Publications by authors named "Daniel Roshan"

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Germline activating sequence variations in RASopathy spectrum genes: genotype-phenotype correlation in a North Indian cohort.
Shifali Gupta, Priyanka Srivastava, Roshan Daniel, Chitra Bhardwaj, Parminder Kaur

Front Genet· November 2025

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A Novel Presentation and Variable Phenotypic Spectrum of Homozygous Start-Loss Variant in LYRM7-Associated Mitochondrial Complex III Deficiency.
Noel Deep Luke, Aditya Vijayakrishnan Nair, Ajith Sivadasan, Karthik Muthusamy, Maya Mary Thomas, Roshan Daniel

Am J Med Genet A· September 2025

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Elective Termination of Pregnancies Due to Fetal Congenital Anomalies: Utility of Various Investigating Modalities for Etiological Diagnosis of Congenital Anomalies.
Roshan Daniel, Inusha Panigrahi, Priyanka Srivastava, Snigdha Kumari, Neelam Agarwal

Fetal Pediatr Pathol· September 2025

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Estrogen Receptor 1 Gene Polymorphism and its Association with Idiopathic Short Stature in a North Indian Population.
Ravi Shankar Patel, Roshan Daniel, Chitra Bhardwaj, Anu Kumari, Pratibha Bawa

J Clin Res Pediatr Endocrinol· September 2024

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Cost and cost-effectiveness of treatments for rheumatic heart disease in low- and middle-income countries: a systematic review protocol.
Mona Thangamma Ag, Bhavya Vidyadharan, Roshan P Daniel, Andria Sirur, Praveen Kumar

JBI Evid Synth· September 2024

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Clinical and molecular characterisation of children with monogenic obesity: a case series.
Arun George, Santhosh Navi, Pamali Nanda, Roshan Daniel, Kiran Anand

Pediatr Endocrinol Diabetes Metab· July 2024

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Severity Scoring Cutoff for MLPA and Its Diagnostic Yield in 332 North Indian Children with Developmental Delay.
Priyanka Srivastava, Parminder Kaur, Roshan Daniel, Chakshu Chaudhry, Anit Kaur

J Pediatr Genet· June 2024

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Biallelic novel variants in causing Brittle Cornea Syndrome 1: a detailed report of an Indian patient.
Shifali Gupta, Anu Kumari, Roshan Daniel, Sonam Yangzes, Priyanka Srivastava

Ophthalmic Genet· June 2024

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Pattern Recognition of Common Multiple Congenital Malformation Syndromes with Underlying Chromatinopathy.
Anupriya Kaur, Chakshu Chaudhry, Parminder Kaur, Roshan Daniel, Priyanka Srivastava

J Pediatr Genet· March 2024

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Characterization of the CYP21A2 Gene Mutations in Children with Classic Congenital Adrenal Hyperplasia.
Shaily Saraf, Priyanka Srivastava, Inusha Panigrahi, Venu Seenappa, Rakesh Kumar, Roshan Daniel

Indian J Pediatr· February 2024

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Neurofibromatosis type 1: Clinical characteristics and mutation spectrum in a North Indian cohort.
Priyanka Srivastava, Shifali Gupta, Chitra Bamba, Roshan Daniel, Parminder Kaur

Heliyon· January 2024

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Renal Amyloidosis in a Child with Recessive Dystrophic Epidermolysis Bullosa Due to a Novel Variant in Gene.
Roshan Daniel, Lesa Dawman, Ritambhra Nada, Aravind Sekar, Rahul Mahajan

Indian J Nephrol· August 2023

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Maternal transmission of congenital eye disease: can Vitamin A help?
Anupriya Kaur, Roshan Daniel, Snigdha Kumari

Ophthalmic Genet· February 2023

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Health-related quality of life and fatigue perception in children with congenital adrenal hyperplasia: A Developing nation perspective.
Roshan Daniel, Jaivinder Yadav, Rakesh Kumar, Prahbhjot Malhi, Akhilesh Sharma

Pediatr Endocrinol Diabetes Metab· February 2022

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INFANT WITH MANDIBULAR SWELLING: A CASE OF INFANTILE CORTICAL HYPEROSTOSIS.
Rakesh K Pilania, Roshan Daniel, Anish Bhattacharya, Deepti Suri

J Paediatr Child Health· August 2020

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Catastrophes due to missing complements: C1q deficiency lupus with Kikuchi-Fujimoto disease and macrophage activation syndrome.
Himanshi Chaudhary, Roshan Daniel, Rakesh Kumar Pilania, Gummadi Anjani, Madhubala Sharma

Rheumatology (Oxford)· July 2020

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Catastrophes due to missing complements: C1q deficiency lupus with Kikuchi-Fujimoto disease and macrophage activation syndrome.
Himanshi Chaudhary, Roshan Daniel, Rakesh Kumar Pilania, Gummadi Anjani, Madhubala Sharma

Rheumatology (Oxford)· July 2020

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Successful pregnancy outcome in Ehlers-Danlos syndrome, vascular type.
Maria Palmquist, John G Pappas, Boris Petrikovsky, Karin Blakemore, Daniel Roshan

J Matern Fetal Neonatal Med· October 2009

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Antenatal treatment of fetal goiter: a therapeutic challenge.
Anat Hanono, Bina Shah, Raphael David, Irving Buterman, Daniel Roshan

J Matern Fetal Neonatal Med· January 2009

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Obstetric management of Klippel-Trenaunay syndrome.
Andrei Rebarber, Ashley S Roman, Daniel Roshan, Francine Blei

Obstet Gynecol· November 2004

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Vaginal fetal fibronectin as a predictor of spontaneous preterm delivery after multifetal pregnancy reduction.
Ashley S Roman, Andrei Rebarber, Heather Lipkind, Jeanine Mulholland, Victoria Minior, Daniel Roshan

Am J Obstet Gynecol· January 2004

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