PDF) Cystinosis and two rare mutations in CTNS gene: two case reports
Human Peroxisome Assembly Factor-2 (PAF-2): A Gene Responsible for Group C Peroxisome Biogenesis Disorder in Humans
Site-specific gene targeting in mouse embryonic stem cells with intact bacterial artificial chromosomes | Nature Biotechnology
Cells | Free Full-Text | Genetic Variations and mRNA Expression of Goat DNAH1 and Their Associations with Litter Size | HTML
CRISPR-Directed Therapeutic Correction at the NCF1 Locus Is Challenged by Frequent Incidence of Chromosomal Deletions: Molecular Therapy - Methods & Clinical Development
PDF) Analysis of reninangiotensin aldosterone system gene polymorphisms in Malaysian essential hypertensive and type 2 diabetic subjects
Genetic Variations and mRNA Expression of Goat DNAH1 and Their Associations with Litter Size
Frontiers | A Heterozygous LMF1 Gene Mutation (c.1523C>T), Combined With an LPL Gene Mutation (c.590G>A), Aggravates the Clinical Symptoms in Hypertriglyceridemia
A Novel Abetalipoproteinemia Genotype - Journal of Biological Chemistry
Frontiers | A Novel Homozygous Mutation Destabilizes IKKβ and Leads to Human Combined Immunodeficiency
Application of Cas12a and nCas9-activation-induced cytidine deaminase for genome editing and as a non-sexual strategy to generat
Genotype–phenotype correlations in recessive titinopathies - ScienceDirect
Gene mutation analysis and genetic counseling for patients with non‑syndromic hearing loss in Linyi region
Diagnostics | Free Full-Text | Molecular Characterization of a Novel Splicing Mutation Underlying Mucopolysaccharidosis (MPS) Type VI—Indirect Proof of Principle on Its Pathogenicity | HTML
Frontiers | Case report: FOXP1 syndrome caused by a de novo splicing variant (c.1652+5 G>A) of the FOXP1 gene
EP0711833A2 - Survival motor neuron (SMN) gene: a gene for spinal muscular atrophy - Google Patents
Genes | Free Full-Text | Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL | HTML
PDF) Gene Polymorphisms of the Renin-Angiotensin-Aldosterone System as Risk Factors for the Development of In-Stent Restenosis in Patients with Stable Coronary Artery Disease
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
Primers Used for PCR Amplification and Sequencing of 3 Fibrinogen... | 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
Overexpression of human O6-alkylguanine DNA alkyltransferase (AGT) prevents MNU induced lymphomas in heterozygous p53 deficient mice | Oncogene
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
The primer set used to amplify KCNJ11, the gene that encodes Kir6.2,... | Download Table
Metabolic and genetic determinants of HDL metabolism and hepatic lipase activity in normolipidemic females - Journal of Lipid Research
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
