Suchergebnisse - "Daniel, Roshan"

PubPharm (11)

1

Pattern Recognition of Common Multiple Congenital Malformation Syndromes with Underlying Chromatinopathy

enthalten in: Journal of pediatric genetics | 2024

von Kaur, A. | Chaudhry, C. | Kaur, P. | +2

2

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

enthalten in: Journal of clinical research in pediatric endocrinology | 2024

von Patel, R. | Daniel, R. | Bhardwaj, C. | +8

3

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

enthalten in: Ophthalmic genetics | 2024

von Gupta, S. | Kumari, A. | Daniel, R. | +3

4

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

enthalten in: Heliyon | 2024

von Srivastava, P. | Gupta, S. | Bamba, C. | +5

5

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

enthalten in: Indian journal of pediatrics | 2024

von Saraf, S. | Srivastava, P. | Panigrahi, I. | +5

6

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

enthalten in: Ophthalmic genetics | 2023

von Kaur, A. | Daniel, R. | Kumari, S.

7

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

enthalten in: Pediatric endocrinology, diabetes, and metabolism | 2021

von Daniel, R. | Yadav, J. | Kumar, R. | +3

8

INFANT WITH MANDIBULAR SWELLING : A CASE OF INFANTILE CORTICAL HYPEROSTOSIS

enthalten in: Journal of paediatrics and child health | 2020

von Pilania, R. | Daniel, R. | Bhattacharya, A. | +1

9

Catastrophes due to missing complements : C1q deficiency lupus with Kikuchi-Fujimoto disease and macrophage activation syndrome

enthalten in: Rheumatology (Oxford, England) | 2020

von Chaudhary, H. | Daniel, R. | Pilania, R. | +6

ErratumIn: Rheumatology (Oxford). 2020 Jul 1;59(7):1794. - PMID 32060514

10

Catastrophes due to missing complements : C1q deficiency lupus with Kikuchi-Fujimoto disease and macrophage activation syndrome

enthalten in: Rheumatology (Oxford, England) | 2020

von Chaudhary, H. | Daniel, R. | Pilania, R. | +6

ErratumFor: Rheumatology (Oxford). 2020 Jul 1;59(7):1778-1780. - PMID 31873753