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Genetic Insights from Consanguineous Cardiomyopathy Families.
Genes (Basel). 2023 Jan 10;14(1):182. doi: 10.3390/genes14010182.
Genes (Basel). 2023.
PMID: 36672924
Free PMC article.
Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.
Medico Salsench E, Maroofian R, Deng R, Lanko K, Nikoncuk A, Pérez B, Sánchez-Lijarcio O, Ibáñez-Mico S, Wojcik A, Vargas M, Abbas Al-Sannaa N, Girgis MY, Silveira TRD, Bauer P, Schroeder A, Fong CT, Begtrup A, Babaei M, Toosi MB, Ashrafzadeh F, Imannezhad S, Doosti M, Ahangari N, Najarzadeh Torbati P, Ghayoor Karimiani E, Murphy D, Cali E, Kaya IH, AlMuhaizea M, Colak D, Cardona-Londoño KJ, Arold ST, Houlden H, Bertoli-Avella A, Kaya N, Barakat TS.
Medico Salsench E, et al. Among authors: najarzadeh torbati p.
Brain. 2021 Nov 29;144(10):e85. doi: 10.1093/brain/awab297.
Brain. 2021.
PMID: 34373908
Free PMC article.
No abstract available.
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PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy.
Dafsari HS, Pemberton JG, Ferrer EA, Yammine T, Farra C, Mohammadi MH, Ghayoor Karimiani E, Hashemi N, Souaid M, Sabbagh S, Najarzadeh Torbati P, Khan S, Roze E, Moreno-De-Luca A, Bertoli-Avella AM, Houlden H, Balla T, Maroofian R.
Dafsari HS, et al. Among authors: najarzadeh torbati p.
Ann Clin Transl Neurol. 2022 Sep;9(9):1345-1358. doi: 10.1002/acn3.51634. Epub 2022 Jul 25.
Ann Clin Transl Neurol. 2022.
PMID: 35880319
Free PMC article.
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TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.
Musante L, Faletra F, Meier K, Tomoum H, Najarzadeh Torbati P, Blair E, North S, Gärtner J, Diegmann S, Beiraghi Toosi M, Ashrafzadeh F, Ghayoor Karimiani E, Murphy D, Murru FM, Zanus C, Magnolato A, La Bianca M, Feresin A, Girotto G, Gasparini P, Costa P, Carrozzi M.
Musante L, et al. Among authors: najarzadeh torbati p.
Am J Med Genet A. 2022 Sep;188(9):2652-2665. doi: 10.1002/ajmg.a.62852. Epub 2022 Jun 7.
Am J Med Genet A. 2022.
PMID: 35670379
Free PMC article.
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Limb-Girdle Muscular Dystrophy Type 2B (LGMD2B) caused by Pathogenic Splice and Missense Variants of DYSF Gene among Iranians with Muscular Dystrophy.
Arab F, Ahangari N, Malek H, Doosti M, Najarzadeh Torbati P, Ghayoor Karimiani E.
Arab F, et al. Among authors: najarzadeh torbati p.
Adv Biomed Res. 2023 Jun 28;12:150. doi: 10.4103/abr.abr_131_22. eCollection 2023.
Adv Biomed Res. 2023.
PMID: 37564451
Free PMC article.
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Chloride Channel Mutations Leading to Congenital Myotonia.
Nik A, Ahangari N, Najarzadeh Torbati P, Boostani R, Ghayoor Karimiani E.
Nik A, et al. Among authors: najarzadeh torbati p.
Cureus. 2022 Dec 17;14(12):e32649. doi: 10.7759/cureus.32649. eCollection 2022 Dec.
Cureus. 2022.
PMID: 36540316
Free PMC article.
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