Guthrie cards for detection of point mutations in phenylketonuria

Spectrum of NSD1 mutations in Sotos and Weaver syndromes.

Journal of medical genetics·2003

[Preimplantation genetic diagnosis and its psychological effects].

Journal de gynecologie, obstetrique et biologie de la reproduction·2003

Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3.

Journal of medical genetics·2003

Prenatal diagnosis of spinal muscular atrophy by genetic analysis of circulating fetal cells.

Lancet (London, England)·2003

Identification of seven novel mutations in the GAN gene.

Human mutation·2003

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

Journal of medical genetics·2003

Targeted left ventricular lead placement in biventricular pacing for heart failure: a national, multicentre, double-blind, randomised controlled trial in Denmark.

Lancet (London, England)·2026

Catheter ablation for symptomatic atrial fibrillation (PVI-SHAM-AF): a randomised, double-blind, sham-controlled, multicentre trial.

Lancet (London, England)·2026

Cardiovascular disease in pregnancy: physiology, global burden, risk stratification, and opportunities in care.

Lancet (London, England)·2026

Aetiology, management, and outcomes of acute heart failure in 17 African countries (THESUS-HF II): a prospective, multicentre, observational cohort study.

Lancet (London, England)·2026

Adverse pregnancy outcomes and long-term cardiovascular disease risk.

Lancet (London, England)·2026

Discontinuation of β-blockers in stable patients with previous myocardial infarction, preserved left ventricular ejection fraction, and no heart failure: a pooled analysis of individual patient data.

Lancet (London, England)·2026

Measuring or estimating glomerular filtration rate in potential kidney donors: a comparative study.

Clinical kidney journal·2026

Reconstruction-dependent differences in brain [18F]FDG PET: a large-scale same-acquisition comparison of Q.Clear and VUE Point FX.

Annals of nuclear medicine·2026

A Comparative Study on the Value of Blood Cellular Indices in Predicting the Outcomes in End Stage Renal Disease.

Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis·2026

Economic impact of standardized hypertension treatment on household income in Argentina: a longitudinal analysis, 2019-2024.

Revista panamericana de salud publica = Pan American journal of public health·2026

Characteristics of corneal donors from local procurement at Lions Eye Bank Jakarta: an eight-year report.

Frontiers in medicine·2026

Efficacy and safety of upadacitinib for Crohn's disease in patients in East Asia: a post hoc analysis of randomized phase 3 studies.

Journal of gastroenterology·2026

Related Experiment Videos

Guthrie cards for detection of point mutations in phenylketonuria

Related Concept Videos

Spectrum of NSD1 mutations in Sotos and Weaver syndromes.

[Preimplantation genetic diagnosis and its psychological effects].

Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3.

Prenatal diagnosis of spinal muscular atrophy by genetic analysis of circulating fetal cells.

Identification of seven novel mutations in the GAN gene.

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

Targeted left ventricular lead placement in biventricular pacing for heart failure: a national, multicentre, double-blind, randomised controlled trial in Denmark.

Catheter ablation for symptomatic atrial fibrillation (PVI-SHAM-AF): a randomised, double-blind, sham-controlled, multicentre trial.

Cardiovascular disease in pregnancy: physiology, global burden, risk stratification, and opportunities in care.

Aetiology, management, and outcomes of acute heart failure in 17 African countries (THESUS-HF II): a prospective, multicentre, observational cohort study.

Adverse pregnancy outcomes and long-term cardiovascular disease risk.

Discontinuation of β-blockers in stable patients with previous myocardial infarction, preserved left ventricular ejection fraction, and no heart failure: a pooled analysis of individual patient data.

Measuring or estimating glomerular filtration rate in potential kidney donors: a comparative study.

Reconstruction-dependent differences in brain [18F]FDG PET: a large-scale same-acquisition comparison of Q.Clear and VUE Point FX.

A Comparative Study on the Value of Blood Cellular Indices in Predicting the Outcomes in End Stage Renal Disease.

Economic impact of standardized hypertension treatment on household income in Argentina: a longitudinal analysis, 2019-2024.

Characteristics of corneal donors from local procurement at Lions Eye Bank Jakarta: an eight-year report.

Efficacy and safety of upadacitinib for Crohn's disease in patients in East Asia: a post hoc analysis of randomized phase 3 studies.

Related Experiment Videos

Guthrie cards for detection of point mutations in phenylketonuria

Related Concept Videos

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