Results 141 to 150 of about 4,949 (187)

Optical genome mapping enables accurate testing of large repeat expansions. [PDF]

Genome Res
van der Sanden B, Neveling K, Shukor S, Gallagher MD, Lee J, Burke SL, Pennings M, van Beek R, Oorsprong M, Kater-Baats E, Kamping E, Tieleman AA, Voermans NC, Scheffer IE, Gecz J, Corbett MA, Vissers LELM, Pang AWC, Hastie A, Kamsteeg EJ, Hoischen A.   +20 more
europepmc   +1 more source

Development of Immunostaining Protocols for 3D Visualization of Pericytes in Human Retinal Flatmounts. [PDF]

J Histochem Cytochem
Bakker N, Croes AA, Prevaes E, van Noorden CJF, Schlingemann RO, Klaassen I.   +5 more
europepmc   +1 more source

Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders. [PDF]

Int J Mol Sci
de Boer EN, Scheper AJ, Hendriksen D, Charbon B, van der Vries G, Ten Berge AM, Grootscholten PM, Lemmink HH, Jongbloed JDH, Bosscher L, Knoers NVAM, Swertz MA, Sikkema-Raddatz B, Dijkstra DJ, Johansson LF, van Diemen CC.   +15 more
europepmc   +1 more source

PAF15-PCNA exhaustion governs the strand-specific control of DNA replication. [PDF]

Nature
Chhetri G, Badugu SB, Petriman NA, Petersen MB, Güller AS, Fajri N, Coulée M, Pitchai GP, Novotný J, Larsen FT, Møller AF, Ebbesen MF, Ravnsborg T, Yadav AK, Balarasa B, Lunding A, Polasek-Sedlackova H, Jensen ON, Ravnskjaer K, Brewer JR, Madsen JGS, Petryk N, Andersen JS, Somyajit K.   +23 more
europepmc   +1 more source

Low-dose methotrexate adverse reaction risk in renal impairment: pharmacovigilance and physiological pharmacokinetic model assessment. [PDF]

Front Pharmacol
Zhang L, Li J, Wang X, Zhang Y, Gao S, Dong D, Zhu Y, Yang S.   +7 more
europepmc   +1 more source

Keyness Analysis: nature, metrics and techniques [PDF]

, 2018
Gabrielatos, Costas
core  

Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome: The First Genetically Confirmed Case in South Korea. [PDF]

J Clin Neurol
Yun SY, Choi SY, Lee JO, Kim HJ, Kim JS.
europepmc   +1 more source

Feasibility of long-read sequencing to identify molecular alterations in an Indonesian cohort of locally advanced to advanced nasopharyngeal cancer. [PDF]

Sci Rep
Handoko, Adham M, Rachmadi L, Tobing DL, Asmarinah, Fadilah, Dai W, Lee AWM, Gondhowiardjo SA.   +8 more
europepmc   +1 more source

Pentanucleotide guanine-rich WGGGW repeats, including CANVAS AGGGA repeats, form a variety of noncanonical structures. [PDF]

Nucleic Acids Res
Wang J, Qiu D, Zhou J, Mergny JL, Alberti P.   +4 more
europepmc   +1 more source

Dynamic mutations of RFC1-related to multiple system atrophy: one case report

Chinese Journal of Contemporary Neurology and Neurosurgery
JIANG Ji-wei, JIANG Shi-rui, LI Wen-yi, ZHAO Min, ZHANG Hui-ying, XU Jun   +5 more
doaj   +1 more source