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Current Oncology (Toronto, Ont.)|March 26, 2025
Chest Wall Perforator Flaps in Breast Conservation: Versatile, Affordable, and Scalable: Insights from the Largest Single-Surgeon Audit from IndiaC B Koppiker, Rupa Mishra, Vaibhav Jain, et al.
Genetic Testing and Molecular Biomarkers|May 27, 2016
Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their OutcomesDeepti Gupta, Sunita Bijarnia-Mahay, Sudha Kohli, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|November 17, 2021
Next Generation Sequencing and Cytogenetic Based Evaluation of Indian Pierre Robin Sequence Families Reveals CNV Regions of Modest Effect and a Novel LOXL3 MutationAnubhuti Sood, Uzma Shamim, Om P Kharbanda, et al.
Annals of Human Genetics|April 22, 2022
A novel leaky splice variant in centromere protein J (CENPJ)-associated Seckel syndromeNavneesh Yadav, Laxmi Kirola, Thenral S Geetha, et al.
Indian Pediatrics|January 16, 2020
Newborn Screening and Diagnosis of Infants with Congenital Adrenal HyperplasiaPallavi Vats, Aashima Dabas, Vandana Jain, et al.
European Journal of Human Genetics : EJHG|December 13, 2012
Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7Ramesh Reddy, Elie Akoury, Ngoc Minh Phuong Nguyen, et al.
European Heart Journal. Cardiovascular Imaging|October 20, 2019
Clarifying the anatomy of common arterial trunk: a clinical study of 70 patientsSaurabh Kumar Gupta, Abhinav Aggarwal, Manish Shaw, et al.
Indian Journal of Pediatrics|July 5, 2026
Impact of Enzyme Replacement Therapy on Patients with Late Onset Pompe Disease - Real World Data from a Developing CountrySwasti Pal, Sunita Bijarnia-Mahay, Sheela Nampoothiri, et al.
Indian Pediatrics|February 23, 2023
Consensus Statement of the Neurodevelopmental Pediatrics Chapter of Indian Academy of Pediatrics (IAP) on the Management of Children With Down SyndromeShaji Thomas John, Kizhanipurath Gayathri, Shabina Ahmed, et al.
Clinical Genetics|November 6, 2018
Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndromePuneeth H Somashekar, Katta M Girisha, Sheela Nampoothiri, et al.
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