Phenylketonuria: epitome of human biochemical genetics (first of two parts)

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

In Vitro Fertilization or Intrauterine Insemination in Unexplained Infertility.

The New England journal of medicine·2026

Gram-Negative Bacterial Resistance.

The New England journal of medicine·2026

Tarlatamab-Durvalumab Maintenance for Extensive-Stage Small-Cell Lung Cancer.

The New England journal of medicine·2026

Sacituzumab Tirumotecan plus Pembrolizumab in PD-L1-Negative Advanced NSCLC.

The New England journal of medicine·2026

Genome-wide selection signatures in Ramlıç sheep identified by complementary ROH and iHS analyses.

Frontiers in veterinary science·2026

Promoter variation in BraHDAC1 modulates stomatal regulation and thermotolerance in Brassica rapa.

The Plant cell·2026

Novel LOX Start-Loss Variant Mimicking Arterial Tortuosity Syndrome in Neonatal Cutis Laxa: A Diagnostic Challenge.

Clinical genetics·2026

Development and Genomic Validation of a Population-Specific SNP Panel for Parentage Verification in Chinese Holstein Cattle.

International journal of molecular sciences·2026

Integrative Genomic Analyses Identify and Prioritize Candidate Loci for Metatarsal Length and Circumference in Broilers.

Animals : an open access journal from MDPI·2026

Development and Validation of a Prediction Model for Severe Male Pattern Baldness in Turkish Male Population Aged 50 Years and Older.

Genes·2026

Phenylketonuria: epitome of human biochemical genetics (first of two parts)

Related Experiment Videos

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?

In Vitro Fertilization or Intrauterine Insemination in Unexplained Infertility.

Gram-Negative Bacterial Resistance.

Tarlatamab-Durvalumab Maintenance for Extensive-Stage Small-Cell Lung Cancer.

Sacituzumab Tirumotecan plus Pembrolizumab in PD-L1-Negative Advanced NSCLC.

Genome-wide selection signatures in Ramlıç sheep identified by complementary ROH and iHS analyses.

Promoter variation in BraHDAC1 modulates stomatal regulation and thermotolerance in Brassica rapa.

Novel LOX Start-Loss Variant Mimicking Arterial Tortuosity Syndrome in Neonatal Cutis Laxa: A Diagnostic Challenge.

Development and Genomic Validation of a Population-Specific SNP Panel for Parentage Verification in Chinese Holstein Cattle.

Integrative Genomic Analyses Identify and Prioritize Candidate Loci for Metatarsal Length and Circumference in Broilers.

Development and Validation of a Prediction Model for Severe Male Pattern Baldness in Turkish Male Population Aged 50 Years and Older.

Phenylketonuria: epitome of human biochemical genetics (first of two parts)

Related Experiment Videos

Related Concept Videos

Related Articles