Cytogenetic microarray in prenatal and postnatal diagnosis

by Phadke, Shubha
Published 2014

Neural tube defects: A need for population-based prevention program

by Phadke, Shubha, Agarwal, Meenal
Published 2012

Medical genetics and genomic medicine in India: current status and opportunities ahead

by Aggarwal, Shagun, Phadke, Shubha R
Published 2015

STR Markers in clinics: a rapid prenatal diagnosis by quantitative fluorescent-pcr for aneuploidies

by Agarwal, Sarita, Srinivasan, M, Phadke, Shubha
Published 2014

Microarray based global transcriptome profiling reveals involvement of non-Hsa21 genes and microRNAs in molecular mechanism of Down syndrome pathogenesis

by Pathak, Ashutosh, Agarwal, Divya, Phadke, Shubha R
Published 2014

Utility of MLPA in mutation analysis and carrier detection for Duchenne muscular dystrophy

by Verma, Prashant K., Dalal, Ashwin, Mittal, Balraj, Phadke, Shubha R.
Published 2012

Oxidant–antioxidant imbalance in the serum of Myotonic Dystrophy type 1 (DM1) patients correlates with the progression of disease

by Kumar, Ashok, Agarwal, Sarita, Pradhan, Sunil, Phadke, Shubha
Published 2014

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

by Dalal, Ashwin, Bhowmik, Aneek D, Agarwal, Divya, Phadke, Shubha R.
Published 2015

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

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

Application of a reliable and rapid polymerase chain reaction based method in the diagnosis of myotonic dystrophy type 1 (DM1) in India☆

by Kumar, Ashok, Agarwal, Sarita, Phadke, Shubha R., Pradhan, Sunil
Published 2014

Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridia

by Aggarwal, Shagun, Jinda, Worapoj, Limwongse, Chanin, Atchaneeyasakul, La-ongsri, Phadke, Shubha R.
Published 2011

Cytochrome P450 (CYP2C9*2,*3) & vitamin-K epoxide reductase complex (VKORC1 -1639G<A) gene polymorphisms & their effect on acenocoumarol dose in patients with mechanical heart valv...

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

Aetiologic spectrum of mental retardation & developmental delay in India

by Aggarwal, Shagun, Bogula, Vijay Raju, Mandal, Kausik, Kumar, Rashmi, Phadke, Shubha R.
Published 2012

Vascular endothelial growth factor gene polymorphisms and association with age related macular degeneration in Indian patients

by Gupta, Divya, Gupta, Vani, Singh, Vinita, Prakash, Swayam, Agrawal, Suraksha, Chawla, Shobhit, Phadke, Shubha R.
Published 2016

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

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

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

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

Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences

by Malik, Sajid, Girisha, KM, Wajid, Muhammad, Roy, Akhilesh K, Phadke, Shubha R, Haque, Sayedul, Ahmad, Wasim, Koch, Manuela C, Grzeschik, Karl-Heinz
Published 2007

Molecular analysis of mucopolysaccharidoses: identification and characterization of pathogenic mutations in Indian population

by Uttarilli, Anusha, Jain, S Jamal Md Nurul, Dalal, Ashwin B, Ranganath, Prajnya, Phadke, Shubha R, Kumar, Girisha, Sankar, Patil, SJ, Kabra, Madhulika, Danda, Sumita
Published 2014

Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI

by Uttarilli, Anusha, Ranganath, Prajnya, Jain, S. Jamal Md Nurul, Krishna, Prasad C., Sinha, Anupam, Verma, Ishwar C., Phadke, Shubha R., Puri, Ratna D., Danda, Sumita, Muranjan, Mamta N., Jevalikar, Ganesh, Nagarajaram, H. A., Dalal, Ashwin B.
Published 2015