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Genotype–phenotype correlations in recessive titinopathies - ScienceDirect
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
Cells | Free Full-Text | Genetic Variations and mRNA Expression of Goat DNAH1 and Their Associations with Litter Size | HTML

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
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

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 | A Heterozygous LMF1 Gene Mutation (c.1523C>T), Combined With an LPL Gene Mutation (c.590G>A), Aggravates the Clinical Symptoms in Hypertriglyceridemia

Frequencies of the genotypes and alleles of the AGT gene | Download Table
Frequencies of the genotypes and alleles of the AGT gene | Download Table

Diagnostics | Free Full-Text | Molecular Characterization of a Novel Splicing Mutation Underlying Mucopolysaccharidosis (MPS) Type VI—Indirect Proof of Principle on Its Pathogenicity | 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

Two novel biallelic mutations in <em>PSMC3IP</em> in a patient affected by premature ovarian insufficiency
Two novel biallelic mutations in <em>PSMC3IP</em> in a patient affected by premature ovarian insufficiency

EP0711833A2 - Survival motor neuron (SMN) gene: a gene for spinal muscular atrophy - Google Patents
EP0711833A2 - Survival motor neuron (SMN) gene: a gene for spinal muscular atrophy - Google Patents

CRISPR-Directed Therapeutic Correction at the NCF1 Locus Is Challenged by Frequent Incidence of Chromosomal Deletions: Molecular Therapy - Methods & Clinical Development
CRISPR-Directed Therapeutic Correction at the NCF1 Locus Is Challenged by Frequent Incidence of Chromosomal Deletions: Molecular Therapy - Methods & Clinical Development

PDF) Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report
PDF) Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report

Application of Cas12a and nCas9-activation-induced cytidine deaminase for genome editing and as a non-sexual strategy to generat
Application of Cas12a and nCas9-activation-induced cytidine deaminase for genome editing and as a non-sexual strategy to generat

PDF) Analysis of reninangiotensin aldosterone system gene polymorphisms in Malaysian essential hypertensive and type 2 diabetic subjects
PDF) Analysis of reninangiotensin aldosterone system gene polymorphisms in Malaysian essential hypertensive and type 2 diabetic subjects

Frontiers | A Novel Homozygous Mutation Destabilizes IKKβ and Leads to Human Combined Immunodeficiency
Frontiers | A Novel Homozygous Mutation Destabilizes IKKβ and Leads to Human Combined Immunodeficiency

The primer set used to amplify KCNJ11, the gene that encodes Kir6.2,... | Download Table
The primer set used to amplify KCNJ11, the gene that encodes Kir6.2,... | Download Table

Overexpression of human O6-alkylguanine DNA alkyltransferase (AGT) prevents MNU induced lymphomas in heterozygous p53 deficient mice | Oncogene
Overexpression of human O6-alkylguanine DNA alkyltransferase (AGT) prevents MNU induced lymphomas in heterozygous p53 deficient mice | Oncogene

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 | 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 | Haplotype-specific chromatin looping reveals genetic interactions of regulatory regions modulating gene expression in 8p23.1

Homozygous deletion of exon 9 causes lipoprotein lipase deficiency: possible intron-Alu recombination.
Homozygous deletion of exon 9 causes lipoprotein lipase deficiency: possible intron-Alu recombination.

Genetic Variations and mRNA Expression of Goat DNAH1 and Their Associations with Litter Size
Genetic Variations and mRNA Expression of Goat DNAH1 and Their Associations with Litter Size

Site-specific gene targeting in mouse embryonic stem cells with intact bacterial artificial chromosomes | Nature Biotechnology
Site-specific gene targeting in mouse embryonic stem cells with intact bacterial artificial chromosomes | Nature Biotechnology

A Novel Abetalipoproteinemia Genotype - Journal of Biological Chemistry
A Novel Abetalipoproteinemia Genotype - Journal of Biological Chemistry

Frontiers | Case report: FOXP1 syndrome caused by a de novo splicing variant (c.1652+5 G>A) of the FOXP1 gene
Frontiers | Case report: FOXP1 syndrome caused by a de novo splicing variant (c.1652+5 G>A) of the FOXP1 gene

Genes | Free Full-Text | Association of Polymorphisms in the Long Non-Coding RNA HOTAIR with Recurrent Pregnancy Loss in a Korean Population | HTML
Genes | Free Full-Text | Association of Polymorphisms in the Long Non-Coding RNA HOTAIR with Recurrent Pregnancy Loss in a Korean Population | HTML

Genes | Free Full-Text | Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL | HTML
Genes | Free Full-Text | Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL | HTML