Items where Author is "Radhakrishnan, Periyasamy"
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Upadhyai, Priyanka and Radhakrishnan, Periyasamy and Guleria, Vishal Singh and Kausthubham, Neethukrishna and Nayak, Shalini S and Girisha, KM (2021) Biallelic deep intronic variant c.5457+81t>a in trip11 causes loss of function and results in achondrogenesis 1a. Human Mutation, 42 (8). pp. 1005-1014. ISSN 1059-7794

Radhakrishnan, Periyasamy and Girisha, KM and Nayak, Shalini S and Shukla, Anju (2020) Mutations in mylpf cause a novel segmental amyoplasia that manifests as distal arthrogryposis. The American Journal of Human Genetics, 107. pp. 1-18. ISSN 0002-9297

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

Shukla, Anju and Radhakrishnan, Periyasamy and Girisha, KM (2019) The genomics of arthrogryposis, a complex trait: Candidate genes and further evidence for oligogenic inheritance. The American Journal of Human Genetics, 105. pp. 132-150. ISSN 0002-9297

Radhakrishnan, Periyasamy and Nayak, Shalini S and Shukla, Anju and Girisha, KM (2019) Meckel syndrome: Clinical and mutation profile in six fetuses. Clinical Genetics, 96. pp. 560-565. ISSN 0009-9163

This list was generated on Thu May 19 15:03:48 2022 UTC.