Rare manifestation of multiple endocrine neoplasia type 2A & cutaneous lichen amyloidosis in a family with RET gene mutation

by Shweta Birla, Rajiv Singla, Arundhati Sharma, Nikhil Tandon
Published 2014-01-01

A Unique Presentation of Anti-RNA Polymerase III Positive Systemic Sclerosis Sine Scleroderma

by Cody M. Lee, Diana Girnita, Arundhati Sharma, Surabhi Khanna, Jean M. Elwing
Published 2016-01-01

Delayed onset of congenital hereditary endothelial dystrophy due to compound heterozygous SLC4A11 mutations

by Babu Lal Kumawat, Ranjan Gupta, Arundhati Sharma, Seema Sen, Shikha Gupta, Radhika Tandon
Published 2016-01-01

Molecular genetic analysis of CYP21A2 gene in patients with congenital adrenal hyperplasia

by Eunice Marumudi, Arundhati Sharma, Bindu Kulshreshtha, Rajesh Khadgawat, Madan L Khurana, Ariachery C Ammini
Published 2012-01-01

Genetic characterization of growth hormone 1 gene in patients with isolated growth hormone deficiency

by Shweta Birla, Viveka P Jyotsna, Arundhati Sharma, Rajesh Khadgawat, M K Garg, Vandana Jain
Published 2012-01-01

Molecular characterization of a rare phenotype of X-linked retinoschisis with angle-closure glaucoma

by Harathy Selvan, Anshul Sharma, Shweta Birla, Shikha Gupta, Bindu I Somarajan, Viney Gupta, Arundhati Sharma
Published 2019-01-01

Clinical profile and inheritance pattern of CYP21A2 gene mutations in patients with classical congenital adrenal hyperplasia from 10 families

by Sarita Yadav, Shweta Birla, Eunice Marumudi, Arundhati Sharma, Rajesh Khadgawat, M L Khurana, A C Ammini
Published 2015-01-01

Exome sequencing identifies procollagen-lysine 2-oxoglutarate 5-dioxygenase 2 mutations in primary congenital and juvenile glaucoma

by Viney Gupta, Bindu I Somarajan, Gagandeep Kaur, Shikha Gupta, Renu Singh, Dibyabhaba Pradhan, Harpreet Singh, Punit Kaur, Anshul Sharma, Bindia Chawla, Anisha Pahuja, Rajesh Ramachandran, Arundhati Sharma
Published 2021-01-01