Results 71 to 80 of about 34,751 (136)

ACVR mutation [NM_001105.4:c.774G>T (p.Arg258Ser)] in pediatric fibrodysplasia ossificans progressiva complicated by scoliosis: a case report. [PDF]

Front Pediatr
Yang F, Liu M, Pei S, Huang J, Wang H.
europepmc   +1 more source

An integrated graph neural network model for joint software defect prediction and code quality assessment. [PDF]

Sci Rep
Dai P, Zhu H, Wu J, He H.
europepmc   +1 more source

Pedigree Painter (pepa): a tool for the visualization of genetic inheritance in chromosomal context. [PDF]

Bioinformatics
Pozzi A.
europepmc   +1 more source

Computational Evidence for Digenic Contribution of <i>AIPL1</i> and <i>BBS2</i> Rare Variants in Inherited Retinal Dystrophy. [PDF]

Int J Mol Sci
Alibrandi S, Scimone C, Abate G, Scalinci SZ, Sidoti A, Donato L.   +5 more
europepmc   +1 more source

SmellyCode++: Multi-Label Dataset for Code Smell Detection. [PDF]

Sci Data
Alomari N, Alazba A, Aljamaan H, Alshayeb M.   +3 more
europepmc   +1 more source

Sparse polygenic risk score inference with the spike-and-slab LASSO. [PDF]

Bioinformatics
Song J, Zabad S, Yang A, Gravel S, Li Y.
europepmc   +1 more source

A practical framework for predicting splicing single nucleotide variants in exome sequencing. [PDF]

NAR Genom Bioinform
Utsuno Y, Hamanaka K, Sakamoto M, Tsuchida N, Uchiyama Y, Koshimizu E, Fujita A, Miyatake S, Mizuguchi T, Matsumoto N.   +9 more
europepmc   +1 more source

Systematic evaluation of de novo mutation calling tools using whole genome sequencing data. [PDF]

Brief Bioinform
Shah A, Monger S, Troup M, Ip EKK, Giannoulatou E.   +4 more
europepmc   +1 more source

Compound inheritance of EHHADH and MASP1 mutations contributes to nonsyndromic cleft lip: familial analysis and zebrafish models. [PDF]

Biol Open
Swatowska P, Odrzywolski A, Kuźniarz K, Tylzanowski P.   +3 more
europepmc   +1 more source

3D point cloud lithology identification based on stratigraphically constrained continuous clustering. [PDF]

Sci Rep
Gan B, Jing R, Shao Y, Liu Y, Duan X, Li P, Li L.   +6 more
europepmc   +1 more source