Focus on the molecular genetics of phenylketonuria

The Tyrolean Founder MLH1 Variant c.836T>G Causes Lynch Syndrome Due to a Leaky Splice Effect.

Biomolecules·2026

Strategic Development of the Genetic Counselor Profession in Germany, Austria, and Switzerland: The Establishment of the GfH Genetic Counselor Commission.

Journal of genetic counseling·2026

Harmonising the scope of practice for genetic counsellors in the D-A-CH region: a cross-border consensus for Germany, Austria, and Switzerland.

European journal of human genetics : EJHG·2026

HiFi sequencing accurately identifies clinically relevant variants in paralogous genes.

American journal of human genetics·2026

GenKom-PKU: Improving Patient-Provider Communication in Phenylketonuria.

Studies in health technology and informatics·2026

Reporting practices for secondary findings among ERN GENTURIS member institutions in 15 European countries.

European journal of human genetics : EJHG·2026

Potentially Deleterious Nonsynonymous Single Nucleotide Polymorphisms (nsSNPs) in the Human MCPH1 Gene: Systematic In Silico Predictions and Implications for Structure and Function.

Human mutation·2026

Phenotypes of Hereditary Diseases Associated With Rauch-Steindl Syndrome.

Human mutation·2026

Human Variation-Informed Prioritization of MPHOSPH6 in Lung Adenocarcinoma: A Source-Aware Multiomics Evidence Framework.

Human mutation·2026

Computational Characterization of Pathogenic LMNA Missense Variants: Structural Instability, Altered Binding, and Conformational Dynamics.

Human mutation·2026

Identification of PD-1-Related Genes as Prognostic Biomarkers in Lung Adenocarcinoma.

Human mutation·2026

A Novel Homozygous Mutation in ARL2BP Causes Multiple Morphological Abnormalities of the Flagella and Primary Ciliary Dyskinesia.

Human mutation·2026

Comprehensive analysis of non-synonymous single-nucleotide polymorphism of human TSC1 and TSC2 genes: An in silico approach.

PloS one·2026

Genome-wide candidate signatures of divergent selection between broody Silkie and White Leghorn chickens revealed by high-density SNP genotyping.

British poultry science·2026

Successful radiofrequency catheter ablation of right-sided focal atrial tachycardia in a patient with Holt-Oram syndrome: a case report.

Frontiers in cardiovascular medicine·2026

SNP genotyping in Pseudotsuga menziesii and Pinus radiata using targeted genotyping-by-sequencing (GBS): improved Bayesian SNP calling using a beta-binomial distribution and other optimized input parameters.

BMC genomics·2026

Causal Effects of Lipoproteins and Lipids on Atrial Fibrillation: A Mendelian Randomization Study.

Lipids·2026

Dissecting the shared genetic architecture and biological mechanisms linking sleep traits and suicide attempts: from variants to genes.

Molecular psychiatry·2026

Related Experiment Videos

Focus on the molecular genetics of phenylketonuria

Related Concept Videos

The Tyrolean Founder MLH1 Variant c.836T>G Causes Lynch Syndrome Due to a Leaky Splice Effect.

Strategic Development of the Genetic Counselor Profession in Germany, Austria, and Switzerland: The Establishment of the GfH Genetic Counselor Commission.

Harmonising the scope of practice for genetic counsellors in the D-A-CH region: a cross-border consensus for Germany, Austria, and Switzerland.

HiFi sequencing accurately identifies clinically relevant variants in paralogous genes.

GenKom-PKU: Improving Patient-Provider Communication in Phenylketonuria.

Reporting practices for secondary findings among ERN GENTURIS member institutions in 15 European countries.

Potentially Deleterious Nonsynonymous Single Nucleotide Polymorphisms (nsSNPs) in the Human MCPH1 Gene: Systematic In Silico Predictions and Implications for Structure and Function.

Phenotypes of Hereditary Diseases Associated With Rauch-Steindl Syndrome.

Human Variation-Informed Prioritization of MPHOSPH6 in Lung Adenocarcinoma: A Source-Aware Multiomics Evidence Framework.

Computational Characterization of Pathogenic LMNA Missense Variants: Structural Instability, Altered Binding, and Conformational Dynamics.

Identification of PD-1-Related Genes as Prognostic Biomarkers in Lung Adenocarcinoma.

A Novel Homozygous Mutation in ARL2BP Causes Multiple Morphological Abnormalities of the Flagella and Primary Ciliary Dyskinesia.

Comprehensive analysis of non-synonymous single-nucleotide polymorphism of human TSC1 and TSC2 genes: An in silico approach.

Genome-wide candidate signatures of divergent selection between broody Silkie and White Leghorn chickens revealed by high-density SNP genotyping.

Successful radiofrequency catheter ablation of right-sided focal atrial tachycardia in a patient with Holt-Oram syndrome: a case report.

SNP genotyping in Pseudotsuga menziesii and Pinus radiata using targeted genotyping-by-sequencing (GBS): improved Bayesian SNP calling using a beta-binomial distribution and other optimized input parameters.

Causal Effects of Lipoproteins and Lipids on Atrial Fibrillation: A Mendelian Randomization Study.

Dissecting the shared genetic architecture and biological mechanisms linking sleep traits and suicide attempts: from variants to genes.

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Focus on the molecular genetics of phenylketonuria

Related Concept Videos

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