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Results by year

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

Year Number of Results
1965 1
1967 1
1968 2
1975 1
1979 1
1981 3
1982 4
1983 1
1984 1
1985 1
1987 1
1988 2
1989 2
1990 4
1991 5
1992 5
1993 4
1994 8
1995 5
1996 10
1997 5
1998 4
1999 6
2000 8
2001 6
2002 5
2003 3
2004 8
2005 1
2006 8
2007 9
2008 5
2009 6
2010 8
2011 10
2012 7
2013 14
2014 17
2015 19
2016 18
2017 15
2018 21
2019 15
2020 14
2021 21
2022 14
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Publication date

Search Results

294 results
Results by year
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Page 1
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: phadke r. Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. Ann Neurol. 2018. PMID: 29691892 Free PMC article.
Acute skeletal muscle wasting in critical illness.
Puthucheary ZA, Rawal J, McPhail M, Connolly B, Ratnayake G, Chan P, Hopkinson NS, Phadke R, Dew T, Sidhu PS, Velloso C, Seymour J, Agley CC, Selby A, Limb M, Edwards LM, Smith K, Rowlerson A, Rennie MJ, Moxham J, Harridge SD, Hart N, Montgomery HE. Puthucheary ZA, et al. Among authors: phadke r. JAMA. 2013 Oct 16;310(15):1591-600. doi: 10.1001/jama.2013.278481. JAMA. 2013. PMID: 24108501
Making sense of missense variants in TTN-related congenital myopathies.
Rees M, Nikoopour R, Fukuzawa A, Kho AL, Fernandez-Garcia MA, Wraige E, Bodi I, Deshpande C, Özdemir Ö, Daimagüler HS, Pfuhl M, Holt M, Brandmeier B, Grover S, Fluss J, Longman C, Farrugia ME, Matthews E, Hanna M, Muntoni F, Sarkozy A, Phadke R, Quinlivan R, Oates EC, Schröder R, Thiel C, Reimann J, Voermans N, Erasmus C, Kamsteeg EJ, Konersman C, Grosmann C, McKee S, Tirupathi S, Moore SA, Wilichowski E, Hobbiebrunken E, Dekomien G, Richard I, Van den Bergh P, Domínguez-González C, Cirak S, Ferreiro A, Jungbluth H, Gautel M. Rees M, et al. Among authors: phadke r. Acta Neuropathol. 2021 Mar;141(3):431-453. doi: 10.1007/s00401-020-02257-0. Epub 2021 Jan 15. Acta Neuropathol. 2021. PMID: 33449170 Free PMC article.
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Kim HJ, Mohassel P, Donkervoort S, Guo L, O'Donovan K, Coughlin M, Lornage X, Foulds N, Hammans SR, Foley AR, Fare CM, Ford AF, Ogasawara M, Sato A, Iida A, Munot P, Ambegaonkar G, Phadke R, O'Donovan DG, Buchert R, Grimmel M, Töpf A, Zaharieva IT, Brady L, Hu Y, Lloyd TE, Klein A, Steinlin M, Kuster A, Mercier S, Marcorelles P, Péréon Y, Fleurence E, Manzur A, Ennis S, Upstill-Goddard R, Bello L, Bertolin C, Pegoraro E, Salviati L, French CE, Shatillo A, Raymond FL, Haack TB, Quijano-Roy S, Böhm J, Nelson I, Stojkovic T, Evangelista T, Straub V, Romero NB, Laporte J, Muntoni F, Nishino I, Tarnopolsky MA, Shorter J, Bönnemann CG, Taylor JP. Kim HJ, et al. Among authors: phadke r. Nat Commun. 2022 Apr 28;13(1):2306. doi: 10.1038/s41467-022-30015-1. Nat Commun. 2022. PMID: 35484142 Free PMC article.
Eco-friendly vaccination: Tackling an unforeseen adverse effect.
Phadke R, Dos Santos Costa AC, Dapke K, Ghosh S, Ahmad S, Tsagkaris C, Raiya S, Maheswari MS, Essar MY, Ahmad S. Phadke R, et al. J Clim Chang Health. 2021 Mar;1:100005. doi: 10.1016/j.joclim.2021.100005. Epub 2021 Mar 19. J Clim Chang Health. 2021. PMID: 34235499 Free PMC article.
Endovascular biopsy in Takayasu arteritis.
Singh V, Naik S, Robert J, Phadke RV, Agarwal V, Bhoi SK. Singh V, et al. Among authors: phadke rv. Eur J Rheumatol. 2018 Dec 18;6(3):155-157. doi: 10.5152/eurjrheum.2018.18057. Print 2019 Jul. Eur J Rheumatol. 2018. PMID: 31364983 Free PMC article.
294 results