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

Year Number of Results
1804 1
1807 1
1817 1
1902 1
1912 2
1913 1
1915 1
1920 1
1923 1
1924 1
1926 1
1927 1
1928 1
1931 1
1932 1
1933 5
1935 1
1937 1
1938 5
1939 2
1940 1
1941 1
1945 1
1946 1
1947 2
1948 3
1949 5
1950 6
1951 10
1952 4
1953 7
1954 3
1955 3
1956 8
1957 6
1958 5
1959 5
1960 5
1961 6
1962 8
1963 4
1964 8
1965 7
1966 5
1967 5
1968 11
1969 19
1970 17
1971 12
1972 23
1973 30
1974 28
1975 12
1976 12
1977 17
1978 21
1979 16
1980 25
1981 29
1982 26
1983 37
1984 38
1985 21
1986 31
1987 31
1988 44
1989 31
1990 51
1991 41
1992 39
1993 46
1994 54
1995 33
1996 41
1997 55
1998 49
1999 51
2000 56
2001 43
2002 52
2003 49
2004 69
2005 51
2006 45
2007 64
2008 66
2009 61
2010 64
2011 43
2012 40
2013 81
2014 65
2015 60
2016 79
2017 89
2018 84
2019 59
2020 87
2021 32
Text availability
Article attribute
Article type
Publication date

Search Results

2,355 results
Results by year
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Page 1
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T; DDD study, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM. Snijders Blok L, et al. Among authors: douglas j. Nat Commun. 2018 Nov 5;9(1):4619. doi: 10.1038/s41467-018-06014-6. Nat Commun. 2018. PMID: 30397230 Free PMC article.
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla ØL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C; Undiagnosed Diseases Network, Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogné B; GEM HUGO; Deciphering Developmental Disorders Study, Petrovski S, Retterer K, Eichler EE, Rosenfeld JA, Agrawal PB, Bézieau S, Odent S, Elgersma Y, Mercier S. Küry S, et al. Among authors: douglas j. Am J Hum Genet. 2017 Nov 2;101(5):768-788. doi: 10.1016/j.ajhg.2017.10.003. Am J Hum Genet. 2017. PMID: 29100089 Free PMC article.
Impact of Molecular Subtypes in Muscle-invasive Bladder Cancer on Predicting Response and Survival after Neoadjuvant Chemotherapy.
Seiler R, Ashab HAD, Erho N, van Rhijn BWG, Winters B, Douglas J, Van Kessel KE, Fransen van de Putte EE, Sommerlad M, Wang NQ, Choeurng V, Gibb EA, Palmer-Aronsten B, Lam LL, Buerki C, Davicioni E, Sjödahl G, Kardos J, Hoadley KA, Lerner SP, McConkey DJ, Choi W, Kim WY, Kiss B, Thalmann GN, Todenhöfer T, Crabb SJ, North S, Zwarthoff EC, Boormans JL, Wright J, Dall'Era M, van der Heijden MS, Black PC. Seiler R, et al. Among authors: douglas j. Eur Urol. 2017 Oct;72(4):544-554. doi: 10.1016/j.eururo.2017.03.030. Epub 2017 Apr 5. Eur Urol. 2017. PMID: 28390739
Molecular Characterization of Neuroendocrine-like Bladder Cancer.
Batista da Costa J, Gibb EA, Bivalacqua TJ, Liu Y, Oo HZ, Miyamoto DT, Alshalalfa M, Davicioni E, Wright J, Dall'Era MA, Douglas J, Boormans JL, Van der Heijden MS, Wu CL, van Rhijn BWG, Gupta S, Grivas P, Mouw KW, Murugan P, Fazli L, Ra S, Konety BR, Seiler R, Daneshmand S, Mian OY, Efstathiou JA, Lotan Y, Black PC. Batista da Costa J, et al. Among authors: douglas j. Clin Cancer Res. 2019 Jul 1;25(13):3908-3920. doi: 10.1158/1078-0432.CCR-18-3558. Epub 2019 Apr 5. Clin Cancer Res. 2019. PMID: 30952638 Free article.
Target oxygen saturation range: 92-96% Versus 94-98.
Beasley R, Chien J, Douglas J, Eastlake L, Farah C, King G, Moore R, Pilcher J, Richards M, Smith S, Walters H. Beasley R, et al. Among authors: douglas j. Respirology. 2017 Jan;22(1):200-202. doi: 10.1111/resp.12879. Epub 2016 Sep 1. Respirology. 2017. PMID: 27587269
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
Schanze I, Bunt J, Lim JWC, Schanze D, Dean RJ, Alders M, Blanchet P, Attié-Bitach T, Berland S, Boogert S, Boppudi S, Bridges CJ, Cho MT, Dobyns WB, Donnai D, Douglas J, Earl DL, Edwards TJ, Faivre L, Fregeau B, Genevieve D, Gérard M, Gatinois V, Holder-Espinasse M, Huth SF, Izumi K, Kerr B, Lacaze E, Lakeman P, Mahida S, Mirzaa GM, Morgan SM, Nowak C, Peeters H, Petit F, Pilz DT, Puechberty J, Reinstein E, Rivière JB, Santani AB, Schneider A, Sherr EH, Smith-Hicks C, Wieland I, Zackai E, Zhao X, Gronostajski RM, Zenker M, Richards LJ. Schanze I, et al. Among authors: douglas j. Am J Hum Genet. 2018 Nov 1;103(5):752-768. doi: 10.1016/j.ajhg.2018.10.006. Am J Hum Genet. 2018. PMID: 30388402 Free PMC article.
Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.
Gkourogianni A, Andrew M, Tyzinski L, Crocker M, Douglas J, Dunbar N, Fairchild J, Funari MF, Heath KE, Jorge AA, Kurtzman T, LaFranchi S, Lalani S, Lebl J, Lin Y, Los E, Newbern D, Nowak C, Olson M, Popovic J, Pruhová Š, Elblova L, Quintos JB, Segerlund E, Sentchordi L, Shinawi M, Stattin EL, Swartz J, Angel AG, Cuéllar SD, Hosono H, Sanchez-Lara PA, Hwa V, Baron J, Nilsson O, Dauber A. Gkourogianni A, et al. Among authors: douglas j. J Clin Endocrinol Metab. 2017 Feb 1;102(2):460-469. doi: 10.1210/jc.2016-3313. J Clin Endocrinol Metab. 2017. PMID: 27870580 Free PMC article.
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