Human genetics of membrane transport with emphasis on amino acids

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

Genetic aspects of immunoglobulin A deficiency.

Advances in human genetics·1990

Structural defects in inherited and giant platelet disorders.

Advances in human genetics·1990

A Germline Missense Variant in the NSDHL Gene Underlies Inflammatory Linear Verrucous Epidermal Nevus.

Pediatric dermatology·2026

A Situational Assessment of the Diagnostic Landscape and Organizational Readiness to Implement Next-Generation Sequencing at Two Childhood Cancer Treatment Centers in Ghana.

Pediatric blood & cancer·2026

Case Report: Clinical and molecular genetic analysis of a patient with coexisting complete androgen insensitivity syndrome and neurofibromatosis type 1 and 15pstk + polymorphism.

Frontiers in pediatrics·2026

Three-dimensional facial gestalt analysis for three neurodevelopmental disorders: Koolen-de Vries, Jansen-de Vries and KBG syndrome.

European journal of human genetics : EJHG·2026

Identification of rare maternal copy number variants by genome-wide analysis of noninvasive prenatal screening data in 113,017 pregnant women.

Annals of medicine·2026

Familial short stature: genetic architecture, risk stratification, and precision management.

Frontiers in endocrinology·2026

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Human genetics of membrane transport with emphasis on amino acids

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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?

Genetic aspects of immunoglobulin A deficiency.

Structural defects in inherited and giant platelet disorders.

A Germline Missense Variant in the NSDHL Gene Underlies Inflammatory Linear Verrucous Epidermal Nevus.

A Situational Assessment of the Diagnostic Landscape and Organizational Readiness to Implement Next-Generation Sequencing at Two Childhood Cancer Treatment Centers in Ghana.

Case Report: Clinical and molecular genetic analysis of a patient with coexisting complete androgen insensitivity syndrome and neurofibromatosis type 1 and 15pstk + polymorphism.

Three-dimensional facial gestalt analysis for three neurodevelopmental disorders: Koolen-de Vries, Jansen-de Vries and KBG syndrome.

Identification of rare maternal copy number variants by genome-wide analysis of noninvasive prenatal screening data in 113,017 pregnant women.

Familial short stature: genetic architecture, risk stratification, and precision management.

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Human genetics of membrane transport with emphasis on amino acids

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