Human Peroxisome Assembly Factor-2 (PAF-2): A Gene Responsible for Group C Peroxisome Biogenesis Disorder in Humans
Predicting chemosensitivity to gemcitabine and cisplatin based on gene polymorphisms and mRNA expression in non-small-cell lung cancer cells | Pharmacogenomics
Genetic Variations and mRNA Expression of Goat DNAH1 and Their Associations with Litter Size
Frequencies of the genotypes and alleles of the AGT gene | Download Table
Frontiers | A Heterozygous LMF1 Gene Mutation (c.1523C>T), Combined With an LPL Gene Mutation (c.590G>A), Aggravates the Clinical Symptoms in Hypertriglyceridemia
Site-specific gene targeting in mouse embryonic stem cells with intact bacterial artificial chromosomes | Nature Biotechnology
A Novel Abetalipoproteinemia Genotype - Journal of Biological Chemistry
Novel mutations in the CYP11B2 gene causing aldosterone synthase deficiency
A Novel Missense Mutation in the EDAR Gene and One Missense Mutation in EDA Gene in the Study of HED Patients in Iran
Frontiers | A Heterozygous LMF1 Gene Mutation (c.1523C>T), Combined With an LPL Gene Mutation (c.590G>A), Aggravates the Clinical Symptoms in Hypertriglyceridemia
PDF) Cystinosis and two rare mutations in CTNS gene: two case reports
CRISPR-Directed Therapeutic Correction at the NCF1 Locus Is Challenged by Frequent Incidence of Chromosomal Deletions: Molecular Therapy - Methods & Clinical Development
PDF) Cystinosis and two rare mutations in CTNS gene: two case reports
Two novel biallelic mutations in <em>PSMC3IP</em> in a patient affected by premature ovarian insufficiency
The primer set used to amplify KCNJ11, the gene that encodes Kir6.2,... | Download Table
Frontiers | Case report: FOXP1 syndrome caused by a de novo splicing variant (c.1652+5 G>A) of the FOXP1 gene
Frontiers | Whole-Exome Sequencing Uncovers Novel Causative Variants and Additional Findings in Three Patients Affected by Glycogen Storage Disease Type VI and Fanconi−Bickel Syndrome
Cells | Free Full-Text | Genetic Variations and mRNA Expression of Goat DNAH1 and Their Associations with Litter Size | HTML
Turkish Journal of Pharmaceutical Sciences
Gene mutation analysis and genetic counseling for patients with non‑syndromic hearing loss in Linyi region
Genes | Free Full-Text | Association of Polymorphisms in the Long Non-Coding RNA HOTAIR with Recurrent Pregnancy Loss in a Korean Population | HTML
Frontiers | Haplotype-specific chromatin looping reveals genetic interactions of regulatory regions modulating gene expression in 8p23.1
IJMS | Free Full-Text | Inducible Systemic Gcn1 Deletion in Mice Leads to Transient Body Weight Loss upon Tamoxifen Treatment Associated with Decrease of Fat and Liver Glycogen Storage | HTML
Application of Cas12a and nCas9-activation-induced cytidine deaminase for genome editing and as a non-sexual strategy to generat
Homozygous deletion of exon 9 causes lipoprotein lipase deficiency: possible intron-Alu recombination.
