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Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1963 6
1964 1
1965 2
1967 1
1968 2
1970 1
1971 2
1972 2
1973 6
1974 2
1975 3
1976 1
1977 2
1978 2
1979 2
1980 3
1981 2
1982 4
1983 2
1984 2
1985 8
1986 4
1987 6
1988 5
1989 3
1990 6
1991 1
1992 4
1993 15
1994 9
1995 10
1996 8
1997 3
1998 9
1999 5
2000 13
2001 11
2002 18
2003 19
2004 15
2005 17
2006 34
2007 22
2008 24
2009 21
2010 26
2011 35
2012 37
2013 50
2014 55
2015 37
2016 38
2017 50
2018 43
2019 63
2020 81
2021 81
2022 74
2023 18
Text availability
Article attribute
Article type
Publication date

Search Results

932 results
Results by year
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Page 1
Global view of human protein glycosylation pathways and functions.
Schjoldager KT, Narimatsu Y, Joshi HJ, Clausen H. Schjoldager KT, et al. Among authors: joshi hj. Nat Rev Mol Cell Biol. 2020 Dec;21(12):729-749. doi: 10.1038/s41580-020-00294-x. Epub 2020 Oct 21. Nat Rev Mol Cell Biol. 2020. PMID: 33087899 Review.
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O'Donnell-Luria AH, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A; Genotype-Tissue Expression Consortium; Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bönnemann CG, MacArthur DG. Cummings BB, et al. Among authors: joshi h. Sci Transl Med. 2017 Apr 19;9(386):eaal5209. doi: 10.1126/scitranslmed.aal5209. Sci Transl Med. 2017. PMID: 28424332 Free PMC article.
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG. Oates EC, et al. Among authors: joshi h. Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. Ann Neurol. 2018. PMID: 29691892 Free PMC article.
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Bournazos AM, Riley LG, Bommireddipalli S, Ades L, Akesson LS, Al-Shinnag M, Alexander SI, Archibald AD, Balasubramaniam S, Berman Y, Beshay V, Boggs K, Bojadzieva J, Brown NJ, Bryen SJ, Buckley MF, Chong B, Davis MR, Dawes R, Delatycki M, Donaldson L, Downie L, Edwards C, Edwards M, Engel A, Ewans LJ, Faiz F, Fennell A, Field M, Freckmann ML, Gallacher L, Gear R, Goel H, Goh S, Goodwin L, Hanna B, Harraway J, Higgins M, Ho G, Hopper BK, Horton AE, Hunter MF, Huq AJ, Josephi-Taylor S, Joshi H, Kirk E, Krzesinski E, Kumar KR, Lemckert F, Leventer RJ, Lindsey-Temple SE, Lunke S, Ma A, Macaskill S, Mallawaarachchi A, Marty M, Marum JE, McCarthy HJ, Menezes MP, McLean A, Milnes D, Mohammad S, Mowat D, Niaz A, Palmer EE, Patel C, Patel SG, Phelan D, Pinner JR, Rajagopalan S, Regan M, Rodgers J, Rodrigues M, Roxburgh RH, Sachdev R, Roscioli T, Samarasekera R, Sandaradura SA, Savva E, Schindler T, Shah M, Sinnerbrink IB, Smith JM, Smith RJ, Springer A, Stark Z, Strom SP, Sue CM, Tan K, Tan TY, Tantsis E, Tchan MC, Thompson BA, Trainer AH, van Spaendonck-Zwarts K, Walsh R, Warwick L, White S, White SM, Williams MG, Wilson MJ, Wong WK, Wright DC, Yap P, Yeung A, Young H, Jones KJ, B… See abstract for full author list ➔ Bournazos AM, et al. Among authors: joshi h. Genet Med. 2022 Jan;24(1):130-145. doi: 10.1016/j.gim.2021.09.001. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906502 Free article.
Novel mechanism of action for the mood stabilizer lithium.
Abu-Hijleh FA, Prashar S, Joshi H, Sharma R, Frey BN, Mishra RK. Abu-Hijleh FA, et al. Among authors: joshi h. Bipolar Disord. 2021 Feb;23(1):76-83. doi: 10.1111/bdi.13019. Epub 2020 Oct 27. Bipolar Disord. 2021. PMID: 33037686
Editorial Comment.
Joshi HB. Joshi HB. J Urol. 2023 Jan;209(1):69. doi: 10.1097/JU.0000000000003032.01. Epub 2022 Oct 28. J Urol. 2023. PMID: 36305191 No abstract available.
Harlequin Syndrome.
Joshi H, Packiasabapathy S. Joshi H, et al. 2023 Feb 7. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan–. 2023 Feb 7. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan–. PMID: 35593814 Free Books & Documents.
Nanotechnology-based cosmeceuticals.
Lohani A, Verma A, Joshi H, Yadav N, Karki N. Lohani A, et al. Among authors: joshi h. ISRN Dermatol. 2014 May 22;2014:843687. doi: 10.1155/2014/843687. eCollection 2014. ISRN Dermatol. 2014. PMID: 24963412 Free PMC article. Review.
Tight foreskin.
Raja A, Perry I, Joshi HB. Raja A, et al. Among authors: joshi hb. BMJ. 2016 Oct 5;355:i4639. doi: 10.1136/bmj.i4639. BMJ. 2016. PMID: 27707732 No abstract available.
932 results