|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
|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
|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
|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
|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
|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
|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
|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
|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, 2011
|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
|Identification of novel ROR2 gene mutations in Indian children with Robinow syndrome|
PM Tamhankar, L Vasudevan, S Kondurkar
Journal of clinical research in pediatric endocrinology 6 (2), 79, 2014
|Phenotypic variability in congenital lipoid adrenal hyperplasia|
R Joshi, D Das, P Tamhankar, S Shaikh
Indian Pediatr 51 (5), 399-400, 2014
|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
|Lipoid proteinosis: Histopathological characterization of early papulovesicular lesions|
R Gutte, S Sanghvi, P Tamhankar, U Khopkar
Indian dermatology online journal 3 (2), 148, 2012
|Profile of patients with Von Gierke disease from India|
PM Tamhankar, V Boggula, KM Girisha, SR Phadke
Indian pediatrics 49 (3), 228-230, 2012
|Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients|
PM Tamhankar, SV Iyer, S Ravindran, N Gupta, M Kabra, C Nayak, ...
Indian Journal of Dermatology, Venereology, and Leprology 81 (1), 16, 2015
|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
|Clinical and haematological features in a compound heterozygote (HBB: c. 92+ 5G> C/HBB: c. 93‐2A> C) case of thalassaemia major|
S Agarwal, PM Tamhankar, R Kumar, A Dalal
International journal of laboratory hematology 32 (3), 369-372, 2010
|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
|Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation.|
PM Tamhankar, R Merchant, A Shah
Indian journal of pediatrics 83 (5), 473-474, 2015