The use of biochemical data in screening for mutant alleles and in genetic counselling

A Commentary on Multiple Screening for Aminoacidopathies in the Newborn Infant.

Canadian Medical Association journal·2010

What we know that could influence future treatment of phenylketonuria.

Journal of inherited metabolic disease·2008

The birth prevalence of PKU in populations of European, South Asian and sub-Saharan African ancestry living in South East England.

Annals of human genetics·2008

Recommendations for locus-specific databases and their curation.

Human mutation·2007

CpG methylation accounts for a recurrent mutation (c.1222C>T) in the human PAH gene.

Human mutation·2006

After the genome--the phenome?

Journal of inherited metabolic disease·2004

Evidence for Reduced Somatic T-Cell Receptor Sequence Diversity Profiles Among Midwestern Amish in an Aging Cohort Study.

Annals of human genetics·2026

MYLK c.4079G>A, p.(Gly1360Asp) Variant Associated With Hereditary Thoracic Aortic Diseases and Early Onset Aortic Dissection.

Annals of human genetics·2026

Exome Sequencing Identifies Novel Variants Causing Hearing Loss in Three Consanguineous Pakistani Families: Insights From Genomics and Bioinformatics Analyses.

Annals of human genetics·2026

What Uniparental Lineages Tell Us About the Prehistoric Human Colonization of the Americas.

Annals of human genetics·2026

Genomic Structural Equation Modeling Identifies a Shared Inflammatory Genetic Dimension Across Inflammatory Arthritis Phenotypes and Biomarkers.

Annals of human genetics·2026

Genetically Proxied Leukocyte Telomere Length and Epigenetic Age Acceleration in Relation to Healthspan: A Mendelian Randomization Study.

Annals of human genetics·2026

Primary Native Bile Culture Patterns Collected During ERCP: Microbial Profiles in Malignant Versus Benign Biliary Obstruction.

Microorganisms·2026

Normalization Strategies for miRNA RT-qPCR in Blood-Derived Samples in Obesity Research: Current Practices and Methodological Considerations.

International journal of molecular sciences·2026

Urinary Metabolomics in Bladder Cancer: A Scoping Review of Current Evidence and Translation Implications.

International journal of molecular sciences·2026

Non-Invasive Distal Airway Proteomics by Particles in Exhaled Air (PExA) Sampling Demonstrates Shared Proteomic Features with Matched Bronchoalveolar Lavage.

Biomolecules·2026

Flow Cytometric Detection of Bone Marrow Cell Populations Phenotypically Compatible with Neuroblastoma: An Exploratory Comparison with Conventional Methods.

Cancers·2026

Agreement between home sperm testing and computer-assisted and manual semen analysis for motile sperm concentration.

Clinical and experimental reproductive medicine·2026

Related Experiment Videos

The use of biochemical data in screening for mutant alleles and in genetic counselling

Related Concept Videos

A Commentary on Multiple Screening for Aminoacidopathies in the Newborn Infant.

What we know that could influence future treatment of phenylketonuria.

The birth prevalence of PKU in populations of European, South Asian and sub-Saharan African ancestry living in South East England.

Recommendations for locus-specific databases and their curation.

CpG methylation accounts for a recurrent mutation (c.1222C>T) in the human PAH gene.

After the genome--the phenome?

Evidence for Reduced Somatic T-Cell Receptor Sequence Diversity Profiles Among Midwestern Amish in an Aging Cohort Study.

MYLK c.4079G>A, p.(Gly1360Asp) Variant Associated With Hereditary Thoracic Aortic Diseases and Early Onset Aortic Dissection.

Exome Sequencing Identifies Novel Variants Causing Hearing Loss in Three Consanguineous Pakistani Families: Insights From Genomics and Bioinformatics Analyses.

What Uniparental Lineages Tell Us About the Prehistoric Human Colonization of the Americas.

Genomic Structural Equation Modeling Identifies a Shared Inflammatory Genetic Dimension Across Inflammatory Arthritis Phenotypes and Biomarkers.

Genetically Proxied Leukocyte Telomere Length and Epigenetic Age Acceleration in Relation to Healthspan: A Mendelian Randomization Study.

Primary Native Bile Culture Patterns Collected During ERCP: Microbial Profiles in Malignant Versus Benign Biliary Obstruction.

Normalization Strategies for miRNA RT-qPCR in Blood-Derived Samples in Obesity Research: Current Practices and Methodological Considerations.

Urinary Metabolomics in Bladder Cancer: A Scoping Review of Current Evidence and Translation Implications.

Non-Invasive Distal Airway Proteomics by Particles in Exhaled Air (PExA) Sampling Demonstrates Shared Proteomic Features with Matched Bronchoalveolar Lavage.

Flow Cytometric Detection of Bone Marrow Cell Populations Phenotypically Compatible with Neuroblastoma: An Exploratory Comparison with Conventional Methods.

Agreement between home sperm testing and computer-assisted and manual semen analysis for motile sperm concentration.

Related Experiment Videos

The use of biochemical data in screening for mutant alleles and in genetic counselling

Related Concept Videos

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