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Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia.
Díaz-González F, Wadhwa S, Rodriguez-Zabala M, Kumar S, Aza-Carmona M, Sentchordi-Montané L, Alonso M, Ahmad I, Zahra S, Kumar D, Kushwah N, Shamim U, Sait H, Kapoor S, Roldán B, Nishimura G, Offiah AC, Faruq M, Heath KE. Díaz-González F, et al. Among authors: faruq m. J Med Genet. 2022 Jan;59(1):28-38. doi: 10.1136/jmedgenet-2020-107177. Epub 2020 Oct 26. J Med Genet. 2022. PMID: 33106379
Genotype-phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India.
Nashi S, Polavarapu K, Bardhan M, Anjanappa RM, Preethish-Kumar V, Vengalil S, Padmanabha H, Geetha TS, Prathyusha PV, Ramprasad V, Joshi A, Chawla T, Unnikrishnan G, Sharma P, Huddar A, Uppilli B, Thomas A, Baskar D, Mathew S, Menon D, Arunachal G, Faruq M, Thangaraj K, Nalini A. Nashi S, et al. Among authors: faruq m. Neurogenetics. 2023 Jan;24(1):43-53. doi: 10.1007/s10048-022-00707-3. Epub 2022 Dec 29. Neurogenetics. 2023. PMID: 36580222
Novel PANK2 Variant in Asian Indians with Atypical Pantothenate Kinase Associated Neurodegeneration.
Saini A, Holla VV, Kalikavil Puthanveedu D, Mehta S, Elavarasi A, Pillai KS, Mohapatra P, Kumari R, Bari S, Singh I, Cherian A, Krishnan S, Radhakrishnan DM, Agarwal A, Garg D, Garg K, Singh M, Garg A, Muthusamy B, Lal V, Kishore A, Pal PK, Srivastava A, Faruq M, Rajan R. Saini A, et al. Among authors: faruq m. Mov Disord. 2024 May;39(5):920-923. doi: 10.1002/mds.29737. Epub 2024 Mar 20. Mov Disord. 2024. PMID: 38506547 No abstract available.
167 results