Fetal intra abdominal umbilical vein varix: Case series and review of literature

by Meenakshi Lallar, Shubha R Phadke
Published 2017-01-01

A novel heterozygous missense mutation in uromodulin gene in an Indian family with familial juvenile hyperuricemic nephropathy

by D Saxena, P Srivastava, S R Phadke
Published 2016-01-01

Prenatal screening for genetic disorders: Suggested guidelines for the Indian Scenario

by Shubha R Phadke, Ratna D Puri, Prajnya Ranganath
Published 2017-01-01

Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family

by Ashwin Dalal, Aneek Das Bhowmik, Divya Agarwal, Shubha R Phadke
Published 2015-01-01

Novel mutations in PRG4 gene in two Indian families with camptodactyly-arthropathy- coxa vara- pericarditis (CACP) syndrome

by Rajashree S Nandagopalan, Shubha R Phadke, Ashwin B Dalal, Prajnya Ranganath
Published 2014-01-01

Spectrum of prenatally detected central nervous system malformations: Neural tube defects continue to be the leading foetal malformation

by Anjurani Siddesh, Geetika Gupta, Ram Sharan, Meenal Agarwal, Shubha R Phadke
Published 2017-01-01

Utility and limitations of multiplex ligation-dependent probe amplification technique in the detection of cytogenetic abnormalities in products of conception

by D Saxena, M Agarwal, D Gupta, S Agrawal, V Das, S R Phadke
Published 2016-01-01

Recurrent benign copy number variants & issues in interpretation of variants of unknown significance identified by cytogenetic microarray in Indian patients with intellectual disab...

by Vijay Raju Boggula, Meenal Agarwal, Rashmi Kumar, Shally Awasthi, Shubha R Phadke
Published 2015-01-01

Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis

by Anjali Sharma, Ujjal Poddar, Shikha Agnihotry, Shubha R. Phadke, Surender K. Yachha, Rakesh Aggarwal
Published 2018-07-01

Cytochrome P450 (CYP2C9FNx012,FNx013) & vitamin-K epoxide reductase complex (VKORC1 -1639G < A) gene polymorphisms & their effect on acenocoumarol dose in patients with mechanical...

by Anupriya Kaur, Farah Khan, Suraksha S Agrawal, Aditya Kapoor, Surendra K Agarwal, Shubha R Phadke
Published 2013-01-01

Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: A study in 203 Indian patients

by Vijay R Boggula, Anju Shukla, Sumita Danda, Sankar V Hariharan, Sheela Nampoothiri, Rashmi Kumar, Shubha R Phadke
Published 2014-01-01

Use of endothelial function, strain, strain rate and tissue velocity imaging for early detection of cardiovascular involvement in patients with beta thalassemia

by A. Gupta, A. Kapoor, S.R. Phadke, K. Mandal, R. Khanna, S. Kumar, N. Garg, S. Tewari, P.K. Goel
Published 2015-12-01

Sialidosis type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patients

by Veronica Arora, Nitika Setia, Ashwin Dalal, Maria Celestina Vanaja, Deepti Gupta, Tinku Razdan, Shubha R. Phadke, Renu Saxena, Anshu Rohtagi, Ishwar C. Verma, Ratna Dua Puri
Published 2020-03-01