Simple urine tests for screennng for inborn errors of metabolism

Organic Acidemias in India: Clinical and Molecular Spectrum.

Indian journal of pediatrics·2026

CDKN1C -Related Beckwith-Wiedemann Syndrome: First Patient from India.

Journal of pediatric genetics·2024

Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias.

European journal of medical genetics·2022

Reversal of Clinical Phenotype of Sotos Syndrome Due to Microduplication of NSD1 Gene.

Indian journal of pediatrics·2022

Clinical and Genetic Profile of Children With Short Stature Presenting to a Genetic Clinic in Northern India.

Indian pediatrics·2022

Molecular studies in familial dilated cardiomyopathy - A pilot study.

International journal of cardiology. Heart & vasculature·2022

Expanding Horizons of Pediatric POCUS: Applications in the Older Child.

Indian journal of pediatrics·2026

Job Satisfaction and Burnout Among Pediatric Intensivists in India: A Nationwide Cross-Sectional Survey.

Indian journal of pediatrics·2026

Interpretation of Lung Ultrasound in POCUS.

Indian journal of pediatrics·2026

Pre-discharge Outcomes of Very Preterm and Very Low Birth Weight Infants from a Tertiary Care Neonatal Center in India.

Indian journal of pediatrics·2026

Finger-actuated microfluidic device for point-of-care circulating cell-free nucleic acid extraction.

Lab on a chip·2026

Extending Quality Control Procedures for Multiplexed Clinical Assays.

Clinical chemistry·2026

Characteristics of Severe and Typical Agranulocytosis Induced by Antithyroid Drugs.

Clinical pharmacology and therapeutics·2026

Severe Alcohol-Associated Lactic Acidosis Presenting With Extreme Hyperlactataemia: A Case Report.

Cureus·2026

STINGing the brain: S-nitrosylation drives neuroinflammation in Alzheimer's disease.

Cell chemical biology·2026

Sigma metric and Quality Goal Index assessment of hemoglobin A1c analytical performance in an ambulatory accredited laboratory.

Laboratory medicine·2026

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Simple urine tests for screennng for inborn errors of metabolism

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Organic Acidemias in India: Clinical and Molecular Spectrum.

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Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias.

Reversal of Clinical Phenotype of Sotos Syndrome Due to Microduplication of NSD1 Gene.

Clinical and Genetic Profile of Children With Short Stature Presenting to a Genetic Clinic in Northern India.

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Sigma metric and Quality Goal Index assessment of hemoglobin A1c analytical performance in an ambulatory accredited laboratory.

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