Results 211 to 220 of about 247,095 (344)

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases. [PDF]

Genet Med Open
Torella A, Morleo M, Spampanato C, Castello R, Zanobio M, Piluso G, Di Letto P, Onore ME, Rahman SI, Musacchia F, Pinelli M, Vitiello G, De Riso G, Selicorni A, Mariani M, Daolio C, Capra V, Scala M, Nardecchia F, Galosi S, Mastrangelo M, Manti F, Milani D, Romano C, Greco D, Ciaccio C, D'Arrigo S, De Laurentiis A, Coppola A, Zollino M, Pasquetti D, L'Erario FF, Tummolo A, Santoro C, Garavelli L, Marini C, Bigoni S, Tirozzi A, Cetrangolo V, Parenti G, Di Bernardo D, Peron A, Maitz S, Accogli A, Cappuccio G, Banfi S, Casari G, Ballabio A, Brunetti-Pierri N, Nigro V, Telethon Undiagnosed Disease Study group.   +50 more
europepmc   +1 more source

Games as Information Literacy Tools: An Odyssey

, 2011
Jones, Linda
core   +1 more source

Enhancing the Evidence for Care in Underserved Bleeding Disorders Communities

Haemophilia, EarlyView.
ABSTRACT Background Major advances in haemophilia care have not translated equitably across all populations. Individuals with rare bleeding disorders (RBDs), people living in low‐ and lower‐middle‐income countries (LMICs) and women and girls with inherited bleeding disorders (WGWBD) continue to face significant diagnostic, therapeutic and research ...
Johnny Mahlangu
wiley   +1 more source

Urinary Ascites Secondary to Recurrent Spontaneous Bladder Rupture Mimicking Renal Failure: A Diagnostic Odyssey in a Post-Radiation Patient. [PDF]

Eur J Case Rep Intern Med
Schreiber B, Hosek N, Burgener S.
europepmc   +1 more source

The Illness Narratives of Children and Young People With Spinal Muscular Atrophy: A Scoping Review

Journal of Advanced Nursing, EarlyView.
ABSTRACT Aim(s) This review seeks to explore the illness narratives of children and young people focusing on their healthcare trajectories; the right to health; and the kind of stories told about them. Design This scoping review adopts a narrative approach to analyse how the illness experience of Spinal Muscular Atrophy is represented in the literature,
Marcela González‐Agüero, Constanza Quezada, Valentina Turén, Josefa Camelio, Martina De Filippi, Caroline Bradbury‐Jones, Julie Taylor   +6 more
wiley   +1 more source

Homozygous FDXR variant in twin sisters with spastic paraparesis followed by acute progressive flaccid quadriparesis. [PDF]

BMC Neurol
Tafakhori A, Sarvestani Z, Kariminejad A, Tajsharghi H, Seo GH, Ryu SW, Heydari Havadaragh S.   +6 more
europepmc   +1 more source

Incidence of P200 pemphigoid: A nationwide study

Journal of the European Academy of Dermatology and Venereology, EarlyView.
The anti‐LAMB4 cell‐based immunoassay is a new serological technique that is far superior to dermal immunoblotting for detecting autoantibodies directed against the P200 protein. This method allows a re‐evaluation of the incidence of P200 pemphigoid, which appears to be considerably more frequent than epidermolysis bullosa acquisita.
Fabienne Jouen, Marion Carrette, Marie‐Laure Golinski, Maud Maho‐Vaillant, Alexis Lefebvre, André Gillibert, Pascal Joly, Vivien Hébert   +7 more
wiley   +1 more source

Exploring the Intersection of Rare Diseases and Mental Health Within the Diagnostic Odyssey: A Narrative Review and Thematic Synthesis. [PDF]

Nurs Open
Wu E, Isobel S, Beckett P.
europepmc   +1 more source

Erythrocyte ‘Feierzeit’ reaction: Novel filamentous and vesicular response to n‐butyl acetate

Journal of Microscopy, EarlyView.
Abstract Human erythrocytes (red blood cells; RBCs) undergo spontaneous disassembly after several hours of exposure to n‐butyl acetate (nBA). Images of the morphological changes were captured in time‐lapse sequences using differential interference contrast (DIC) light microscopy.
Philip W. Kuchel
wiley   +1 more source

Tandem RNA and Protein Extraction: A Platform for Maximizing the Use of Limited Ex Vivo Tissue Samples. [PDF]

Bio Protoc
Kennedy C, Millar B, Conroy LJ, Marai M, Barry M, O'Donohoe M, Belton O, Brennan E, Godson C, de Gaetano M.   +9 more
europepmc   +1 more source