Dinucleotide repeat polymorphism close to IDS gene in Xq27.3-q28 (DXS1113)

A familial case of Coffin-Lowry syndrome caused by RPS6KA3 C.898C>T mutation associated with multiple abnormal brain imaging findings.

Genetic counseling (Geneva, Switzerland)·2015

Deletion of the Coffin-Lowry syndrome gene Rsk2 in mice is associated with impaired spatial learning and reduced control of exploratory behavior.

Behavior genetics·2006

[Costs of diabetes mellitus type 2 and self measurement of blood glucose in Germany].

Versicherungsmedizin·2006

Intracoronary infusion of autologous bone marrow cells and left ventricular function after acute myocardial infarction: a meta-analysis.

Journal of cellular and molecular medicine·2006

[Comorbidity in rheumatoid arthritis of early onset. Effects on outcome parameters].

Zeitschrift fur Rheumatologie·2006

Deoxycholate induces mitochondrial oxidative stress and activates NF-kappaB through multiple mechanisms in HCT-116 colon epithelial cells.

Carcinogenesis·2006

Unlocking the epigenetic code: future Frontiers in predictive biomarkers for intellectual disability in fragile X syndrome.

Human molecular genetics·2026

Mitochondrial dysfunction, metabolic quiescence and premature senescence in CMT4B3 fibroblasts.

Human molecular genetics·2026

CRISPR/dCas9-mediated tuning of DMPK transcription reveals a quantitative relationship between toxic repeat RNA expression and MBNL1 activity in myotonic dystrophy.

Human molecular genetics·2026

Zebrafish knockout models of atxn1a, atxn1b, and atxn1l reveal distinct and shared phenotypic and transcriptomic alterations.

Human molecular genetics·2026

PONG 2.0: allele imputation for the killer cell immunoglobulin-like receptors.

Human molecular genetics·2026

N-acetylcysteine suppresses retinal defects in Drosophila models of SNRNP200-associated retinitis pigmentosa.

Human molecular genetics·2026

Using High-Dimensional Environmental Covariates to Study Genotype by Environment Interaction for Reproductive Traits in Duroc Boars.

Journal of animal science·2026

Toward comprehensive cellular characterization of H&E slides.

Journal of pathology informatics·2026

A Genome-Wide Association Study of Premenstrual Symptoms in Two Nordic Populations.

Biological psychiatry global open science·2026

Predicting gene compensation in disease with graph embedding techniques.

Artificial intelligence in medicine·2026

In silico analysis of missense variants in functional domains of PWWP2A and PWWP2B proteins.

Mutation research·2026

Correlation of polygenic risk score and clinical phenotype in patients with genetic generalized epilepsy.

Epilepsia·2026

Related Experiment Videos

Dinucleotide repeat polymorphism close to IDS gene in Xq27.3-q28 (DXS1113)

Related Concept Videos

A familial case of Coffin-Lowry syndrome caused by RPS6KA3 C.898C>T mutation associated with multiple abnormal brain imaging findings.

Deletion of the Coffin-Lowry syndrome gene Rsk2 in mice is associated with impaired spatial learning and reduced control of exploratory behavior.

[Costs of diabetes mellitus type 2 and self measurement of blood glucose in Germany].

Intracoronary infusion of autologous bone marrow cells and left ventricular function after acute myocardial infarction: a meta-analysis.

[Comorbidity in rheumatoid arthritis of early onset. Effects on outcome parameters].

Deoxycholate induces mitochondrial oxidative stress and activates NF-kappaB through multiple mechanisms in HCT-116 colon epithelial cells.

Unlocking the epigenetic code: future Frontiers in predictive biomarkers for intellectual disability in fragile X syndrome.

Mitochondrial dysfunction, metabolic quiescence and premature senescence in CMT4B3 fibroblasts.

CRISPR/dCas9-mediated tuning of DMPK transcription reveals a quantitative relationship between toxic repeat RNA expression and MBNL1 activity in myotonic dystrophy.

Zebrafish knockout models of atxn1a, atxn1b, and atxn1l reveal distinct and shared phenotypic and transcriptomic alterations.

PONG 2.0: allele imputation for the killer cell immunoglobulin-like receptors.

N-acetylcysteine suppresses retinal defects in Drosophila models of SNRNP200-associated retinitis pigmentosa.

Using High-Dimensional Environmental Covariates to Study Genotype by Environment Interaction for Reproductive Traits in Duroc Boars.

Toward comprehensive cellular characterization of H&E slides.

A Genome-Wide Association Study of Premenstrual Symptoms in Two Nordic Populations.

Predicting gene compensation in disease with graph embedding techniques.

In silico analysis of missense variants in functional domains of PWWP2A and PWWP2B proteins.

Correlation of polygenic risk score and clinical phenotype in patients with genetic generalized epilepsy.

Related Experiment Videos

Dinucleotide repeat polymorphism close to IDS gene in Xq27.3-q28 (DXS1113)

Related Concept Videos

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