Results 151 to 160 of about 8,590 (232)

Identification of Ser71Arg mutation in RAB32 gene in familial Parkinson's disease from Southern Italy. [PDF]

NPJ Parkinsons Dis
Gagliardi M, Procopio R, Annesi G, Buonocore J, Talarico M, Quattrone A, Quattrone A.   +6 more
europepmc   +1 more source

RECOMBINATION IN PHAGE: ITS RELATIONSHIP TO HETEROZYGOSIS AND GROWTH

Cold Spring Harbor Symposia on Quantitative Biology, 1953
openaire   +2 more sources

Editorial: Exploring gut neuroimmunology: focus on the enteric nervous system in health and disease. [PDF]

Front Neurosci
Otero-Losada M, Bhave S, Dora D.
europepmc   +1 more source

GNE myopathy with premature ovarian failure: Case report and review of the literature. [PDF]

Mol Genet Metab Rep
Yang S, Yang J.
europepmc   +1 more source

Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus. [PDF]

Genes (Basel), 2023
González-Atienza C, Sánchez-Cazorla E, Villoldo-Fernández N, Del Hierro A, Boto A, Guerrero-Carretero M, Nieves-Moreno M, Arruti N, Rodríguez-Solana P, Mena R, Rodríguez-Jiménez C, Rosa-Pérez I, Acal JC, Blasco J, Naranjo-Castresana M, Ruz-Caracuel B, Montaño VEF, Ortega Patrón C, Rubio-Martín ME, García-Fernández L, Rikeros-Orozco E, Gómez-Cano MLÁ, Delgado-Mora L, Noval S, Vallespín E.   +24 more
europepmc   +1 more source

Preliminary investigation into the genetic etiology of short stature in children through whole exon sequencing of the core family. [PDF]

Open Life Sci
He J, Zhang S, Kang Y, Zhang Y, Zheng Z, Ruan M.   +5 more
europepmc   +1 more source

A novel NKX2-1 frameshift variant expanding the genetic landscape of benign hereditary chorea. [PDF]

Neurol Sci
Aloisio S, De Riggi M, Martini A, Grandolfo S, Birreci D, Angelini L, Cinicola BL, Spalice A, Bologna M.   +8 more
europepmc   +1 more source

A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation

Neuromuscular Disorders, 2013
M. Neri, R. Selvatici, C. Scotton, C. Trabanelli, A. Armaroli, D. Grandis, N. Lévy, F. Gualandi, A. Ferlini   +8 more
semanticscholar   +1 more source

New polymorphisms of Vkork1 gene related to anticoagulant resistance of rats and mice in Italy. [PDF]

Pest Manag Sci
Reggiani A, Rugna G, Polverini E, Veronesi R, Bellini R, Venturelli C, Dini FM, Galuppi R, Pampiglione G, Dottori M, Carra E.   +10 more
europepmc   +1 more source

Left ventricular hypertrabeculation is a novel predictor of life-threatening arrhythmic events in long QT syndrome patients. [PDF]

Orphanet J Rare Dis
Yang J, Li K, Liu F, Kong L, Liu Y, She F, He R, Lv T, Liu F, Zhang P.   +9 more
europepmc   +1 more source