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

Year Number of Results
1920 1
1957 6
1958 3
1959 4
1960 6
1961 1
1962 6
1963 6
1964 4
1965 4
1966 5
1967 5
1968 5
1969 2
1970 1
1973 1
1974 2
1975 1
1976 2
1977 2
1978 3
1979 1
1980 1
1982 1
1985 1
1997 1
2005 1
2006 1
2007 1
2012 1
2014 2
2015 1
2017 5
2018 5
2019 3
2020 5
2021 2
2022 4
2023 2
2024 3

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109 results

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Page 1
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Stephenson SEM, Costain G, Blok LER, Silk MA, Nguyen TB, Dong X, Alhuzaimi DE, Dowling JJ, Walker S, Amburgey K, Hayeems RZ, Rodan LH, Schwartz MA, Picker J, Lynch SA, Gupta A, Rasmussen KJ, Schimmenti LA, Klee EW, Niu Z, Agre KE, Chilton I, Chung WK, Revah-Politi A, Au PYB, Griffith C, Racobaldo M, Raas-Rothschild A, Ben Zeev B, Barel O, Moutton S, Morice-Picard F, Carmignac V, Cornaton J, Marle N, Devinsky O, Stimach C, Wechsler SB, Hainline BE, Sapp K, Willems M, Bruel AL, Dias KR, Evans CA, Roscioli T, Sachdev R, Temple SEL, Zhu Y, Baker JJ, Scheffer IE, Gardiner FJ, Schneider AL, Muir AM, Mefford HC, Crunk A, Heise EM, Millan F, Monaghan KG, Person R, Rhodes L, Richards S, Wentzensen IM, Cogné B, Isidor B, Nizon M, Vincent M, Besnard T, Piton A, Marcelis C, Kato K, Koyama N, Ogi T, Goh ES, Richmond C, Amor DJ, Boyce JO, Morgan AT, Hildebrand MS, Kaspi A, Bahlo M, Friðriksdóttir R, Katrínardóttir H, Sulem P, Stefánsson K, Björnsson HT, Mandelstam S, Morleo M, Mariani M; TUDP Study Group; Scala M, Accogli A, Torella A, Capra V, Wallis M, Jansen S, Weisfisz Q, de Haan H, Sadedin S; Broad Center for Mendelian Genomics; Lim SC, White SM, Ascher DB, Schenck A, Lockhart PJ, C… See abstract for full author list ➔ Stephenson SEM, et al. Am J Hum Genet. 2022 Apr 7;109(4):601-617. doi: 10.1016/j.ajhg.2022.03.002. Am J Hum Genet. 2022. PMID: 35395208 Free PMC article.
P-WAVE SYNCHRONY.
STEPHENSON SE Jr, BROCKMAN SK. STEPHENSON SE Jr, et al. Ann N Y Acad Sci. 1964 Jun 11;111:907-14. doi: 10.1111/j.1749-6632.1964.tb53160.x. Ann N Y Acad Sci. 1964. PMID: 14206812 No abstract available.
The Nurses' Co-Operation.
Murray ME, Stephenson SE, Bremner G, Elliott ME. Murray ME, et al. Among authors: stephenson se. Hospital (Lond 1886). 1920 Dec 4;69(1800):228. Hospital (Lond 1886). 1920. PMID: 29834059 Free PMC article. No abstract available.
Complications of colostomy.
Saha SP, Rao N, Stephenson SE Jr. Saha SP, et al. Among authors: stephenson se jr. Dis Colon Rectum. 1973 Nov-Dec;16(6):515-6. doi: 10.1007/BF02588880. Dis Colon Rectum. 1973. PMID: 4769228 No abstract available.
Pathogenic Variants in GPC4 Cause Keipert Syndrome.
Amor DJ, Stephenson SEM, Mustapha M, Mensah MA, Ockeloen CW, Lee WS, Tankard RM, Phelan DG, Shinawi M, de Brouwer APM, Pfundt R, Dowling C, Toler TL, Sutton VR, Agolini E, Rinelli M, Capolino R, Martinelli D, Zampino G, Dumić M, Reardon W, Shaw-Smith C, Leventer RJ, Delatycki MB, Kleefstra T, Mundlos S, Mortier G, Bahlo M, Allen NJ, Lockhart PJ. Amor DJ, et al. Among authors: stephenson sem. Am J Hum Genet. 2019 May 2;104(5):914-924. doi: 10.1016/j.ajhg.2019.02.026. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982611 Free PMC article.
Genetic characterization identifies bottom-of-sulcus dysplasia as an mTORopathy.
Lee WS, Stephenson SEM, Pope K, Gillies G, Maixner W, Macdonald-Laurs E, MacGregor D, D'Arcy C, Jackson G, Harvey AS, Leventer RJ, Lockhart PJ. Lee WS, et al. Among authors: stephenson sem. Neurology. 2020 Nov 3;95(18):e2542-e2551. doi: 10.1212/WNL.0000000000010670. Epub 2020 Aug 26. Neurology. 2020. PMID: 32847954
109 results