Results 201 to 210 of about 159,600 (311)

Tezacaftor–Ivacaftor in Residual-Function Heterozygotes with Cystic Fibrosis [PDF]

, 2017
Steven M. Rowe, Cori Daines, Felix C. Ringshausen, Eitan Kerem, John Wilson, Elizabeth Tullis, Nitin Nair, C Simard, Linda K. Han, Edward P. Ingenito, Charlotte McKee, Julie Lekstrom-Himes, Jane C. Davies   +12 more
openalex   +1 more source

ParaMask: a new method to identify multicopy genomic regions, corrects major biases in whole-genome sequencing data. [PDF]

Genome Biol
Tjeng B, Arimond M, Bråten Grindeland H, Dalla Libera A, Fulgione A.   +4 more
europepmc   +1 more source

Estimation of the frequency of isoform–genotype discrepancies at the apolipoprotein E locus in heterozygotes for the isoforms

, 1992
F. Mailly, Patricia P. Moll, B A Kottke, M. Ilyas Kamboh, Steve E. Humphries, R E Ferrell, Aravinda Chakravarti   +6 more
openalex   +2 more sources

A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia [PDF]

, 2008
Atsushi Miyake, Gen Nishimura, Toru Futami, Hirofumi Ohashi, Kazuhiro Chiba, Yoshiaki Toyama, Tatsuya Furuichi, Shiro Ikegawa   +7 more
openalex   +1 more source

Genetic Characterization of the Arabian Horse Population in Tunisia Using Microsatellites. [PDF]

Life (Basel)
Jlassi M, Dhifalli I, Ouled Ahmed H, Lasfar F, El Gtari M, Jemmali B.   +5 more
europepmc   +1 more source

Allele Frequencies at Recessive Disease Genes are Mainly Determined by Pleiotropic Effects in Heterozygotes

Jonathan Judd, Jeffrey P. Spence, Nikhil Milind, Linda Kachuri, John S. Witte, Jonathan K. Pritchard   +5 more
openalex   +1 more source

Major histocompatibility complex (MHC) heterozygote superiority to natural multi-parasite infections in the water vole (Arvicola terrestris)

Proceedings of the Royal Society B: Biological Sciences, 2009
M. Oliver, Sandra Telfer, S. Piertney
semanticscholar   +1 more source

Identification of base substitutions in the promoter regions of the A gamma- and G gamma-globin genes in A gamma- (or G gamma-) beta+-HPFH heterozygotes using the DNA-amplification-synthetic oligonucleotide procedure [PDF]

, 1988
KG Yang, T. A. Stoming, YJ Fei, S. Liang, SC Wong, Bruno Masala, RB Huang, ZP Wei, T. H. J. Huisman   +8 more
openalex   +1 more source

Fishing for novel HDAC inhibitor compounds to treat Duchenne muscular dystrophy. [PDF]

Mol Ther Nucleic Acids
English KG, Alexander MS.
europepmc   +1 more source

Gene dosage and protein valency impact phase separation and fungal cell fate. [PDF]

PLoS Genet
Ganser C, He P, Frazer C, Krysan DJ, Bennett RJ.   +4 more
europepmc   +1 more source