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Office
1364 Clifton Rd NE
Atlanta, GA 30322Phone+1 404-778-5405
Education & Training
Philadelphia College of Osteopathic MedicineClass of 2019
Certifications & Licensure
VA State License 2021 - 2026
PA State License 2019 - 2020
Publications & Presentations
PubMed
- 27 citationsMutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.Joshi Stephen, Thierry Vilboux, Luhe Mian, Chulaluck Kuptanon, Courtney M. Sinclair
Human Genetics. 2017-02-20 - 43 citationsMutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromesMay Christine V. Malicdan, Thierry Vilboux, Joshi Stephen, Dino Maglic, Luhe Mian
Journal of Medical Genetics. 2015-12-01
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