Towards a structural basis of human non-synonymous single nucleotide polymorphisms

Alterations of oral microbiota and impact on the gut microbiome in type 1 diabetes mellitus revealed by integrated multi-omic analyses.

Microbiome·2022

AnFiSA: An open-source computational platform for the analysis of sequencing data for rare genetic disease.

Journal of biomedical informatics·2022

[The gut microbiome in Parkinson's disease].

Der Nervenarzt·2018

The gut microbiome is associated with behavioural task in honey bees.

Insectes sociaux·2018

Spatial distribution of disease-associated variants in three-dimensional structures of protein complexes.

Oncogenesis·2017

Functional implications of microbial and viral gut metagenome changes in early stage L-DOPA-naïve Parkinson's disease patients.

Genome medicine·2017

Transcription in check at DNA double-strand breaks.

Trends in genetics : TIG·2026

Beyond gene expression: Single-cell transcriptomics at isoform resolution.

Trends in genetics : TIG·2026

Coordinated pre-mRNA processing at the single-transcript level.

Trends in genetics : TIG·2026

Reading another hidden message in the genetic code.

Trends in genetics : TIG·2026

The future of marsupial gene editing: What's in the (tool) pouch?

Trends in genetics : TIG·2026

Genetic suppressors as new therapeutic targets for Mendelian diseases.

Trends in genetics : TIG·2026

MORF4L1, encoding a chromatin remodeler, is mutated in a recognizable dysmorphic neurodevelopmental disorder.

Scientific reports·2026

First nationwide full-genome characterisation of human-derived Andes virus in Chile: a retrospective genomic epidemiology study.

The Lancet. Microbe·2026

Integrated hearing and genetic screening for neonatal deafness in a resource-limited region: insights from Qingyuan, China.

Frontiers in genetics·2026

A Novel <i>FN1</i> Nucleotide Variant c.3051G>C (p.Trp1017Cys) in a Pediatric Patient with Fibronectin Glomerulopathy: Case Report and Literature Review.

Journal of clinical medicine·2026

The Novel HLA-DQA1*01:204 Allele Identified in Asian Female Donor by Next-Generation Sequencing.

HLA·2026

Detailed Clinical Report of Four Individuals from a Nusayri Family with a Rare TNXB Variant: Classical-Like and Hypermobile Types of Ehlers-Danlos Syndrome.

Molecular syndromology·2026

Related Experiment Videos

Towards a structural basis of human non-synonymous single nucleotide polymorphisms

Related Concept Videos

Alterations of oral microbiota and impact on the gut microbiome in type 1 diabetes mellitus revealed by integrated multi-omic analyses.

AnFiSA: An open-source computational platform for the analysis of sequencing data for rare genetic disease.

[The gut microbiome in Parkinson's disease].

The gut microbiome is associated with behavioural task in honey bees.

Spatial distribution of disease-associated variants in three-dimensional structures of protein complexes.

Functional implications of microbial and viral gut metagenome changes in early stage L-DOPA-naïve Parkinson's disease patients.

Transcription in check at DNA double-strand breaks.

Beyond gene expression: Single-cell transcriptomics at isoform resolution.

Coordinated pre-mRNA processing at the single-transcript level.

Reading another hidden message in the genetic code.

The future of marsupial gene editing: What's in the (tool) pouch?

Genetic suppressors as new therapeutic targets for Mendelian diseases.

MORF4L1, encoding a chromatin remodeler, is mutated in a recognizable dysmorphic neurodevelopmental disorder.

First nationwide full-genome characterisation of human-derived Andes virus in Chile: a retrospective genomic epidemiology study.

Integrated hearing and genetic screening for neonatal deafness in a resource-limited region: insights from Qingyuan, China.

A Novel <i>FN1</i> Nucleotide Variant c.3051G>C (p.Trp1017Cys) in a Pediatric Patient with Fibronectin Glomerulopathy: Case Report and Literature Review.

The Novel HLA-DQA1*01:204 Allele Identified in Asian Female Donor by Next-Generation Sequencing.

Detailed Clinical Report of Four Individuals from a Nusayri Family with a Rare TNXB Variant: Classical-Like and Hypermobile Types of Ehlers-Danlos Syndrome.

Related Experiment Videos

Towards a structural basis of human non-synonymous single nucleotide polymorphisms

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