Results 121 to 130 of about 85,620 (210)

Improving ALS Molecular Diagnosis Through Functional Assays: Reassessment of a <i>SOD1</i> Variant of Uncertain Significance. [PDF]

Int J Mol Sci
Bedja-Iacona L, Forget A, Boisseau C, Marouillat S, Chudinova A, Veyrat-Durebex C, Guissart C, Lumbroso S, Raoul C, Andres CR, Blasco H, Couratier P, Corcia P, Verschueren A, Mouzat K, Vourc'h P.   +15 more
europepmc   +1 more source

Methodology of DNA extraction and sequencing from living cardiomyocytes collected by catheter in humans. [PDF]

Genet Med Open
Ader F, Guilbeau-Frugier C, Lhuillier E, Martins F, Gonzalez AA, Rollin A, Beneyto M, Gales C, Pires F, Maoret JJ, Sénard JM, Timnou-Bekouti J, Villard E, Duboscq-Bidot L, Gandjbakhch E, Maury P.   +15 more
europepmc   +1 more source

Natural history of adult-onset metachromatic leukodystrophy. [PDF]

J Neurol
Mandia D, Dufour J, Fenu S, Salsano E, Benzoni C, Sellal F, Pariente J, Cengiz N, Pettazzoni M, Levade T, Lamari F, Caillaud C, La Piana R, Brassat D, Durand-Dubief F, Besson G, Odent S, Devos D, Barbay M, Makrygianni M, Kumperscak HG, Froissart R, Nadjar Y.   +22 more
europepmc   +1 more source

Eukan: a fully automated nuclear genome annotation pipeline for less studied and divergent eukaryotes. [PDF]

NAR Genom Bioinform
Sarrasin M, Burger G, Lang BF.
europepmc   +1 more source

Erratum to "Discordant Results Between Creatinine- and Cystatin C-based Equations for Estimating GFR" [<i>Kidney International Reports</i> Volume 10, Issue 4, April 2025, Pages 1248-1259]. [PDF]

Kidney Int Rep
Delanaye P, Flamant M, Vidal-Petiot E, Björk J, Nyman U, Grubb A, Bakker SJL, de Borst MH, van Londen M, Derain-Dubourg L, Rule AD, Eriksen BO, Melsom T, Sundin PO, Ebert N, Schaeffner E, Hansson M, Littmann K, Larsson A, Stehlé T, Cavalier E, Bukabau JB, Sumaili EK, Yayo E, Mariat C, Moranne O, Christensson A, Lanot A, Pottel H.   +28 more
europepmc   +1 more source

Full recovery of vision following early and intensive hemodialysis in an 18-year-old woman with methylmalonic acidemia-related optic neuropathy. [PDF]

Mol Genet Metab Rep
Guertin A, Khanna RK, Tardieu M, François M, Blasco H, de Bretagne IB, Benoist JF, Bigot A, Tressel N, Maillot F, Labarthe F.   +10 more
europepmc   +1 more source

Viral etiology of acute respiratory infections in Sub-Saharan Africa during the pre-COVID-19 period (2006-2019): a systematic review and meta-analysis. [PDF]

BMC Infect Dis
Kaboré BWO, Gouba N, Ilboudo AK, Lingani M, Savadogo M, Ouedraogo E, Cissé A, Simonis V, Tarnagda Z.   +8 more
europepmc   +1 more source

Correction: Baghdadi et al. Contribution of Manure-Spreading Operations to Bioaerosols and Antibiotic Resistance Genes' Emission. <i>Microorganisms</i> 2023, <i>11</i>, 1797. [PDF]

Microorganisms
Baghdadi M, Brassard P, Godbout S, Létourneau V, Turgeon N, Rossi F, Lachance É, Veillette M, Gaucher ML, Duchaine C.   +9 more
europepmc   +1 more source