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Showing results for janice mcnair
Search for Janise McNair instead (1 results)
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing.
Murdock DR, Dai H, Burrage LC, Rosenfeld JA, Ketkar S, Müller MF, Yépez VA, Gagneur J, Liu P, Chen S, Jain M, Zapata G, Bacino CA, Chao HT, Moretti P, Craigen WJ, Hanchard NA; Undiagnosed Diseases Network; Lee B. Murdock DR, et al. J Clin Invest. 2021 Jan 4;131(1):e141500. doi: 10.1172/JCI141500. J Clin Invest. 2021. PMID: 33001864 Free PMC article. Clinical Trial.
Cleidocranial Dysplasia Spectrum Disorder.
Machol K, Mendoza-Londono R, Lee B. Machol K, et al. 2006 Jan 3 [updated 2023 Apr 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2006 Jan 3 [updated 2023 Apr 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301686 Free Books & Documents. Review.
Multiplex Hextuple Luciferase Assaying.
Sarrion-Perdigones A, Gonzalez Y, Chang L, Gallego-Flores T, Young DW, Venken KJT. Sarrion-Perdigones A, et al. Methods Mol Biol. 2022;2524:433-456. doi: 10.1007/978-1-0716-2453-1_33. Methods Mol Biol. 2022. PMID: 35821491 Free PMC article.
GlyNAC (Glycine and N-Acetylcysteine) Supplementation in Old Mice Improves Brain Glutathione Deficiency, Oxidative Stress, Glucose Uptake, Mitochondrial Dysfunction, Genomic Damage, Inflammation and Neurotrophic Factors to Reverse Age-Associated Cognitive Decline: Implications for Improving Brain Health in Aging.
Kumar P, Osahon OW, Sekhar RV. Kumar P, et al. Antioxidants (Basel). 2023 May 4;12(5):1042. doi: 10.3390/antiox12051042. Antioxidants (Basel). 2023. PMID: 37237908 Free PMC article.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denommé-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H; Undiagnosed Diseases Network; Bacino CA, Lee BH, Chao HT. Paul MS, et al. Am J Hum Genet. 2024 Jan 4;111(1):96-118. doi: 10.1016/j.ajhg.2023.12.004. Am J Hum Genet. 2024. PMID: 38181735
National Brain Tumour Registry of China (NBTRC) statistical report of primary brain tumours diagnosed in China in years 2019-2020.
Xiao D, Yan C, Li D, Xi T, Liu X, Zhu D, Huang G, Xu J, He Z, Wu A, Ma C, Long J, Shu K, Ji H, Wang N, Chen G, Yang J, Ma H, Li Z, Sun X, Qu Y, Liu Z, Jiang X, Tian C, Ni S, Zhan R, Chen L, Ge M, Wang M, Jiang X, Guo G, Han Z, Zhang C, Zhang T, Dou C, Chu L, Wang P, Shao J, Wu X, Yu J, Wang Y, Wu N, Zhang R, Zhang M, Hong Y, Gao J, Li Y, Pan Y, Zhao B, Ji N, Shan G, Patel CB, Jia W, Zhang L. Xiao D, et al. Lancet Reg Health West Pac. 2023 Feb 21;34:100715. doi: 10.1016/j.lanwpc.2023.100715. eCollection 2023 May. Lancet Reg Health West Pac. 2023. PMID: 37283963 Free PMC article.
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, Novelli A, Blümlein U, Haack TB, Heinritz W, Matzker E, Alhaddad B, Abou Jamra R, Bartolomaeus T, AlHamdan S, Carapito R, Isidor B, Bahram S, Ritter A, Izumi K, Shakked BP, Barel O, Ben Zeev B, Begtrup A, Carere DA, Mullegama SV, Palculict TB, Calame DG, Schwan K, Aycinena ARP, Traberg R; Genomics England Research Consortium; Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, Agrawal PB. Paul MS, et al. Am J Hum Genet. 2023 Jan 5;110(1):120-145. doi: 10.1016/j.ajhg.2022.11.011. Epub 2022 Dec 16. Am J Hum Genet. 2023. PMID: 36528028 Free PMC article.
47 results