Prenatal diagnosis of classical phenylketonuria by gene mapping

Forensic postmortem computed tomography in suspected unnatural adult deaths.

European journal of radiology·2020

Phase-contrast and magnification radiography at diagnostic X-ray energies using a pseudo-microfocus X-ray source.

The British journal of radiology·2014

Advances in mammographic imaging.

The British journal of radiology·2010

An investigation into the effects of suboptimal viewing conditions in screen-film mammography.

The British journal of radiology·2008

Double blind placebo control trial of large neutral amino acids in treatment of PKU: effect on blood phenylalanine.

Journal of inherited metabolic disease·2007

The Thrombospondin-related Protein Family of Apicomplexan Parasites: The Gears of the Cell Invasion Machinery.

Parasitology today (Personal ed.)·2006

Low-Voltage Ablation in Persistent Atrial Fibrillation: The IDEAL-AF Randomized Clinical Trial.

JAMA·2026

Gene Silencer Therapy in Transthyretin Amyloid Cardiomyopathy: A Meta-Analysis of Outcomes Trials.

JAMA·2026

124I-Evuzamitide Positron Emission Tomography/Computed Tomography for Diagnosing Cardiac Amyloidosis: The REVEAL Nonrandomized Clinical Trial.

JAMA·2026

Anticoagulation Monotherapy vs Antiplatelet Monotherapy After Transcatheter Aortic Valve Implant: The ACASA-TAVI Randomized Clinical Trial.

JAMA·2026

Digital Outreach to Improve Statin Refills in Patients With Low Statin Adherence: The ADHERE-ASCVD Randomized Clinical Trial.

JAMA·2026

Pulmonary Vein Isolation Using Pulsed Field Ablation With vs Without Posterior Wall Isolation in Patients With Symptomatic Persistent Atrial Fibrillation: The PIFPAF-PFA Randomized Clinical Trial.

JAMA·2026

Spatial Genetic Mapping of Normal Human Prostate Tissue Identifies Epithelial Compartments Enriched for Prostate Cancer Association.

Molecular carcinogenesis·2026

AGG repeat expansion and aggregation of BIN1 in multiple system atrophy.

Brain : a journal of neurology·2026

[Optical genome mapping analysis of a Chinese pedigree with a complex balanced translocation involving four chromosomes].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics·2026

[Pathogenicity analysis and prenatal genetic counseling for five Chinese pedigrees harboring a hemizygous c.-32C>G variant of FGF13 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics·2026

Interim analysis of an international multi-site prospective natural history study evaluating the clinical presentation and progression of Leigh syndrome spectrum disorders.

Therapeutic advances in rare disease·2026

Systematic genotype-phenotype mapping and transcriptomic analyses highlight SEMA6A as a candidate for neuronal migration defects in 5q22-q23 deletions.

Journal of human genetics·2026

Related Experiment Videos

Prenatal diagnosis of classical phenylketonuria by gene mapping

Related Concept Videos

Forensic postmortem computed tomography in suspected unnatural adult deaths.

Phase-contrast and magnification radiography at diagnostic X-ray energies using a pseudo-microfocus X-ray source.

Advances in mammographic imaging.

An investigation into the effects of suboptimal viewing conditions in screen-film mammography.

Double blind placebo control trial of large neutral amino acids in treatment of PKU: effect on blood phenylalanine.

The Thrombospondin-related Protein Family of Apicomplexan Parasites: The Gears of the Cell Invasion Machinery.

Low-Voltage Ablation in Persistent Atrial Fibrillation: The IDEAL-AF Randomized Clinical Trial.

Gene Silencer Therapy in Transthyretin Amyloid Cardiomyopathy: A Meta-Analysis of Outcomes Trials.

124I-Evuzamitide Positron Emission Tomography/Computed Tomography for Diagnosing Cardiac Amyloidosis: The REVEAL Nonrandomized Clinical Trial.

Anticoagulation Monotherapy vs Antiplatelet Monotherapy After Transcatheter Aortic Valve Implant: The ACASA-TAVI Randomized Clinical Trial.

Digital Outreach to Improve Statin Refills in Patients With Low Statin Adherence: The ADHERE-ASCVD Randomized Clinical Trial.

Pulmonary Vein Isolation Using Pulsed Field Ablation With vs Without Posterior Wall Isolation in Patients With Symptomatic Persistent Atrial Fibrillation: The PIFPAF-PFA Randomized Clinical Trial.

Spatial Genetic Mapping of Normal Human Prostate Tissue Identifies Epithelial Compartments Enriched for Prostate Cancer Association.

AGG repeat expansion and aggregation of BIN1 in multiple system atrophy.

[Optical genome mapping analysis of a Chinese pedigree with a complex balanced translocation involving four chromosomes].

[Pathogenicity analysis and prenatal genetic counseling for five Chinese pedigrees harboring a hemizygous c.-32C>G variant of FGF13 gene].

Interim analysis of an international multi-site prospective natural history study evaluating the clinical presentation and progression of Leigh syndrome spectrum disorders.

Systematic genotype-phenotype mapping and transcriptomic analyses highlight SEMA6A as a candidate for neuronal migration defects in 5q22-q23 deletions.

Related Experiment Videos

Prenatal diagnosis of classical phenylketonuria by gene mapping

Related Concept Videos

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