Items where Author is "Somashekar, Puneeth H"
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Number of items: 8.

Article

Somashekar, Puneeth H and Kaur, Parneet and Guleria, Vishal Singh and Rajagopal, KV and Girisha, KM and Stephen, Joshi and Upadhyai, Priyanka and Shukla, Anju (2021) Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia. Clinical Genetics, 99 (4). pp. 594-600. ISSN 0009-9163

Radhakrishnan, Periyasamy and Somashekar, Puneeth H and Katta, Girisha M (2020) Explanation for mild and severe osteogenesis imperfecta phenotypes due to splice variants at c.2029-1 in COL1A1. Gene Reports, 21. pp. 1-5. ISSN 2452-0144

Somashekar, Puneeth H and Upadhyai, Priyanka and Shukla, Anju and Katta, Girisha M (2020) Novel splice site and nonsense variants in INVS cause infantile nephronophthisis. Gene, 729. pp. 1-5. ISSN 0378-1119

Somashekar, Puneeth H and Upadhyai, Priyanka and Narayanan, Dhanya L and Katta, Girisha M and Shukla, Anju (2020) Phenotypic diversity and genetic complexity of PAX3-related Waardenburg syndrome. American Journal of Medical Genetics- Part A, 182. pp. 2951-2958. ISSN 1552-4825

Shukla, Anju and Girisha, KM and Somashekar, Puneeth H (2019) Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability,dysmorphic features, and behavioral abnormalities. American Journal of Medical Genetics Part - A, 179A. pp. 870-874. ISSN 1552-4833

Somashekar, Puneeth H and Girisha, KM and Lewis, Leslie and Shenoy, Shailaja and Shukla, Anju (2018) Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome. Clinical Genetics. pp. 1-5. ISSN 0009-9163

Somashekar, Puneeth H and Shukla, Anju and Girisha, KM (2017) Clinical variability in familial X-Linked ohdo syndrome–Maat-Kievit-Brunner type with MED12 mutation. Journal of Pediatric Genetics, 6 (3). pp. 198-203. ISSN 2146-4596

Ramanan, Harini and Thomas, Ann T and Kasturi, Amrita Rishi Harisha and Srinivasan, Mukund P and Jaiprakash, Chethan A and Syed, Safiulla B and Somashekar, Puneeth H and Mungli, Prakash and Nayak, Veena (2012) A comparative study between Yakshagana artists and healthy controls for antioxidant markers and liver function parameters. International Journal of Health Sciences and Research, 2 (1). pp. 50-56. ISSN 2249-9571

This list was generated on Tue Jan 18 08:35:21 2022 UTC.