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Human Genomics|November 25, 2025
Analysis of a deeply-phenotyped familial hypercholesterolemia cohort from Mexico shows a role for both rare and common alleles across known dyslipidemia genes and reveals structural variation in a novel locusNicholas Katsanis, Niki Mourtzi, Consuelo D Quinto-Cortés, et al.
American Journal of Human Genetics|May 6, 2014
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apneaFan Xia, Matthew N Bainbridge, Tiong Yang Tan, et al.
Scientific Reports|February 27, 2024
The role of susceptibility-weighted imaging & contrast-enhanced MRI in the diagnosis of primary CNS vasculitis: a large case seriesSushant Agarwal, Leve Joseph Devarajan Sebastian, Shailesh Gaikwad, et al.
Scientific Reports|August 5, 2022
Primary CNS vasculitis (PCNSV): a cohort studyAyush Agarwal, Jyoti Sharma, M V Padma Srivastava, et al.
Biorxiv : the Preprint Server for Biology|April 1, 2025
Spatial patterning of fibroblast TGFβ signaling underlies treatment resistance in rheumatoid arthritisKartik Bhamidipati, Alexa B R McIntyre, Shideh Kazerounian, et al.
Journal of the International Neuropsychological Society : JINS|December 13, 2019
Standardising Dementia Diagnosis Across Linguistic and Educational Diversity: Study Design of the Indian Council of Medical Research-Neurocognitive Tool Box (ICMR-NCTB)Gowri K Iyer, Avanthi Paplikar, Suvarna Alladi, et al.
Dementia and Geriatric Cognitive Disorders|January 7, 2021
Validation of Indian Council of Medical Research Neurocognitive Tool Box in Diagnosis of Mild Cognitive Impairment in India: Lessons from a Harmonization Process in a Linguistically Diverse SocietyRamshekhar N Menon, Feba Varghese, Avanthi Paplikar, et al.
Indian Pediatrics|February 21, 2022
Diagnosis and Management of Global Development Delay: Consensus Guidelines of Growth, Development and Behavioral Pediatrics Chapter, Neurology Chapter and Neurodevelopment Pediatrics Chapter of the Indian Academy of PediatricsMonica Juneja, Arpita Gupta, Smitha Sairam, et al.
Pediatric Pulmonology|February 16, 2023
Validation of an outpatient questionnaire for bronchopulmonary dysplasia controlJoseph M Collaco, Yun Li, Lawrence M Rhein, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 31, 2025
Demographic and Clinical Profiles of Parkinson's Disease in India: Observations from a Nation-Wide Multicenter StudyAsha Kishore, Rupam Borgohain, Divya Kalikavil Puthenveedu, et al.
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