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Parag Tamhankar
Parag Tamhankar
ICMR Genetic Research center
Verified email at nirrh.res.in
Title
Cited by
Cited by
Year
Molecular and clinical heterogeneity in CLCN7‐dependent osteopetrosis: report of 20 novel mutations
A Pangrazio, M Pusch, E Caldana, A Frattini, E Lanino, PM Tamhankar, ...
Human mutation 31 (1), E1071-E1080, 2010
832010
Prevention of homozygous beta thalassemia by premarital screening and prenatal diagnosis in India
PM Tamhankar, S Agarwal, V Arya, R Kumar, UR Gupta, SS Agarwal
Prenatal Diagnosis: Published in Affiliation With the International Society …, 2009
692009
Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India
M Mistri, PM Tamhankar, F Sheth, D Sanghavi, P Kondurkar, S Patil, ...
PLoS One 7 (6), e39122, 2012
412012
GALNS mutations in Indian patients with mucopolysaccharidosis IVA
AM Bidchol, A Dalal, H Shah, S Nampoothiri, M Kabra, N Gupta, S Danda, ...
American Journal of Medical Genetics Part A 164 (11), 2793-2801, 2014
392014
Genetic predisposition of E-selectin gene (S128R) polymorphism in patients with coronary artery disease (CAD)
R Tripathi, PK Singh, S Tewari, PM Tamhankar, V Ramesh, S Agarwal
Indian Journal of Medical Research 130 (4), 423, 2009
282009
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease
C Ankleshwaria, M Mistri, A Bavdekar, M Muranjan, U Dave, P Tamhankar, ...
Journal of human genetics 59 (4), 223-228, 2014
272014
Mutation analysis of mitogen activated protein kinase 1 gene in Indian cases of 46, XY disorder of sex development
DK Das, SG Rahate, BP Mehta, HM Gawde, PM Tamhankar
Indian journal of human genetics 19 (4), 437, 2013
252013
Diagnosis of Down syndrome and detection of origin of nondisjunction by short tandem repeat analysis
S Jain, S Agarwal, I Panigrahi, P Tamhankar, S Phadke
Genetic Testing and Molecular Biomarkers 14 (4), 489-491, 2010
252010
Clinical applications and implications of common and founder mutations in Indian subpopulations
A Ankala, PM Tamhankar, CA Valencia, KK Rayam, MM Kumar, ...
Human mutation 36 (1), 1-10, 2015
242015
Lack of association of primary iron overload and common HFE gene mutations with liver cirrhosis in adult Indian population
S Jain, S Agarwal, P Tamhankar, P Verma, G Choudhuri
Indian Journal of Gastroenterology 30 (4), 161-165, 2011
182011
Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients
P Tamhankar, S Iyer, S Ravindran, N Gupta, M Kabra, C Nayak, M Kura, ...
Indian Journal of Dermatology, Venereology and Leprology 81 (1), 16, 2015
142015
A novel hypomorphic CSF1R gene mutation in the biallelic state leading to fatal childhood neurodegeneration
PM Tamhankar, B Zhu, VP Tamhankar, S Mithbawkar, L Seabra, ...
Neuropediatrics 51 (04), 302-306, 2020
132020
Identification of novel ROR2 gene mutations in Indian children with Robinow syndrome
PM Tamhankar, L Vasudevan, S Kondurkar, K Yashaswini, SK Agarwalla, ...
Journal of clinical research in pediatric endocrinology 6 (2), 79, 2014
132014
Spectrum of SMPD1 mutations in Asian‐Indian patients with acid sphingomyelinase (ASM)‐deficient Niemann–Pick disease
P Ranganath, D Matta, GSL Bhavani, S Wangnekar, JMN Jain, IC Verma, ...
American Journal of Medical Genetics Part A 170 (10), 2719-2730, 2016
112016
Lipoid proteinosis: Histopathological characterization of early papulovesicular lesions
R Gutte, S Sanghvi, P Tamhankar, U Khopkar
Indian Dermatology Online Journal 3 (2), 148, 2012
112012
Lenz-Majewski syndrome: Report of a case with novel mutation in PTDSS1 gene
PM Tamhankar, L Vasudevan, V Bansal, SR Menon, HM Gawde, ...
European Journal of Medical Genetics 58 (8), 392-399, 2015
102015
Phenotypic variability in congenital lipoid adrenal hyperplasia
R Joshi, D Das, P Tamhankar, S Shaikh
Indian Pediatr 51 (5), 399-400, 2014
102014
Profile of patients with Von Gierke disease from India
PM Tamhankar, V Boggula, KM Girisha, SR Phadke
Indian pediatrics 49 (3), 228-230, 2012
102012
Rubinstein Taybi syndrome in an Indian child due to EP300 gene mutation
PM Tamhankar, R Merchant, A Shah
The Indian Journal of Pediatrics 83 (5), 473-474, 2016
92016
Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease
PM Tamhankar, M Mistri, P Kondurkar, D Sanghavi, J Sheth
Journal of human genetics 61 (2), 163-166, 2016
92016
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