Early diagnosis and prevention of genetic disease

New names for old disciplines.

Journal of inherited metabolic disease·2002

The fragile X-related proteins FXR1P and FXR2P contain a functional nucleolar-targeting signal equivalent to the HIV-1 regulatory proteins.

Human molecular genetics·2000

A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.

Nature genetics·1999

Oligomerization properties of fragile-X mental-retardation protein (FMRP) and the fragile-X-related proteins FXR1P and FXR2P.

The Biochemical journal·1999

Noninvasive test for fragile X syndrome, using hair root analysis.

American journal of human genetics·1999

Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations.

Human molecular genetics·1999

Insulin/C-peptide interpretation in Infants with Hypoglycaemia of Unknown Origin.

Annals of clinical biochemistry·2026

Reduction in Sample Recollection Number Following the Implementation of Automated Pre-Analytical Interference Detection in Coagulation Testing.

Annals of clinical biochemistry·2026

Machine learning for the identification of mild to moderate EDTA contamination of serum samples.

Annals of clinical biochemistry·2026

Optimization of HBsAg retesting process: an improvement in laboratory management system based on health economics.

Annals of clinical biochemistry·2026

A 3-year review of external proficiency testing, evaluating analytical performance and diagnostic accuracy of HELIOS in detecting autoimmune disorders.

Annals of clinical biochemistry·2026

Comparability of serum folate concentration measured by a microbiological method, LC-MS/MS and immunoassay.

Annals of clinical biochemistry·2026

Association of miR-499, miR-27a, and miR-34a Gene Polymorphisms With Susceptibility to Type 2 Diabetes Mellitus in an Iranian Population: A Case-Control Study.

BioMed research international·2026

Atherosclerotic plaque fibroblasts derive from adventitial and medial Pdgfra-lineage-positive cells and predominantly maintain fibroblast identity.

Cardiovascular research·2026

Revealing Causal Proteomic Signatures of Hypertension: Systematic Insights From Proteome-Wide Mendelian Randomization.

Hypertension (Dallas, Tex. : 1979)·2026

Inheritance entropy: A model-independent method to probe the hereditary structure of cell lineage trees.

PRX life·2026

Early life high-fat diet exposure modulates adult metabolic phenotypes in Drosophila.

iScience·2026

Decoding the Link: Exploring FMO3 Gene Variations as a Key to Understanding Type Two Diabetes Through Bioinformatics and Case-Control Analyses.

Indian journal of clinical biochemistry : IJCB·2026

Related Experiment Videos

Early diagnosis and prevention of genetic disease

Related Concept Videos

New names for old disciplines.

The fragile X-related proteins FXR1P and FXR2P contain a functional nucleolar-targeting signal equivalent to the HIV-1 regulatory proteins.

A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.

Oligomerization properties of fragile-X mental-retardation protein (FMRP) and the fragile-X-related proteins FXR1P and FXR2P.

Noninvasive test for fragile X syndrome, using hair root analysis.

Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations.

Insulin/C-peptide interpretation in Infants with Hypoglycaemia of Unknown Origin.

Reduction in Sample Recollection Number Following the Implementation of Automated Pre-Analytical Interference Detection in Coagulation Testing.

Machine learning for the identification of mild to moderate EDTA contamination of serum samples.

Optimization of HBsAg retesting process: an improvement in laboratory management system based on health economics.

A 3-year review of external proficiency testing, evaluating analytical performance and diagnostic accuracy of HELIOS in detecting autoimmune disorders.

Comparability of serum folate concentration measured by a microbiological method, LC-MS/MS and immunoassay.

Association of miR-499, miR-27a, and miR-34a Gene Polymorphisms With Susceptibility to Type 2 Diabetes Mellitus in an Iranian Population: A Case-Control Study.

Atherosclerotic plaque fibroblasts derive from adventitial and medial Pdgfra-lineage-positive cells and predominantly maintain fibroblast identity.

Revealing Causal Proteomic Signatures of Hypertension: Systematic Insights From Proteome-Wide Mendelian Randomization.

Inheritance entropy: A model-independent method to probe the hereditary structure of cell lineage trees.

Early life high-fat diet exposure modulates adult metabolic phenotypes in Drosophila.

Decoding the Link: Exploring FMO3 Gene Variations as a Key to Understanding Type Two Diabetes Through Bioinformatics and Case-Control Analyses.

Related Experiment Videos

Early diagnosis and prevention of genetic disease

Related Concept Videos

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