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

بواسطة Aggarwal, Shagun, Phadke, Shubha R
الحاوية / القاعدة Mol Genet Genomic Med (2015)

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

بواسطة Lallar, Meenakshi, Phadke, Shubha R
الحاوية / القاعدة Indian J Radiol Imaging (2017)

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

بواسطة Pathak, Ashutosh, Agarwal, Divya, Phadke, Shubha R
منشور في 2014

A Mutagenic Primer Assay for Genotyping of the CRHR1 Gene Rare Variant rs1876828 (A/G) in Asians: A Cost‐Effective SNP Typing

بواسطة Sharma, Neeraj, Awasthi, Shally, Phadke, Shubha R
الحاوية / القاعدة J Clin Lab Anal (2014)

Homozygous Missense Variation in PNPLA8 Causes Prenatal-Onset Severe Neurodegeneration

بواسطة Masih, Suzena, Moirangthem, Amita, Phadke, Shubha R.
الحاوية / القاعدة Mol Syndromol (2021)

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

بواسطة Phadke, Shubha R., Puri, Ratna D., Ranganath, Prajnya
الحاوية / القاعدة Indian J Med Res (2017)

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

بواسطة Kumar, Ashok, Agarwal, Sarita, Phadke, Shubha R., Pradhan, Sunil
الحاوية / القاعدة Meta Gene (2014)

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

بواسطة Verma, Prashant K., Dalal, Ashwin, Mittal, Balraj, Phadke, Shubha R.
منشور في 2012

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

بواسطة Nandagopalan, Rajashree S., Phadke, Shubha R., Dalal, Ashwin B., Ranganath, Prajnya
منشور في 2014

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

بواسطة Dalal, Ashwin, Bhowmik, Aneek D, Agarwal, Divya, Phadke, Shubha R.
الحاوية / القاعدة Indian J Med Res (2015)

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

بواسطة Siddesh, Anjurani, Gupta, Geetika, Sharan, Ram, Agarwal, Meenal, Phadke, Shubha R.
الحاوية / القاعدة Indian J Med Res (2017)

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

بواسطة Aggarwal, Shagun, Jinda, Worapoj, Limwongse, Chanin, Atchaneeyasakul, La-ongsri, Phadke, Shubha R.
منشور في 2011

Aetiologic spectrum of mental retardation & developmental delay in India

بواسطة Aggarwal, Shagun, Bogula, Vijay Raju, Mandal, Kausik, Kumar, Rashmi, Phadke, Shubha R.
منشور في 2012

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

بواسطة Boggula, Vijay Raju, Agarwal, Meenal, Kumar, Rashmi, Awasthi, Shally, Phadke, Shubha R.
الحاوية / القاعدة Indian J Med Res (2015)

Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity

بواسطة Ahmad, Zahid, Phadke, Shubha R, Arch, Ellen, Glass, Jonathan, Agarwal, Anil K., Garg, Abhimanyu
منشور في 2010

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...

بواسطة Kaur, Anupriya, Khan, Farah, Agrawal, Suraksha S., Kapoor, Aditya, Agarwal, Surendra K., Phadke, Shubha R.
منشور في 2013

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

بواسطة Sharma, Anjali, Poddar, Ujjal, Agnihotry, Shikha, Phadke, Shubha R., Yachha, Surender K., Aggarwal, Rakesh
الحاوية / القاعدة BMC Gastroenterol (2018)

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

بواسطة Gupta, Divya, Gupta, Vani, Singh, Vinita, Prakash, Swayam, Agrawal, Suraksha, Chawla, Shobhit, Phadke, Shubha R.
الحاوية / القاعدة Meta Gene (2016)

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

بواسطة Boggula, Vijay R., Shukla, Anju, Danda, Sumita, Hariharan, Sankar V., Nampoothiri, Sheela, Kumar, Rashmi, Phadke, Shubha R.
منشور في 2014

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

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