Decoding of novel missense TSC2 gene variants using in-silico methods
Sudarshan, Shruthi, Kumar, Manoj, Kaur, Punit, Kumar, Atin, G, Sethuraman, Sapra, Savita, Gulati, Sheffali, Gupta, Neerja, Kabra, Madhulika, Roy Chowdhury, Madhumita
Published in BMC medical genetics (26.10.2019)
Published in BMC medical genetics (26.10.2019)
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Journal Article
Pathogenic/likely pathogenic variants in the SHOX, GHR and IGFALS genes among Indian children with idiopathic short stature
Kumar, Anil, Jain, Vandana, Chowdhury, Madhumita Roy, Kumar, Manoj, Kaur, Punit, Kabra, Madhulika
Published in Journal of Pediatric Endocrinology & Metabolism (28.01.2020)
Published in Journal of Pediatric Endocrinology & Metabolism (28.01.2020)
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Journal Article
A report of 5 Indian families with multicentric carpotarsal osteolysis syndrome
Gupta, Neerja, Chakraborty, Soumalya, Chowdhury, Madhumita Roy, Puri, Ratna Dua, Jana, Manisha, Kumari, Indu, Bhatia, Sameer, Kabra, Madhulika
Published in European journal of medical genetics (01.09.2023)
Published in European journal of medical genetics (01.09.2023)
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Journal Article
Application of chromosomal microarrays in the evaluation of intellectual disability/global developmental delay patients – A study from a tertiary care genetic centre in India
Sharma, Pankaj, Gupta, Neerja, Chowdhury, Madhumita Roy, Sapra, Savita, Ghosh, Manju, Gulati, Sheffali, Kabra, Madhulika
Published in Gene (15.09.2016)
Published in Gene (15.09.2016)
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Journal Article
Factor IX gene polymorphisms in Indian population
Chowdhury, Madhumita Roy, Kabra, Madhulika, Menon, P.S.N.
Published in American journal of hematology (01.12.2001)
Published in American journal of hematology (01.12.2001)
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Journal Article
Validation of Polymerase Chain Reaction-Based Assay to Detect Actual Number of CGG Repeats in FMR1 Gene in Indian Fragile X Syndrome Patients
Chowdhury, Madhumita Roy, Chauhan, Sandeepa, Dabral, Anjali, Thelma, B K, Gupta, Neerja, Kabra, Madhulika
Published in Journal of child neurology (01.03.2017)
Published in Journal of child neurology (01.03.2017)
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Journal Article
Prenatal diagnosis of steroid 21-hydroxylase-deficient congenital adrenal hyperplasia: Experience from a tertiary care centre in India
Dubey, Sudhisha, Tardy, Veronique, Chowdhury, Madhumita Roy, Gupta, Neerja, Jain, Vandana, Deka, Deepika, Sharma, Pankaj, Morel, Yves, Kabra, Madhulika
Published in Indian journal of medical research (New Delhi, India : 1994) (01.02.2017)
Published in Indian journal of medical research (New Delhi, India : 1994) (01.02.2017)
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Journal Article
Identification of a novel homozygous mutation in transmembrane channel like 1 ( TMC1 ) gene, one of the second-tier hearing loss genes after GJB2 in India
Singh, Pawan Kumar, Ghosh, Manju, Sharma, Shipra, Shastri, Shivaram, Gupta, Neerja, Chowdhury, Madhumita Roy, Anand, Anuranjan, Kabra, Madhulika
Published in Indian journal of medical research (New Delhi, India : 1994) (01.04.2017)
Published in Indian journal of medical research (New Delhi, India : 1994) (01.04.2017)
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Journal Article
Effectiveness and safety of donepezil in boys with fragile x syndrome: a double-blind, randomized, controlled pilot study
Sahu, Jitendra Kumar, Gulati, Sheffali, Sapra, Savita, Arya, Ravindra, Chauhan, Sandeepa, Chowdhury, Madhumita Roy, Gupta, Neerja, Kabra, Madhulika, Gupta, Y K, Dwivedi, S N, Kalra, Veena
Published in Journal of child neurology (01.05.2013)
Published in Journal of child neurology (01.05.2013)
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Journal Article
Mutation Spectrum of Tuberous Sclerosis Complex Patients in Indian Population
Sudarshan, Shruthi, Kumar, Atin, Gupta, Arun, Bhari, Neetu, Sethuraman, Gomathy, Kaushal, Tanuja, Pradhan, Ankita, Sapra, Savita, Gupta, Neerja, Kaur, Punit, Gulati, Sheffali, Chakrawarty, Biswaroop, Danda, Sumita, Bhatt, Meenakshi, Kapoor, Seema, Girisha, Katta M., Sankhyan, Naveen, Kabra, Madhulika, Chowdhury, Madhumita Roy
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.12.2021)
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.12.2021)
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Journal Article
Application of Chromosomal Microarray and Multiplex Ligation-dependent Probe Amplification in prenatal diagnosis
Sharma, Pankaj, Roy Chowdhury, Madhumita, Gupta, Neerja, Shukla, Rashmi, Sudarshan, Shruthi, Ghosh, Manju, Deka, Deepika, Kabra, Madhulika
Published in Molecular cytogenetics (01.01.2014)
Published in Molecular cytogenetics (01.01.2014)
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Journal Article
Allelic heterogeneity of molecular events in human coagulation factor IX in Asian Indians. Mutation in brief #965. Online
Mahajan, Anubha, Chavali, Sreenivas, Ghosh, Saurabh, Kabra, Madhulika, Chowdhury, Madhumita Roy, Bharadwaj, Dwaipayan
Published in Human mutation (01.05.2007)
Published in Human mutation (01.05.2007)
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Journal Article
Pattern of CYP3A5 and MDR-1 single-nucleotide polymorphism and its impact on Tacrolimus levels and clinical outcomes in living renal allograft recipient
Sangha, Sukhwinder Singh, Yadav, Sushma, Yadav, Raj Kanwar, Kumar, Asheesh, Seenu, Vuthaluru, Agarwal, Sanjay Kumar, Kabra, Madhulika, Chowdhury, Madhumita Roy, Vishwakarma, Vishal Kumar, Bhowmik, Dipankar
Published in RPS Pharmacy and Pharmacology Reports (01.04.2024)
Published in RPS Pharmacy and Pharmacology Reports (01.04.2024)
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Journal Article