiore F, Rossi D, Sorrentino V, Bini L, Landi C.   +6 more
europepmc   +1 more source

Germline mutations in are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome [PDF]

core   +1 more source

Myosinopathies: pathology and mechanisms [PDF]

core   +1 more source

Mending the Achilles heels of titin in cardiac and musculoskeletal disease. [PDF]

Biophys Rev
Martinez-Martin I, Silva-Rojas R, Alegre-Cebollada J.   +2 more
europepmc   +1 more source

Landscape Analysis of <i>COL6A1</i>, <i>COL6A2</i>, and <i>COL6A3</i> Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report. [PDF]

Biomolecules
Fortunato F, Fiocco L, Margutti A, Neri M, D'Amico A, Bertini E, Ricci E, Mercuri EM, Pane M, Massa R, Greco G, Berardinelli AL, Cereda C, Pini A, Merlini L, Fusco C, Rodolico C, Messina S, Fiorillo C, Bruno C, Pedemonte M, Traverso M, Moroni I, Maggi L, Gibertini S, Pegoraro E, Picillo E, Politano L, Scutifero M, Vercellino F, Massaro F, Filosto M, Gasparini P, Ricci F, Mongini TE, Selvatici R, Ferlini A, Gualandi F.   +37 more
europepmc   +1 more source

Novel Mutations in Titin Exon 363 With Different Phenotypes Including a Founder Mutation in Eastern Europe. [PDF]

Eur J Neurol
Sian V, Di Feo MF, Kurbatov S, Vihola A, Luque H, Konovalov F, Peric S, Duffy C, Kornblum C, Claeys KG, Hackman P, Udd B, Savarese M.   +12 more
europepmc   +1 more source

Nerve conduction velocity in patients under longterm treatment with antiepileptic drugs [PDF]

, 1990
Berlit, Peter, Krause, Klaus-Henning
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