Results 121 to 130 of about 848 (174)

Creating an atlas of variant effects to resolve variants of uncertain significance and guide cardiovascular medicine. [PDF]

Nat Rev Cardiol
Glazer AM, Tabet DR, Parikh VN, Kroncke BM, Cote AG, Yamamoto Y, Wang Q, Muhammad A, Lancaster MC, O'Neill MJ, Weile J, Yang T, Macrae CA, Ashley EA, Roth FP, Roden DM.   +15 more
europepmc   +1 more source

Overcoming extrapolation challenges of deep learning by incorporating physics in protein sequence-function modeling. [PDF]

PLoS Comput Biol
Barethiya S, Huang J, Stumpf C, Liu X, Guan H, Chen J.   +5 more
europepmc   +1 more source

Visual Reliance in Severe Hearing Loss: Visual Evoked Potentials (VEPs) Study. [PDF]

Audiol Res
Gabr T, Hashem A, Ahmed SR, Zeinhom MG.
europepmc   +1 more source

Intraocular Micro-LED Epiretinal Projection for Anterior Segment Blindness: Design and Large-Animal Feasibility Study. [PDF]

Bioengineering (Basel)
Zhang B, Yang J, Jiang H, Gui Z, Xu S.
europepmc   +1 more source

Disease-Modifying Treatment Options in Very Early Onset Multiple Sclerosis-What Choices Are There for Onset Under 5 Years of Age? A Systematic Review. [PDF]

J Clin Med
Craiu D, Dica AD, Pomeran C, Pescaru G, Menascu S, Simu M.   +5 more
europepmc   +1 more source

Understanding the heterogeneous performance of variant effect predictors across human protein-coding genes. [PDF]

Sci Rep
Fawzy M, Marsh JA.
europepmc   +2 more sources

A Case Report of Reversible Mitochondrial Bioenergetic Dysfunction in PBMCs in Anti-GAD65-Associated Cerebellar Ataxia. [PDF]

Cerebellum
Huňarová N, Verešpejová AI, Grófik M, Sivák Š, Kurča E, Kolísek M, Skáčik P.   +6 more
europepmc   +1 more source

Deep learning tools predict variants in disordered regions with lower sensitivity. [PDF]

BMC Genomics
Luppino F, Lenz S, Chow CFW, Toth-Petroczy A.   +3 more
europepmc   +1 more source

The Finnic Peoples of Russia: Genetic Structure Inferred from Genome-Wide and Y-Chromosome Data. [PDF]

Genes (Basel)
Agdzhoyan A, Ponomarev G, Pylev V, Autleva Kagazezheva Z, Gorin I, Evsyukov I, Pocheshkhova E, Koshel S, Kuleshov V, Adamov D, Kuznetsova N.   +10 more
europepmc   +1 more source

Visual Cortical Processing in Children with Early Bilateral Cochlear Implants: A VEP Analysis. [PDF]

Children (Basel)
Badarni-Zahalka O, Dakwar-Kawar O, Adelman C, Khoury-Shoufani S, Attias J.   +4 more
europepmc   +1 more source