Roshan Daniel

Chandigarh, CH, India

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 15 publications

Elective Termination of Pregnancies Due to Fetal Congenital Anomalies: Utility of Various Investigating Modalities for Etiological Diagnosis of Congenital Anomalies.

Elective Termination of Pregnancies Due to Fetal Congenital Anomalies: Utility of Various Investigating Modalities for Etiological Diagnosis of Congenital Anomalies.

Journal: Fetal and pediatric pathology

Published: September 11, 2025

Germline activating sequence variations in RASopathy spectrum genes: genotype-phenotype correlation in a North Indian cohort.

Germline activating sequence variations in RASopathy spectrum genes: genotype-phenotype correlation in a North Indian cohort.

Journal: Frontiers in genetics

Published: July 31, 2025

Clinical and molecular characterisation of children with monogenic obesity: a case series.

Clinical and molecular characterisation of children with monogenic obesity: a case series.

Journal: Pediatric endocrinology, diabetes, and metabolism

Published: July 19, 2024

Estrogen Receptor 1 Gene Polymorphism and its Association with Idiopathic Short Stature in a North Indian Population

Estrogen Receptor 1 Gene Polymorphism and its Association with Idiopathic Short Stature in a North Indian Population

Journal: Journal of clinical research in pediatric endocrinology

Published: March 25, 2024

Biallelic novel variants in ZNF469 causing Brittle Cornea Syndrome 1: a detailed report of an Indian patient.

Biallelic novel variants in ZNF469 causing Brittle Cornea Syndrome 1: a detailed report of an Indian patient.

Journal: Ophthalmic genetics

Published: January 30, 2024

Neurofibromatosis type 1: Clinical characteristics and mutation spectrum in a North Indian cohort.

Neurofibromatosis type 1: Clinical characteristics and mutation spectrum in a North Indian cohort.

Journal: Heliyon

Published: September 29, 2023

Maternal transmission of RBP4 congenital eye disease: can Vitamin A help?

Maternal transmission of RBP4 congenital eye disease: can Vitamin A help?

Journal: Ophthalmic genetics

Published: November 07, 2022

Severity Scoring Cutoff for MLPA and Its Diagnostic Yield in 332 North Indian Children with Developmental Delay.

Severity Scoring Cutoff for MLPA and Its Diagnostic Yield in 332 North Indian Children with Developmental Delay.

Journal: Journal of pediatric genetics

Published: February 18, 2022

Health-related quality of life and fatigue perception in children with congenital adrenal hyperplasia: A Developing nation perspective.

Health-related quality of life and fatigue perception in children with congenital adrenal hyperplasia: A Developing nation perspective.

Journal: Pediatric endocrinology, diabetes, and metabolism

Published: February 04, 2022

Pattern Recognition of Common Multiple Congenital Malformation Syndromes with Underlying Chromatinopathy.

Pattern Recognition of Common Multiple Congenital Malformation Syndromes with Underlying Chromatinopathy.

Journal: Journal of pediatric genetics

Published: August 17, 2021

Characterization of the CYP21A2 Gene Mutations in Children with Classic Congenital Adrenal Hyperplasia.

Characterization of the CYP21A2 Gene Mutations in Children with Classic Congenital Adrenal Hyperplasia.

Journal: Indian journal of pediatrics

Published: March 16, 2021

Renal Amyloidosis in a Child with Recessive Dystrophic Epidermolysis Bullosa Due to a Novel Variant in COL7A1 Gene.

Renal Amyloidosis in a Child with Recessive Dystrophic Epidermolysis Bullosa Due to a Novel Variant in COL7A1 Gene.

Journal: Indian journal of nephrology

Published: January 19, 2021

Showing 1-12 of 15

Last Updated: 09/26/2026