Ritual In caz contrar Fără gene agt homozygos heterozygos aaa ac cc Dreptunghi recuperare chirurg
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
Frontiers | Haplotype-specific chromatin looping reveals genetic interactions of regulatory regions modulating gene expression in 8p23.1
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
A Novel Abetalipoproteinemia Genotype - Journal of Biological Chemistry
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
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
Site-specific gene targeting in mouse embryonic stem cells with intact bacterial artificial chromosomes | Nature Biotechnology
Frontiers | A Novel Homozygous Mutation Destabilizes IKKβ and Leads to Human Combined Immunodeficiency
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
Genotype–phenotype correlations in recessive titinopathies - ScienceDirect
Cells | Free Full-Text | Genetic Variations and mRNA Expression of Goat DNAH1 and Their Associations with Litter Size | HTML
Frontiers | A Heterozygous LMF1 Gene Mutation (c.1523C>T), Combined With an LPL Gene Mutation (c.590G>A), Aggravates the Clinical Symptoms in Hypertriglyceridemia
Overexpression of human O6-alkylguanine DNA alkyltransferase (AGT) prevents MNU induced lymphomas in heterozygous p53 deficient mice | Oncogene
Primers Used for PCR Amplification and Sequencing of 3 Fibrinogen... | Download Table
The primer set used to amplify KCNJ11, the gene that encodes Kir6.2,... | Download Table
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
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
Two novel biallelic mutations in <em>PSMC3IP</em> in a patient affected by premature ovarian insufficiency
A Novel Missense Mutation in the EDAR Gene and One Missense Mutation in EDA Gene in the Study of HED Patients in Iran
PDF) Cystinosis and two rare mutations in CTNS gene: two case reports
Application of Cas12a and nCas9-activation-induced cytidine deaminase for genome editing and as a non-sexual strategy to generat
PDF) Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report
Human Peroxisome Assembly Factor-2 (PAF-2): A Gene Responsible for Group C Peroxisome Biogenesis Disorder in Humans