Approach to inborn errors of metabolism presenting in the neonate (2008)
Sharma, S,
Kumar, P,
Agarwal, R,
Kabra, M,
Deorari, AK,
Paul, VK
Fragile X screening for FRAXA and FRAXE mutations using PCR based studies: Results of a five year study (2006)
Chowdhury, MR,
Kabra, M,
Sharma, D,
Singh, D,
Dabral, A,
Thelma, B,
...
Cytogenetic causes for recurrent spontaneous abortions - An experience of 742 couples (1484 cases) (2005)
Dubey, S,
Chowdhury, M,
Prahlad, B,
Kumar, V,
Mathur, R,
Hamilton, S,
...
Novel missense mutation in the coagulation factor IX catalytic domain associated with severe haemophilia B- Factor $IX_{Delhi}$ (2004)
Mahajan, A,
Sharma, A,
Chavali, S,
Kabra, M,
Chowdhury, MR,
Srinivasan, N,
...
Factor IX is a vitamin K-dependent serine protease, which exists as a zymogen in the blood. On activation to factor IXa, by factor XIa or tissue factor factor VIIa complex, it forms tenase complex...
Can throat swab after physiotherapy replace sputum for identification of microbial pathogens in children with cystic fibrosis? (2004)
Kabra, S,
Alok, A,
Kapil, A,
Aggarwal, G,
Kabra, M,
Lodha, R,
...
Novel missense mutation in the coagulation factor IX catalytic domain associated with severe haemophilia B- Factor $IX_{Delhi}$ (2004)
Mahajan, A,
Sharma, A,
Chavali, S,
Kabra, M,
Chowdhury, MR,
Srinivasan, N,
...
Factor IX is a vitamin K-dependent serine protease, which exists as a zymogen in the blood. On activation to factor IXa, by factor XIa or tissue factor factor VIIa complex, it forms tenase complex...
Congenital myotonic dystrophy. (2001)
Gulati, S,
Kabra, M,
Gera, S,
Kalra, V,
Saxena, R,
Verma, I
Mitochondrial myopathy presenting as ataxia with dilated cardiomyopathy. (2001)
Gulati, S,
Das, GA,
Kabra, M,
Juneja, R,
Sharma, M,
Kalra, V
Hypocalcemic heart failure masquerading as dilated cardiomyopathy. (2001)
Gulati, S,
Bajpai, A,
Juneja, R,
Kabra, M,
Bagga, A,
Kalra, V
Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness
Park, H,
Shaukat, S,
Liu, X,
Hahn, S,
Naz, S,
Ghosh, M,
...
Recessive mutations of SLC26A4 (PDS) are a common cause of Pendred syndrome and non-syndromic deafness in western populations. Although south and east Asia contain nearly one half of the global...