suferință pui de somn Influent gene agt homozygos heterozygos aaa ac cc James Dyson Ligatura furculiţă
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
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) 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
Frontiers | Case report: FOXP1 syndrome caused by a de novo splicing variant (c.1652+5 G>A) of the FOXP1 gene
Genetic Variations and mRNA Expression of Goat DNAH1 and Their Associations with Litter Size
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 | Association of Polymorphisms in the Long Non-Coding RNA HOTAIR with Recurrent Pregnancy Loss in a Korean Population | HTML
Primers Used for PCR Amplification and Sequencing of 3 Fibrinogen... | Download Table
Genes | Free Full-Text | Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL | HTML
Diagnostics | Free Full-Text | Molecular Characterization of a Novel Splicing Mutation Underlying Mucopolysaccharidosis (MPS) Type VI—Indirect Proof of Principle on Its Pathogenicity | HTML
The Growth Hormone Receptor Gene is Associated with Mandibular Height in a Chinese Population
Gene mutation analysis and genetic counseling for patients with non‑syndromic hearing loss in Linyi region
PDF) Analysis of reninangiotensin aldosterone system gene polymorphisms in Malaysian essential hypertensive and type 2 diabetic subjects
PDF) Cystinosis and two rare mutations in CTNS gene: two case reports
Frontiers | A Novel Homozygous Mutation Destabilizes IKKβ and Leads to Human Combined Immunodeficiency
Frequencies of the genotypes and alleles of the AGT gene | Download Table
A Novel Abetalipoproteinemia Genotype - Journal of Biological Chemistry
CRISPR-Directed Therapeutic Correction at the NCF1 Locus Is Challenged by Frequent Incidence of Chromosomal Deletions: Molecular Therapy - Methods & Clinical Development
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
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
Cells | Free Full-Text | Genetic Variations and mRNA Expression of Goat DNAH1 and Their Associations with Litter Size | HTML
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
Homozygous deletion of exon 9 causes lipoprotein lipase deficiency: possible intron-Alu recombination.