Smith-Lemlie-Opitz syndrome in an Indian child

Organic Acidemias in India: Clinical and Molecular Spectrum.

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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

Comparative Proteomics Analysis of Serum Exosomes Reveals Distinct Infection Profiles and Potential Biomarkers for Pediatric Tuberculosis.

Indian pediatrics·2026

Music Therapy for Well-being in the Growing Years.

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Oral Zinc Supplementation as an Adjunct to Standard Therapy in Children with Steroid-Sensitive Nephrotic Syndrome: A Double-Blind Randomized Controlled Trial.

Indian pediatrics·2026

Comparative Efficacy, Safety, and Cost of Different Intrapleural Fibrinolytic Agents for the Management of Empyema Thoracis in Children: A Systematic Review.

Indian pediatrics·2026

From a Focused Group to a National Movement: Evolution of the Indian Academy of Pediatrics Chapter of Neurodevelopmental Pediatrics (IAP-NDP).

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Intrapleural Fibrinolytic Therapy Versus Video-Assisted Thoracoscopic Surgery, as the Initial Treatment Modality, in Children with Empyema Thoracis: A Systematic Review and Meta-Analysis.

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Expanding the diagnostic lens: Whole exome sequencing in a neonate with arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.

Journal of neonatal-perinatal medicine·2026

Severe Transfusion-Dependent Infantile Hemolytic Anemia Associated With a Novel Homozygous PKLR Variant of Uncertain Significance (c.1376C>G, p.Ala459Gly) and Coexisting G6PD Deficiency: A Case Report.

Cureus·2026

Stage-specific neutrophil states in neonatal injury: from antimicrobial deficiency to pro-resolution repair.

Frontiers in immunology·2026

Glycosylated Fibronectin in Fetal Growth Restriction: An Emerging Biomarker of Placental Dysfunction.

Cureus·2026

Palatoglossal Synechia in a Neonate Causing Severe Feeding Problems and Respiratory Distress: First Case Report from Somalia.

Pediatric health, medicine and therapeutics·2026

Idiopathic Epididymo-Orchitis and Pyocele in a Preterm Newborn: A Case Report.

Case reports in pediatrics·2026

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Smith-Lemlie-Opitz syndrome in an Indian child

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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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From a Focused Group to a National Movement: Evolution of the Indian Academy of Pediatrics Chapter of Neurodevelopmental Pediatrics (IAP-NDP).

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Expanding the diagnostic lens: Whole exome sequencing in a neonate with arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.

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Smith-Lemlie-Opitz syndrome in an Indian child

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