Results 11 to 20 of about 612,806 (292)

Maternal Transmission of the PAX7 Single Nucleotide Polymorphisms among Indian Cleft Trios

open access: yesGlobal Medical Genetics, 2023
Cleft lip and/or cleft palate (CL/P) is one of the most common congenital anomalies of the human face with a complex etiology involving multiple genetic and environmental factors. Several studies have shown the association of the paired box 7 (PAX7) gene
Mahamad Irfanulla Khan   +3 more
doaj   +1 more source

GBS-SNP-CROP: a reference-optional pipeline for SNP discovery and plant germplasm characterization using variable length, paired-end genotyping-by-sequencing data [PDF]

open access: yes, 2016
Background: With its simple library preparation and robust approach to genome reduction, genotyping-by-sequencing (GBS) is a flexible and cost-effective strategy for SNP discovery and genotyping, provided an appropriate reference genome is available. For
Bartaula, Radhika   +2 more
core   +2 more sources

Effect of genotypes for growth hormone gene in Awassi ewes on milk production and components [PDF]

open access: yesMesopotamia Journal of Agriculture, 2023
This study was conducted in the Department of Animal Production/College of Agriculture and Forestry/University of Mosul from 3/4/2022 to 3/2/2023, by using forty Awassi ewes aged between 3-5 years and with an average weight of (42 kg).
Haitham Hadi   +2 more
doaj   +1 more source

Multicenter Outbreak of Infections by Saprochaete clavata, an Unrecognized Opportunistic Fungal Pathogen

open access: yesmBio, 2014
Rapidly fatal cases of invasive fungal infections due to a fungus later identified as Saprochaete clavata were reported in France in May 2012. The objectives of this study were to determine the clonal relatedness of the isolates and to investigate ...
Sophie Vaux   +8 more
doaj   +1 more source

Minimum target prices for production of direct acting antivirals and associated diagnostics to combat Hepatitis C Virus [PDF]

open access: yes, 2014
Combinations of direct-acting antivirals (DAAs) can cure hepatitis C virus (HCV) in the majority of treatment-naïve patients. Mass treatment programs to cure HCV in developing countries are only feasible if the costs of treatment and laboratory ...
Cooke, GS   +6 more
core   +2 more sources

Generation of a human iPSC line from a patient with Leber congenital amaurosis caused by mutation in AIPL1

open access: yesStem Cell Research, 2018
The human induced pluripotent stem cell (hiPSC) line, derived from dermal fibroblasts from Leber congenital amaurosis patient with homozygous mutation c.265 T > C, p.Cys89Arg in aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) was generated ...
Dunja Lukovic   +6 more
doaj   +1 more source

Comprehensive evaluation of structural variation detection algorithms for whole genome sequencing

open access: yesGenome Biology, 2019
Background Structural variations (SVs) or copy number variations (CNVs) greatly impact the functions of the genes encoded in the genome and are responsible for diverse human diseases.
Shunichi Kosugi   +5 more
doaj   +1 more source

The Polymorphism of Pituitary Factor 1 (POU1F1) in Cattle

open access: yesScientific Papers Animal Science and Biotechnologies, 2023
The development and function of mammary gland is mainly controlled by growth hormone and prolactin, two protein hormones secreted by the anterior pituitary gland.
Teodora Crina Carsai   +3 more
doaj  

Generation of an iPSC line from a retinitis pigmentosa patient carrying a homozygous mutation in CERKL and a healthy sibling

open access: yesStem Cell Research, 2019
Dermal fibroblasts from an autosomal recessive retinitis pigmentosa (RP) patient, homozygous for the mutation c.769 C>T, p.Arg257Ter, in CERKL (Ceramide Kinase-Like) gene, and a healthy sibling were derived and reprogrammed by Sendai virus. The generated
Arantxa Bolinches-Amorós   +6 more
doaj   +1 more source

Clinical application of high throughput molecular screening techniques for pharmacogenomics. [PDF]

open access: yes, 2011
Genetic analysis is one of the fastest-growing areas of clinical diagnostics. Fortunately, as our knowledge of clinically relevant genetic variants rapidly expands, so does our ability to detect these variants in patient samples.
Schrijver, Iris, Wiita, Arun P
core   +1 more source

Home - About - Disclaimer - Privacy