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Joshi Stephen
Joshi Stephen
Genetics
Biology
Gene
Endocrinology
Joubert syndrome
2
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38
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CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency
2017
American Journal of Medical Genetics Part A
Thierry Vilboux
May Christine V. Malicdan
Joseph C. Roney
Andrew R. Cullinane
Joshi Stephen
Deniz Yildirimli
Joy Bryant
Roxanne Fischer
Meghana Vemulapalli
James C. Mullikin
Peter Steinbach
William A Gahl
Meral Gunay-Aygun
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Citations (17)
Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta.
2014
American Journal of Medical Genetics Part A
Joshi Stephen
Anju Shukla
Ashwin Dalal
Katta M. Girisha
Hitesh Shah
Neerja Gupta
Madhulika Kabra
Preeti Dabadghao
Shubha R. Phadke
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Citations (21)
1