Metabolic and genetic determinants of HDL metabolism and hepatic lipase activity in normolipidemic females - Journal of Lipid Research
PDF) Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report
Whole exome sequencing and methylation‑specific multiplex ligation‑dependent probe amplification applied to identify Angelman syndrome due to paternal uniparental disomy in two unrelated patients
A Novel Abetalipoproteinemia Genotype - Journal of Biological Chemistry
Primers Used for PCR Amplification and Sequencing of 3 Fibrinogen... | Download Table
EP0711833A2 - Survival motor neuron (SMN) gene: a gene for spinal muscular atrophy - Google Patents
Genotype–phenotype correlations in recessive titinopathies - ScienceDirect
Homozygous deletion of exon 9 causes lipoprotein lipase deficiency: possible intron-Alu recombination.
Application of Cas12a and nCas9-activation-induced cytidine deaminase for genome editing and as a non-sexual strategy to generat
Predicting chemosensitivity to gemcitabine and cisplatin based on gene polymorphisms and mRNA expression in non-small-cell lung cancer cells | Pharmacogenomics
PDF) Analysis of reninangiotensin aldosterone system gene polymorphisms in Malaysian essential hypertensive and type 2 diabetic subjects
Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death | PLOS ONE
Genes | Free Full-Text | Association of Polymorphisms in the Long Non-Coding RNA HOTAIR with Recurrent Pregnancy Loss in a Korean Population | HTML
Cells | Free Full-Text | Genetic Variations and mRNA Expression of Goat DNAH1 and Their Associations with Litter Size | HTML
A Novel Missense Mutation in the EDAR Gene and One Missense Mutation in EDA Gene in the Study of HED Patients in Iran
Genes | Free Full-Text | Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL | HTML
Human Peroxisome Assembly Factor-2 (PAF-2): A Gene Responsible for Group C Peroxisome Biogenesis Disorder in Humans
Novel mutations in the CYP11B2 gene causing aldosterone synthase deficiency
Frontiers | A Heterozygous LMF1 Gene Mutation (c.1523C>T), Combined With an LPL Gene Mutation (c.590G>A), Aggravates the Clinical Symptoms in Hypertriglyceridemia
Frontiers | Case report: FOXP1 syndrome caused by a de novo splicing variant (c.1652+5 G>A) of the FOXP1 gene
Frontiers | A Heterozygous LMF1 Gene Mutation (c.1523C>T), Combined With an LPL Gene Mutation (c.590G>A), Aggravates the Clinical Symptoms in Hypertriglyceridemia
Frontiers | Haplotype-specific chromatin looping reveals genetic interactions of regulatory regions modulating gene expression in 8p23.1
Frontiers | A Novel Homozygous Mutation Destabilizes IKKβ and Leads to Human Combined Immunodeficiency
CRISPR-Directed Therapeutic Correction at the NCF1 Locus Is Challenged by Frequent Incidence of Chromosomal Deletions: Molecular Therapy - Methods & Clinical Development
Frequencies of the genotypes and alleles of the AGT gene | Download Table
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
Turkish Journal of Pharmaceutical Sciences
