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

por Aggarwal, Shagun, Phadke, Shubha R
Publicado 2015

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

por Lallar, Meenakshi, Phadke, Shubha R
Publicado 2017

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

por Pathak, Ashutosh, Agarwal, Divya, Phadke, Shubha R
Publicado 2014

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

por Phadke, Shubha R., Puri, Ratna D., Ranganath, Prajnya
Publicado 2017

Haemophilia management programme: Transformation during COVID-19

por Sait, Haseena, Sajjan, Shruti M., Phadke, Shubha R.
Publicado 2022

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

por Kumar, Ashok, Agarwal, Sarita, Phadke, Shubha R., Pradhan, Sunil
Publicado 2014

Kallmann Syndrome and X-linked Ichthyosis Caused by Translocation Between Chromosomes X and Y: A Case Report

por Sait, Haseena, Srivastava, Priyanka, Dabadghao, Preeti, Phadke, Shubha R
Publicado 2021

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

por Verma, Prashant K., Dalal, Ashwin, Mittal, Balraj, Phadke, Shubha R.
Publicado 2012

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

por Nandagopalan, Rajashree S., Phadke, Shubha R., Dalal, Ashwin B., Ranganath, Prajnya
Publicado 2014

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

por Dalal, Ashwin, Bhowmik, Aneek D, Agarwal, Divya, Phadke, Shubha R.
Publicado 2015

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

por Siddesh, Anjurani, Gupta, Geetika, Sharan, Ram, Agarwal, Meenal, Phadke, Shubha R.
Publicado 2017

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

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

Aetiologic spectrum of mental retardation & developmental delay in India

por Aggarwal, Shagun, Bogula, Vijay Raju, Mandal, Kausik, Kumar, Rashmi, Phadke, Shubha R.
Publicado 2012

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

por Boggula, Vijay Raju, Agarwal, Meenal, Kumar, Rashmi, Awasthi, Shally, Phadke, Shubha R.
Publicado 2015

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...

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

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

por Sharma, Anjali, Poddar, Ujjal, Agnihotry, Shikha, Phadke, Shubha R., Yachha, Surender K., Aggarwal, Rakesh
Publicado 2018

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

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

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

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

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

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

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

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