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American Journal of Medical Genetics. Part A|May 21, 2020
Bi-allelic loss-of-function novel variants in LTBP3-related skeletal dysplasia: Report of first patient from IndiaRavneet Kaur, Ishrat Siddiqui, Vijay Mathur, et al.Clinical Genetics|July 8, 2026
Non-Coding c.*6C>T Variant in RBM8A Associated With Thrombocytopenia-Absent Radius (TAR) Syndrome in Three Indian PatientsNitika Langeh, Reddipalli Sharath, Mohammed Tahir Ansari, et al.Indian Journal of Pediatrics|July 7, 2023
Clinical and Molecular Spectrum of Patients with Methylmalonic AcidemiaNeerja Gupta, Mounika Endrakanti, Meenakshi Bhat, et al.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.Pageof 21