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Shubha R. Phadke

Department of Medical Genetics

Sanjay Gandhi Postgraduate Institute of Medical Sciences

Lucknow

Uttar Pradesh

India

[email]@sgpgi.ac.in

Name/email consistency: high

 
 
 
 
 
 
 

Affiliation

  • Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India. 1999 - 2011

References

  1. Report of two brothers with short stature, microcephaly, mental retardation, and retinoschisis-A new mental retardation syndrome? Phadke, S.R., Sharda, S., Urquhart, J., Jenkinson, E., Chawala, S., Trump, D. Am. J. Med. Genet. A (2011) [Pubmed]
  2. Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India. Phadke, S.R., Gupta, N., Girisha, K.M., Kabra, M., Maeda, M., Vidal, E., Moser, A., Steinberg, S., Puri, R.D., Verma, I.C., Braverman, N. J. Appl. Genet. (2010) [Pubmed]
  3. Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis. Phadke, S.R., Fischer, B., Gupta, N., Ranganath, P., Kabra, M., Kornak, U. Indian J. Med. Res. (2010) [Pubmed]
  4. Fabry disease: a treatable lysosomal storage disorder. Phadke, S.R., Mandal, K., Girisha, K.M. Natl. Med. J. India (2009) [Pubmed]
  5. Challenges in identifying genetic risk factors for common multifactorial disorders. Phadke, S.R. Indian J. Med. Res. (2008) [Pubmed]
  6. A report of a patient with interstitial deletion of 15q22: further delineation of a new micro deletion syndrome. Phadke, S.R., Sharda, S. Am. J. Med. Genet. A (2008) [Pubmed]
  7. Torg-Winchester syndrome: lack of efficacy of pamidronate therapy. Phadke, S.R., Ramirez, M., Difeo, A., Martignetti, J.A., Girisha, K.M. Clin. Dysmorphol. (2007) [Pubmed]
  8. Short stature, ulnar deviation of hands with absent carpals and joint contractures: a new syndrome. Phadke, S.R., Dalal, A. Clin. Dysmorphol. (2007) [Pubmed]
  9. A new autosomal recessive disorder of bilateral frontotemporal pachygyria without microcephaly: report of a case and review of literature. Phadke, S.R., Girisha, K.M., Phadke, R.V. Neurol. India (2007) [Pubmed]
  10. Spondylothoracic dysplasia: prenatal diagnosis and the problems of nosologic overlap. Phadke, S.R., Patil, S.J., Kumari, N., Krishnani, N. Am. J. Med. Genet. A (2007) [Pubmed]
  11. Further delineation of acro-renal-mandibular syndrome. Phadke, S.R., Manisha,  Clin. Dysmorphol. (2006) [Pubmed]
  12. Handless, footless fetus. Phadke, S.R., Girisha, K.M., Dalal, A. Clin. Dysmorphol. (2006) [Pubmed]
  13. Anotia and facial palsy: unusual features of cardiofacial syndrome. Girisha, K.M., Phadke, S.R. Indian. J. Pediatr (2005) [Pubmed]
  14. Genetic counseling. Phadke, S.R. Indian. J. Pediatr (2004) [Pubmed]
  15. Partial trisomy 13 with features similar to C syndrome. Phadke, S.R., Patil, S.J. Indian. Pediatr (2004) [Pubmed]
  16. Genetic counseling: the impact in Indian milieu. Phadke, S.R., Pandey, A., Puri, R.D., Patil, S.J. Indian. J. Pediatr (2004) [Pubmed]
  17. Phenotype score to grade the severity of thalassemia intermedia. Phadke, S.R., Agarwal, S. Indian. J. Pediatr (2003) [Pubmed]
  18. Adverse effects of genetic counselling on women carriers of disease: the Indian perspective. Phadke, S.R., Agarwal, S.S. Natl. Med. J. India (2001) [Pubmed]
  19. Complex camptopolydactyly: an unusual hand malformation. Phadke, S.R., Gautam, P. Am. J. Med. Genet. (1999) [Pubmed]
  20. Oral-facial-digital syndrome with acromelic short stature: a new variant--overlap with Ellis Van Creveld syndrome. Phadke, S.R., Pahi, J., Pandey, A., Agarwal, S.S. Clin. Dysmorphol. (1999) [Pubmed]
  21. Genetic counseling in pediatric practice. Phadke, S.R., Pandey, A. Indian. Pediatr (1999) [Pubmed]
 
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