Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort
Sathya Priya, C., Sen, P., Umashankar, V., Gupta, N., Kabra, M., Kumaramanickavel, G., Stoetzel, C., Dollfus, H., Sripriya, S.
Published in Clinical genetics (01.02.2015)
Published in Clinical genetics (01.02.2015)
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Journal Article
EP10.30: A rare case of recurrent Escobar syndrome diagnosed on ultrasound
Agarwal, N., Lata, K., Kriplani, A., Kabra, M.
Published in Ultrasound in obstetrics & gynecology (01.09.2016)
Published in Ultrasound in obstetrics & gynecology (01.09.2016)
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Journal Article
Conventional vs virtual autopsy with postmortem MRI in phenotypic characterization of stillbirths and fetal malformations
Shruthi, M., Gupta, N., Jana, M., Mridha, A. R., Kumar, A., Agarwal, R., Sharma, R., Deka, D., Gupta, A. K., Kabra, M.
Published in Ultrasound in obstetrics & gynecology (01.02.2018)
Published in Ultrasound in obstetrics & gynecology (01.02.2018)
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Journal Article
Gene copy number alterations in Indian children with B-acute Lymphoblastic Leukemia: Correlation with survival outcome
Agarwal, M., Shukla, R., Dwivedi, S.N., Saxena, R., Luthra, K., Kabra, M., Seth, Rachna
Published in Pediatric hematology oncology journal (01.12.2021)
Published in Pediatric hematology oncology journal (01.12.2021)
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Journal Article
Threshold levels of 25-hydroxyvitamin D and parathyroid hormone for impaired bone health in children with congenital ichthyosis and type IV and V skin
Sethuraman, G., Sreenivas, V., Yenamandra, V.K., Gupta, N., Sharma, V.K., Marwaha, R.K., Bhari, N., Irshad, M., Kabra, M., Thulkar, S.
Published in British journal of dermatology (1951) (01.01.2015)
Published in British journal of dermatology (1951) (01.01.2015)
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Journal Article
Nasopharyngeal teratoma, congenital diaphragmatic hernia and Dandy-Walker malformation - a yet uncharacterized syndrome
Gupta, N., Shastri, S., Singh, P.K., Jana, M., Mridha, A., Verma, G., Kabra, M.
Published in Clinical genetics (01.11.2016)
Published in Clinical genetics (01.11.2016)
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Journal Article
Prevalence of neonatal hypothyroidism in Kangra Valley, Himachal Pradesh
KAPIL, U, JAIN, V, KABRA, M, PANDEY, R. M, SAREEN, N, KHENDUJA, P
Published in European journal of clinical nutrition (01.06.2014)
Published in European journal of clinical nutrition (01.06.2014)
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Journal Article
Autosomal recessive epidermolysis bullosa simplex: report of three cases from India
Yenamandra, V. K., Shamsudheen, K. V., Madhumita, R. C., Rijith, J., Ankit, V., Scaria, V., Sridhar, S., Kabra, M., Sharma, V. K., Sethuraman, G.
Published in Clinical and experimental dermatology (01.10.2017)
Published in Clinical and experimental dermatology (01.10.2017)
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Journal Article
Vitamin D deficiency and rickets in children and adolescents with ichthyosiform erythroderma in type IV and V skin
Chouhan, K., Sethuraman, G., Gupta, N., Sharma, V.K., Kabra, M., Khaitan, B.K., Sreenivas, V, Ramam, M., Kusumakar, S., Thulkar, S., Paller, A.S.
Published in British journal of dermatology (1951) (01.03.2012)
Published in British journal of dermatology (1951) (01.03.2012)
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Journal Article
Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness
Park, H-J, Shaukat, S, Liu, X-Z, Hahn, S H, Naz, S, Ghosh, M, Kim, H-N, Moon, S-K, Abe, S, Tukamoto, K, Riazuddin, S, Kabra, M, Erdenetungalag, R, Radnaabazar, J, Khan, S, Pandya, A, Usami, S-I, Nance, W E, Wilcox, E R, Griffith, A J
Published in Journal of medical genetics (01.04.2003)
Published in Journal of medical genetics (01.04.2003)
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Journal Article
Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation
Bashyam, M.D., Chaudhary, A.K., Kiran, M., Reddy, V., Nagarajaram, H.A., Dalal, A., Bashyam, L., Suri, D., Gupta, A., Gupta, N., Kabra, M., Puri, R.D., RamaDevi, R., Kapoor, S., Danda, S.
Published in Clinical genetics (01.12.2014)
Published in Clinical genetics (01.12.2014)
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Journal Article
Arsenic induced apoptosis in rat liver following repeated 60 days exposure
Bashir, Somia, Sharma, Yukti, Irshad, M., Nag, T.C., Tiwari, Monica, Kabra, M., Dogra, T.D.
Published in Toxicology (Amsterdam) (05.01.2006)
Published in Toxicology (Amsterdam) (05.01.2006)
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Journal Article
Status of iodine deficiency in district Kangra, Himachal Pradesh after 60 years of salt iodization
KAPIL, U, PANDEY, R. M, KABRA, M, JAIN, V, SAREEN, N, BHADORIA, A. S, VIJAY, J, NIGAM, S, KHENDUJA, P
Published in European journal of clinical nutrition (01.08.2013)
Published in European journal of clinical nutrition (01.08.2013)
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Journal Article
Mutations of human TMHS cause recessively inherited non-syndromic hearing loss
Shabbir, M I, Ahmed, Z M, Khan, S Y, Riazuddin, Saima, Waryah, A M, Khan, S N, Camps, R D, Ghosh, M, Kabra, M, Belyantseva, I A, Friedman, T B, Riazuddin, Sheikh
Published in Journal of medical genetics (01.08.2006)
Published in Journal of medical genetics (01.08.2006)
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Journal Article
A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India
Bashyam, M.D., Chaudhary, A.K., Reddy, E.C., Reddy, V., Acharya, V., Nagarajaram, H.A., Devi, A.R.R., Bashyam, L., Dalal, A.B., Gupta, N., Kabra, M., Agarwal, M., Phadke, S.R., Tainwala, R., Kumar, R., Hariharan, S.V.
Published in British journal of dermatology (1951) (01.04.2012)
Published in British journal of dermatology (1951) (01.04.2012)
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Journal Article