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

Year Number of Results
1948 1
1950 1
1951 3
1953 3
1955 2
1956 2
1957 3
1959 4
1960 3
1961 2
1962 5
1963 2
1964 4
1965 2
1968 3
1969 5
1970 3
1971 2
1972 6
1973 5
1974 3
1975 1
1976 2
1977 1
1978 2
1979 3
1980 3
1981 14
1982 6
1983 5
1984 5
1985 5
1986 1
1987 3
1988 6
1989 2
1990 2
1991 1
1992 4
1993 3
1994 2
1995 7
1996 4
1997 2
1998 6
1999 2
2000 5
2001 1
2002 2
2003 1
2004 1
2006 2
2010 1
2011 1
2012 1
2015 2
2016 1
2017 4
2018 3
2019 6
2020 1
2021 0
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Article attribute
Article type
Publication date

Search Results

185 results
Results by year
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Page 1
Reanalysis of Clinical Exome Sequencing Data.
Liu P, Meng L, Normand EA, Xia F, Song X, Ghazi A, Rosenfeld J, Magoulas PL, Braxton A, Ward P, Dai H, Yuan B, Bi W, Xiao R, Wang X, Chiang T, Vetrini F, He W, Cheng H, Dong J, Gijavanekar C, Benke PJ, Bernstein JA, Eble T, Eroglu Y, Erwin D, Escobar L, Gibson JB, Gripp K, Kleppe S, Koenig MK, Lewis AM, Natowicz M, Mancias P, Minor L, Scaglia F, Schaaf CP, Streff H, Vernon H, Uhles CL, Zackai EH, Wu N, Sutton VR, Beaudet AL, Muzny D, Gibbs RA, Posey JE, Lalani S, Shaw C, Eng CM, Lupski JR, Yang Y. Liu P, et al. Among authors: gibson jb. N Engl J Med. 2019 Jun 20;380(25):2478-2480. doi: 10.1056/NEJMc1812033. N Engl J Med. 2019. PMID: 31216405 Free PMC article. No abstract available.
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. Vetrini F, et al. Among authors: gibson jb. Genome Med. 2019 Feb 28;11(1):12. doi: 10.1186/s13073-019-0623-0. Genome Med. 2019. PMID: 30819258 Free PMC article.
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
Miller MJ, Burrage LC, Gibson JB, Strenk ME, Lose EJ, Bick DP, Elsea SH, Sutton VR, Sun Q, Graham BH, Craigen WJ, Zhang VW, Wong LJ. Miller MJ, et al. Among authors: gibson jb. Mol Genet Metab. 2015 Nov;116(3):139-45. doi: 10.1016/j.ymgme.2015.08.011. Epub 2015 Sep 2. Mol Genet Metab. 2015. PMID: 26385305 Free PMC article.
Hyperammonemia From Ureaplasma Infection in an Immunocompromised Child.
Placone N, Kao RL, Kempert P, Ruiz ME, Casillas JN, Okada M, Gibson JB, Maggi C, O'Brien K, Nattiv R, Gallant NM, Abrams SH. Placone N, et al. Among authors: gibson jb. J Pediatr Hematol Oncol. 2020 Mar;42(2):e114-e116. doi: 10.1097/MPH.0000000000001414. J Pediatr Hematol Oncol. 2020. PMID: 30789458
Nonleaking cystoid macular edema in Cohen syndrome.
Beck KD, Wong RW, Gibson JB, Harper CA 3rd. Beck KD, et al. Among authors: gibson jb. J AAPOS. 2019 Feb;23(1):38-39.e1. doi: 10.1016/j.jaapos.2018.05.010. Epub 2018 Aug 23. J AAPOS. 2019. PMID: 30144585 Review.
EXTRAHEPATIC PORTAL-VENOUS OBSTRUCTION.
GIBSON JB, JOHNSTON GW, FULTON TT, RODGERS HW. GIBSON JB, et al. Br J Surg. 1965 Feb;52:129-39. doi: 10.1002/bjs.1800520211. Br J Surg. 1965. PMID: 14255983 No abstract available.
PATHOLOGICAL FINDINGS IN HOMOCYSTINURIA.
GIBSON JB, CARSON NA, NEILL DW. GIBSON JB, et al. J Clin Pathol. 1964 Jul;17(4):427-37. doi: 10.1136/jcp.17.4.427. J Clin Pathol. 1964. PMID: 14195630 Free PMC article.
Expanding the Molecular and Clinical Phenotype of SSR4-CDG.
Ng BG, Raymond K, Kircher M, Buckingham KJ, Wood T, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics, Wong JT, Monteiro FP, Graham BH, Jackson S, Sparkes R, Scheuerle AE, Cathey S, Kok F, Gibson JB, Freeze HH. Ng BG, et al. Among authors: gibson jb. Hum Mutat. 2015 Nov;36(11):1048-51. doi: 10.1002/humu.22856. Epub 2015 Aug 27. Hum Mutat. 2015. PMID: 26264460 Free PMC article.
185 results
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