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

Year Number of Results
1913 1
1924 1
1947 1
1948 1
1949 2
1950 1
1951 1
1953 2
1954 2
1957 1
1958 3
1959 1
1962 1
1963 1
1967 1
1968 5
1969 4
1971 1
1972 5
1973 3
1974 5
1975 7
1976 9
1977 7
1978 5
1979 3
1980 3
1981 3
1982 1
1983 2
1984 4
1985 6
1986 3
1987 7
1988 7
1989 5
1990 6
1991 7
1992 5
1993 5
1994 3
1996 4
1997 2
1998 4
1999 3
2000 1
2001 1
2002 1
2003 3
2004 1
2005 3
2006 1
2008 2
2009 6
2010 4
2011 4
2012 1
2013 5
2014 8
2015 11
2016 5
2017 9
2018 14
2019 14
2020 17
2021 11
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264 results
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Page 1
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Carpanelli ML, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D'Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, La Piana R, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Rodriguez D, Roubertie A, Salvatici E, Segers KA, Sinha GP, Soler D, Spiegel R, Stödberg TI, Straussberg R, Swoboda KJ, Suri M, Tacke U, Tan TY, te Water Naude J, Wee Teik K, Thomas MM, Till M, Tonduti D, Valente EM, Van Coster RN, van der Knaap MS, Vassallo G, Vijzelaar R, Vogt J, Wallace GB, Wassmer E, Webb HJ, Whitehouse WP, Whitney RN, Zaki MS, Zuberi SM, Livingston JH, Rozenberg F, Lebon P, Vanderver A, Orcesi S, Rice GI. Crow YJ, et al. Among authors: whitney rn. Am J Med Genet A. 2015 Feb;167A(2):296-312. doi: 10.1002/ajmg.a.36887. Epub 2015 Jan 16. Am J Med Genet A. 2015. PMID: 25604658 Free PMC article.
KCNT1-related epilepsy: An international multicenter cohort of 27 pediatric cases.
Borlot F, Abushama A, Morrison-Levy N, Jain P, Puthenveettil Vinayan K, Abukhalid M, Aldhalaan HM, Almuzaini HS, Gulati S, Hershkovitz T, Konanki R, Lingappa L, Luat AF, Shafi S, Tabarki B, Thomas M, Yoganathan S, Alfadhel M, Arya R, Donner EJ, Ehaideb SN, Gowda VK, Jain V, Madaan P, Myers KA, Otsubo H, Panda P, Sahu JK, Sampaio LPB, Sharma S, Simard-Tremblay E, Zak M, Whitney R. Borlot F, et al. Among authors: whitney r. Epilepsia. 2020 Apr;61(4):679-692. doi: 10.1111/epi.16480. Epub 2020 Mar 13. Epilepsia. 2020. PMID: 32167590
A prospective open-label trial of a CBD/THC cannabis oil in dravet syndrome.
McCoy B, Wang L, Zak M, Al-Mehmadi S, Kabir N, Alhadid K, McDonald K, Zhang G, Sharma R, Whitney R, Sinopoli K, Snead OC 3rd. McCoy B, et al. Among authors: whitney r. Ann Clin Transl Neurol. 2018 Aug 1;5(9):1077-1088. doi: 10.1002/acn3.621. eCollection 2018 Sep. Ann Clin Transl Neurol. 2018. PMID: 30250864 Free PMC article.
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.
Rice GI, Del Toro Duany Y, Jenkinson EM, Forte GM, Anderson BH, Ariaudo G, Bader-Meunier B, Baildam EM, Battini R, Beresford MW, Casarano M, Chouchane M, Cimaz R, Collins AE, Cordeiro NJ, Dale RC, Davidson JE, De Waele L, Desguerre I, Faivre L, Fazzi E, Isidor B, Lagae L, Latchman AR, Lebon P, Li C, Livingston JH, Lourenço CM, Mancardi MM, Masurel-Paulet A, McInnes IB, Menezes MP, Mignot C, O'Sullivan J, Orcesi S, Picco PP, Riva E, Robinson RA, Rodriguez D, Salvatici E, Scott C, Szybowska M, Tolmie JL, Vanderver A, Vanhulle C, Vieira JP, Webb K, Whitney RN, Williams SG, Wolfe LA, Zuberi SM, Hur S, Crow YJ. Rice GI, et al. Among authors: whitney rn. Nat Genet. 2014 May;46(5):503-509. doi: 10.1038/ng.2933. Epub 2014 Mar 30. Nat Genet. 2014. PMID: 24686847 Free PMC article.
Home Oxygen Therapy.
Fields BE, Whitney RL, Bell JF. Fields BE, et al. Among authors: whitney rl. Am J Nurs. 2020 Nov;120(11):51-57. doi: 10.1097/01.NAJ.0000721940.02042.99. Am J Nurs. 2020. PMID: 33105223
Nonequilibrium System as a Demon.
Sánchez R, Splettstoesser J, Whitney RS. Sánchez R, et al. Among authors: whitney rs. Phys Rev Lett. 2019 Nov 22;123(21):216801. doi: 10.1103/PhysRevLett.123.216801. Phys Rev Lett. 2019. PMID: 31809128
264 results
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