Phenylketonuria: epitome of human biochemical genetics (second 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

Continuous Glucose Monitoring in Non-Insulin-Treated Type 2 Diabetes.

The New England journal of medicine·2026

Adult Attention Deficit-Hyperactivity Disorder.

The New England journal of medicine·2026

Long-Acting HIV Therapy in African Adults with Adherence Challenges.

The New England journal of medicine·2026

Phase 2 Trial of Icotrokinra for Patients with Ulcerative Colitis.

The New England journal of medicine·2026

Ponatinib-Blinatumomab or Imatinib-Chemotherapy for Adult Ph-Positive ALL.

The New England journal of medicine·2026

Intermittent or Continuous Renal-Replacement Therapy in Acute Kidney Injury.

The New England journal of medicine·2026

Combined Karyotyping, Copy Number Variation Sequencing, and Whole Exome Sequencing in the Prenatal Diagnosis of Congenital Heart Disease: Detection Rates and Phenotypic Associations.

Journal of clinical laboratory analysis·2026

Advancing genetic pathogenicity prediction with three-dimensional proteoform-phenotype analysis.

medRxiv : the preprint server for health sciences·2026

Genetic Spectrum and Family-Based Cascade Screening in Vietnamese Families With Autosomal Dominant Polycystic Kidney Disease.

Nephrology (Carlton, Vic.)·2026

Construction of an AI-Assisted Pedigree Mapping System for Hereditary Gynecological Tumors: Algorithm Development and Pilot Validation Study.

JMIR medical informatics·2026

Characteristics of predicated pathogenic missense variants in human genes for Mendelian disorders.

Frontiers in bioinformatics·2026

Identification and splicing assessment of a novel homozygous CFAP65 splice-site variant associated with oligozoospermia and complete asthenozoospermia.

BMC medical genomics·2026

Related Experiment Videos

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

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?

Continuous Glucose Monitoring in Non-Insulin-Treated Type 2 Diabetes.

Adult Attention Deficit-Hyperactivity Disorder.

Long-Acting HIV Therapy in African Adults with Adherence Challenges.

Phase 2 Trial of Icotrokinra for Patients with Ulcerative Colitis.

Ponatinib-Blinatumomab or Imatinib-Chemotherapy for Adult Ph-Positive ALL.

Intermittent or Continuous Renal-Replacement Therapy in Acute Kidney Injury.

Combined Karyotyping, Copy Number Variation Sequencing, and Whole Exome Sequencing in the Prenatal Diagnosis of Congenital Heart Disease: Detection Rates and Phenotypic Associations.

Advancing genetic pathogenicity prediction with three-dimensional proteoform-phenotype analysis.

Genetic Spectrum and Family-Based Cascade Screening in Vietnamese Families With Autosomal Dominant Polycystic Kidney Disease.

Construction of an AI-Assisted Pedigree Mapping System for Hereditary Gynecological Tumors: Algorithm Development and Pilot Validation Study.

Characteristics of predicated pathogenic missense variants in human genes for Mendelian disorders.

Identification and splicing assessment of a novel homozygous CFAP65 splice-site variant associated with oligozoospermia and complete asthenozoospermia.

Related Experiment Videos

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

Related Concept Videos

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