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Indian Journal of Pediatrics|May 27, 2020
Methylene Tetrahydrofolate Reductase DeficiencyRavneet Kaur, Alec Reginald Errol Correa, Seema Thakur, et al.Journal of Child Neurology|April 27, 2013
Encephalocraniocutaneous lipomatosis with neurocutaneous melanosisPuneet Jain, Biswaroop Chakrabarty, Atin Kumar, et al.American Journal of Ophthalmology Case Reports|June 16, 2023
Bilateral anterior uveitis as a presenting feature of Juvenile Xanthogranuloma in a neonateBrajesh Lahri, Zakir Hussain, Neerja Gupta, et al.Indian Journal of Pediatrics|April 23, 2013
Fryns syndrome: a lethal birth defect with variable phenotypic expressions in siblingsKamaldeep Arora, Anu Thukral, Rashmi Ranjan Das, et al.European Journal of Medical Genetics|August 18, 2019
First report of THOC6 related intellectual disability (Beaulieu Boycott Innes syndrome) in two siblings from IndiaNeerja Gupta, Sakshi Yadav, Venkatesh Babu Gurramkonda, et al.The Indian Journal of Medical Research|April 29, 2010
Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosisShubha R Phadke, Bjoern Fischer, Neerja Gupta, et al.American Journal of Medical Genetics. Part A|March 30, 2020
Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type IIIShama Perveen, Neerja Gupta, Manoj Kumar, et al.Indian Journal of Ophthalmology|November 15, 2017
Frequency of primary mutations of Leber's hereditary optic neuropathy patients in North Indian populationAnushree Mishra, Saranya Devi, Rohit Saxena, et al.Neurology India|September 11, 2021
Cerebral Venous Sinus Thrombosis in a Child with Lesch-Nyhan SyndromeRanjith K Manokaran, Prashant Jauhari, Biswaroop Chakrabarty, et al.Clinical and Experimental Nephrology|May 27, 2008
Mutations in OCRL1 gene in Indian children with Lowe syndromeSidharth Kumar Sethi, Arvind Bagga, Ashima Gulati, et al.Pageof 20