Shubha R. Phadke
Department of Medical Genetics
Sanjay Gandhi Postgraduate Institute of Medical Sciences
Lucknow
Uttar Pradesh
India
Name/email consistency: high
- 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)
- 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)
- 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)
- Fabry disease: a treatable lysosomal storage disorder. Phadke, S.R., Mandal, K., Girisha, K.M. Natl. Med. J. India (2009)
- Challenges in identifying genetic risk factors for common multifactorial disorders. Phadke, S.R. Indian J. Med. Res. (2008)
- 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)
- 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)
- Short stature, ulnar deviation of hands with absent carpals and joint contractures: a new syndrome. Phadke, S.R., Dalal, A. Clin. Dysmorphol. (2007)
- 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)
- 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)
- Further delineation of acro-renal-mandibular syndrome. Phadke, S.R., Manisha, Clin. Dysmorphol. (2006)
- Handless, footless fetus. Phadke, S.R., Girisha, K.M., Dalal, A. Clin. Dysmorphol. (2006)
- Anotia and facial palsy: unusual features of cardiofacial syndrome. Girisha, K.M., Phadke, S.R. Indian. J. Pediatr (2005)
- Genetic counseling. Phadke, S.R. Indian. J. Pediatr (2004)
- Partial trisomy 13 with features similar to C syndrome. Phadke, S.R., Patil, S.J. Indian. Pediatr (2004)
- Genetic counseling: the impact in Indian milieu. Phadke, S.R., Pandey, A., Puri, R.D., Patil, S.J. Indian. J. Pediatr (2004)
- Phenotype score to grade the severity of thalassemia intermedia. Phadke, S.R., Agarwal, S. Indian. J. Pediatr (2003)
- Adverse effects of genetic counselling on women carriers of disease: the Indian perspective. Phadke, S.R., Agarwal, S.S. Natl. Med. J. India (2001)
- Complex camptopolydactyly: an unusual hand malformation. Phadke, S.R., Gautam, P. Am. J. Med. Genet. (1999)
- 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)
- Genetic counseling in pediatric practice. Phadke, S.R., Pandey, A. Indian. Pediatr (1999)