Prenatal diagnosis of genetic disorders

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

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.

Indian pediatrics·2026

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).

Indian pediatrics·2026

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

Indian pediatrics·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 genetic disorders

Related Concept Videos

Organic Acidemias in India: Clinical and Molecular Spectrum.

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

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.

Molecular studies in familial dilated cardiomyopathy - A pilot study.

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

Music Therapy for Well-being in the Growing Years.

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

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

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

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

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 genetic disorders

Related Concept Videos

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