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Filters applied: . Clear all The following term was not found in PubMed: maitixirepu
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Showing results for maitixirepu jalili
Search for Maitixirepu Jilili instead (1 results)
How Machine Learning Will Transform Biomedicine.
Goecks J, Jalili V, Heiser LM, Gray JW. Goecks J, et al. Cell. 2020 Apr 2;181(1):92-101. doi: 10.1016/j.cell.2020.03.022. Cell. 2020. PMID: 32243801 Free PMC article. Review.
Features, genetics and their correlation in Jalili syndrome: a systematic review.
Daneshmandpour Y, Darvish H, Pashazadeh F, Emamalizadeh B. Daneshmandpour Y, et al. J Med Genet. 2019 Jun;56(6):358-369. doi: 10.1136/jmedgenet-2018-105716. Epub 2019 Jan 31. J Med Genet. 2019. PMID: 30705057
Jalili syndrome is a rare genetic disorder first identified by Jalili in Gaza. ...Jalili syndrome has been observed in many countries around the world, especially in the Middle East and North Africa. ...
Jalili syndrome is a rare genetic disorder first identified by Jalili in Gaza. ...Jalili syndrome has been observed in
Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort.
Prasov L, Ullah E, Turriff AE, Warner BM, Conley J, Mark PR, Hufnagel RB, Huryn LA. Prasov L, et al. Am J Med Genet A. 2020 Mar;182(3):493-497. doi: 10.1002/ajmg.a.61484. Epub 2020 Feb 5. Am J Med Genet A. 2020. PMID: 32022389 Free PMC article.
Jalili syndrome is a rare multisystem disorder with the most prominent features consisting of cone-rod dystrophy and amelogenesis imperfecta. Few cases have been reported in the Americas. Here we describe a case series of patients with Jalili syndrome examined at th
Jalili syndrome is a rare multisystem disorder with the most prominent features consisting of cone-rod dystrophy and amelogenesis imp
A new species of Pherbellia (Diptera: Sciomyzidae) from Iran.
Kazerani F, Mortelmans J, Farashiani ME, Thorn S. Kazerani F, et al. Zootaxa. 2020 May 8;4772(2):zootaxa.4772.2.7. doi: 10.11646/zootaxa.4772.2.7. Zootaxa. 2020. PMID: 33055617
Pherbellia jalili Mortelmans Kazerani sp. nov. is described based on 5 males and 4 females. ...The key to species of this group of Pherbellia is updated including the Japanese Pherbellia tricolor Sueyoshi, 2001. Barcodes are generated for P. jalili sp. nov., P. annu …
Pherbellia jalili Mortelmans Kazerani sp. nov. is described based on 5 males and 4 females. ...The key to species of this group of Ph …
Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1.
Li S, Xi Q, Zhang X, Yu D, Li L, Jiang Z, Chen Q, Wang QK, Traboulsi EI. Li S, et al. Mol Genet Genomics. 2018 Jun;293(3):699-710. doi: 10.1007/s00438-018-1417-6. Epub 2018 Jan 10. Mol Genet Genomics. 2018. PMID: 29322253 Free PMC article.
Another assessment was made after the discovery of the responsible gene and the dental abnormalities characteristic of Jalili syndrome were retrospectively identified. The p.R605X mutation represents the first probable founder mutation of Jalili syndrome identified …
Another assessment was made after the discovery of the responsible gene and the dental abnormalities characteristic of Jalili syndrom …
Co-occurrence of Jalili syndrome and muscular overgrowth.
Wawrocka A, Walczak-Sztulpa J, Badura-Stronka M, Owecki M, Kopczynski P, Mrukwa-Kominek E, Skorczyk-Werner A, Gasperowicz P, Ploski R, Krawczynski MR. Wawrocka A, et al. Am J Med Genet A. 2017 Aug;173(8):2280-2283. doi: 10.1002/ajmg.a.38318. Epub 2017 Jun 6. Am J Med Genet A. 2017. PMID: 28586144
It is caused by mutations in CNNM4, which encodes the ancient conserved domain protein 4. Here we report three brothers with Jalili syndrome and muscle overgrowth of the legs. Myopathic changes were found in needle electromyography. ...These analyses did not identify any a …
It is caused by mutations in CNNM4, which encodes the ancient conserved domain protein 4. Here we report three brothers with Jalili s …
857 results
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