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Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.
Laugwitz L, Seibt A, Herebian D, Peralta S, Kienzle I, Buchert R, Falb R, Gauck D, Müller A, Grimmel M, Beck-Woedel S, Kern J, Daliri K, Katibeh P, Danhauser K, Leiz S, Alesi V, Baertling F, Vasco G, Steinfeld R, Wagner M, Caglayan AO, Gumus H, Burmeister M, Mayatepek E, Martinelli D, Tamhankar PM, Tamhankar V, Joset P, Steindl K, Rauch A, Bonnen PE, Froukh T, Groeschel S, Krägeloh-Mann I, Haack TB, Distelmaier F. Laugwitz L, et al. Among authors: tamhankar pm. J Med Genet. 2022 Sep;59(9):878-887. doi: 10.1136/jmedgenet-2021-107729. Epub 2021 Oct 16. J Med Genet. 2022. PMID: 34656997 Free PMC article.
CEDNIK Syndrome: Report of an Ultra-Rare Case from India.
Bansal V, Tamhankar VP, Mithbawkar SM, Tamhankar PM. Bansal V, et al. Among authors: tamhankar pm. Neurol India. 2021 Nov-Dec;69(6):1861-1862. doi: 10.4103/0028-3886.333502. Neurol India. 2021. PMID: 34979712 Free article. No abstract available.
Clinical Characteristics, Molecular Profile, and Outcomes in Indian Patients with Glutaric Aciduria Type 1.
Tamhankar PM, Vasudevan L, Kondurkar P, Niazi S, Christopher R, Solanki D, Dholakia P, Muranjan M, Kamate M, Kalane U, Sheth J, Tamhankar V, Gulati R, Vasikarla M, Danda S, Naushad SM, Girisha KM, Patil S. Tamhankar PM, et al. J Pediatr Genet. 2021 Sep;10(3):213-221. doi: 10.1055/s-0040-1715528. Epub 2020 Sep 2. J Pediatr Genet. 2021. PMID: 34504725 Free PMC article.
Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.
Ranganath P, Matta D, Bhavani GS, Wangnekar S, Jain JM, Verma IC, Kabra M, Puri RD, Danda S, Gupta N, Girisha KM, Sankar VH, Patil SJ, Ramadevi AR, Bhat M, Gowrishankar K, Mandal K, Aggarwal S, Tamhankar PM, Tilak P, Phadke SR, Dalal A. Ranganath P, et al. Among authors: tamhankar pm. Am J Med Genet A. 2016 Oct;170(10):2719-30. doi: 10.1002/ajmg.a.37817. Epub 2016 Jun 24. Am J Med Genet A. 2016. PMID: 27338287
46 results