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IJMS | Free Full-Text | Molecular Mechanism of Autosomal Recessive Long  QT-Syndrome 1 without Deafness | HTML
IJMS | Free Full-Text | Molecular Mechanism of Autosomal Recessive Long QT-Syndrome 1 without Deafness | HTML

Pedigrees of the families and genetic sequencing findings. (A) The... |  Download Scientific Diagram
Pedigrees of the families and genetic sequencing findings. (A) The... | Download Scientific Diagram

A pair of primers facing at the double-strand break site enables to detect  NHEJ-mediated indel mutations at a 1-bp resolution | Scientific Reports
A pair of primers facing at the double-strand break site enables to detect NHEJ-mediated indel mutations at a 1-bp resolution | Scientific Reports

Genetic factors contributing to hypertension in African‐based populations: A  systematic review and meta‐analysis - Yako - 2018 - The Journal of Clinical  Hypertension - Wiley Online Library
Genetic factors contributing to hypertension in African‐based populations: A systematic review and meta‐analysis - Yako - 2018 - The Journal of Clinical Hypertension - Wiley Online Library

Novel Homozygous Nonsense Mutation Associated with Bardet-Biedl Syndrome in  Fetus with Congenital Renal Malformation
Novel Homozygous Nonsense Mutation Associated with Bardet-Biedl Syndrome in Fetus with Congenital Renal Malformation

Genetic aberration in primary hepatocellular carcinoma: correlation between  p53 gene mutation and loss-of-hetero- zygosity on chromosome 16q21-q23 and  9p21-p23 | Cell Research
Genetic aberration in primary hepatocellular carcinoma: correlation between p53 gene mutation and loss-of-hetero- zygosity on chromosome 16q21-q23 and 9p21-p23 | Cell Research

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

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

USB1 mutations and related aberrant transcripts identified in the PN... |  Download Scientific Diagram
USB1 mutations and related aberrant transcripts identified in the PN... | Download Scientific Diagram

Frequency distribution of cytokine and associated transcription factor  single nucleotide polymorphisms in Zimbabweans: Impact on schistosome  infection and cytokine levels | PLOS Neglected Tropical Diseases
Frequency distribution of cytokine and associated transcription factor single nucleotide polymorphisms in Zimbabweans: Impact on schistosome infection and cytokine levels | PLOS Neglected Tropical Diseases

Frontiers | Case Report: Complete Maternal Uniparental Disomy of Chromosome  2 With a Novel UNC80 Splicing Variant c.5609-4G> A in a Chinese Patient  With Infantile Hypotonia With Psychomotor Retardation and Characteristic  Facies
Frontiers | Case Report: Complete Maternal Uniparental Disomy of Chromosome 2 With a Novel UNC80 Splicing Variant c.5609-4G> A in a Chinese Patient With Infantile Hypotonia With Psychomotor Retardation and Characteristic Facies

Vascular pathology to vascular dementia is it multifactorial or due to  still unknown factors?
Vascular pathology to vascular dementia is it multifactorial or due to still unknown factors?

Allele vs Genotype vs Haplotype and More | IDT
Allele vs Genotype vs Haplotype and More | IDT

Frontiers | Locating a novel autosomal recessive genetic variant in the  cattle glucokinase gene using only WGS data from three cases and six  carriers
Frontiers | Locating a novel autosomal recessive genetic variant in the cattle glucokinase gene using only WGS data from three cases and six carriers

FIG4 variants in central European patients with amyotrophic lateral  sclerosis: a whole-exome and targeted sequencing study | European Journal  of Human Genetics
FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study | European Journal of Human Genetics

Cureus | Genetic Markers PLEKHA7, ABCC5, and KALRN Are Not Associated With  the Progression of Primary Angle Closure Glaucoma (PACG) in Malays
Cureus | Genetic Markers PLEKHA7, ABCC5, and KALRN Are Not Associated With the Progression of Primary Angle Closure Glaucoma (PACG) in Malays

Cells | Free Full-Text | Effect of Hydrocortisone on Angiotensinogen (AGT)  Mutation–Causing Autosomal Recessive Renal Tubular Dysgenesis | HTML
Cells | Free Full-Text | Effect of Hydrocortisone on Angiotensinogen (AGT) Mutation–Causing Autosomal Recessive Renal Tubular Dysgenesis | HTML

Parkinsonism & Related Disorders
Parkinsonism & Related Disorders

IJMS | Free Full-Text | Derived Polymorphic Amplified Cleaved Sequence  (dPACS): A Novel PCR-RFLP Procedure for Detecting Known Single Nucleotide  and Deletion–Insertion Polymorphisms | HTML
IJMS | Free Full-Text | Derived Polymorphic Amplified Cleaved Sequence (dPACS): A Novel PCR-RFLP Procedure for Detecting Known Single Nucleotide and Deletion–Insertion Polymorphisms | HTML

Heterozygous Genotype: Traits and Diseases
Heterozygous Genotype: Traits and Diseases

Homozygous vs Heterozygous Genotype - YouTube
Homozygous vs Heterozygous Genotype - YouTube

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

A Novel Missense Mutation in the EDAR Gene and One Missense Mutation in EDA  Gene in the Study of HED Patients in Iran | Iranian Journal of Pediatrics |  Full Text
A Novel Missense Mutation in the EDAR Gene and One Missense Mutation in EDA Gene in the Study of HED Patients in Iran | Iranian Journal of Pediatrics | Full Text

Associations between the rs5498 (A > G) and rs281432 (C > G) polymorphisms  of the ICAM1 gene and atherosclerotic cardiovascular disease risk,  including hypercholesterolemia [PeerJ]
Associations between the rs5498 (A > G) and rs281432 (C > G) polymorphisms of the ICAM1 gene and atherosclerotic cardiovascular disease risk, including hypercholesterolemia [PeerJ]

Allele vs Genotype vs Haplotype and More | IDT
Allele vs Genotype vs Haplotype and More | IDT

Protein Encoded by the AxinFu Allele Effectively Down-regulates Wnt  Signaling but Exerts a Dominant Negative Effect on c-Jun N-terminal Kinase  Signaling* - Journal of Biological Chemistry
Protein Encoded by the AxinFu Allele Effectively Down-regulates Wnt Signaling but Exerts a Dominant Negative Effect on c-Jun N-terminal Kinase Signaling* - Journal of Biological Chemistry

INTRODUCTION
INTRODUCTION

Allele vs Genotype vs Haplotype and More | IDT
Allele vs Genotype vs Haplotype and More | IDT