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Results by year

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

Year Number of Results
1974 2
1976 1
1979 2
1980 2
1981 3
1982 4
1983 6
1984 3
1985 3
1986 3
1987 4
1988 3
1989 1
1990 7
1991 8
1992 8
1993 3
1994 2
1995 4
1996 2
1997 5
1998 11
1999 12
2000 9
2001 7
2002 10
2003 6
2004 8
2005 10
2006 3
2007 3
2008 9
2009 4
2010 4
2011 10
2012 10
2013 7
2014 6
2015 6
2016 4
2017 5
2018 7
2019 3
2020 3
2021 2
2022 2
2023 0

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Publication date

Search Results

226 results

Results by year

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Page 1
Kabuki syndrome: international consensus diagnostic criteria.
Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N; Kabuki Syndrome Medical Advisory Board. Adam MP, et al. Among authors: chudley ae. J Med Genet. 2019 Feb;56(2):89-95. doi: 10.1136/jmedgenet-2018-105625. Epub 2018 Dec 4. J Med Genet. 2019. PMID: 30514738
Fragile X syndrome.
Chudley AE, Hagerman RJ. Chudley AE, et al. J Pediatr. 1987 Jun;110(6):821-31. doi: 10.1016/s0022-3476(87)80392-x. J Pediatr. 1987. PMID: 3295158 Review. No abstract available.
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF; UK10K Consortium; University of Washington Center for Mendelian Genomics; Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA. Wheway G, et al. Among authors: chudley ae. Nat Cell Biol. 2015 Aug;17(8):1074-1087. doi: 10.1038/ncb3201. Epub 2015 Jul 13. Nat Cell Biol. 2015. PMID: 26167768 Free PMC article.
The hemoglobinopathies and malaria.
Richer J, Chudley AE. Richer J, et al. Among authors: chudley ae. Clin Genet. 2005 Oct;68(4):332-6. doi: 10.1111/j.1399-0004.2005.00503.x. Clin Genet. 2005. PMID: 16143020 Review.
Orthopaedic Aspects of SAMS Syndrome.
Schrander DE, Staal HM, Johnson CA, Calder A, Ghali N, Chudley AE, Stumpel CTRM. Schrander DE, et al. Among authors: chudley ae. J Pediatr Genet. 2020 Jul 29;11(1):51-58. doi: 10.1055/s-0040-1714700. eCollection 2022 Mar. J Pediatr Genet. 2020. PMID: 35186391 Free PMC article.
UBE2A-related X-linked intellectual disability.
Stevenson RE, Chudley AE, Srivastava AK, Rodriguez J, Friez MJ, Schwartz CE. Stevenson RE, et al. Among authors: chudley ae. Clin Dysmorphol. 2019 Jan;28(1):1-6. doi: 10.1097/MCD.0000000000000242. Clin Dysmorphol. 2019. PMID: 30179896 Free PMC article.
Fetal alcohol spectrum disorder: a guideline for diagnosis across the lifespan.
Cook JL, Green CR, Lilley CM, Anderson SM, Baldwin ME, Chudley AE, Conry JL, LeBlanc N, Loock CA, Lutke J, Mallon BF, McFarlane AA, Temple VK, Rosales T; Canada Fetal Alcohol Spectrum Disorder Research Network. Cook JL, et al. Among authors: chudley ae. CMAJ. 2016 Feb 16;188(3):191-197. doi: 10.1503/cmaj.141593. Epub 2015 Dec 14. CMAJ. 2016. PMID: 26668194 Free PMC article. Review. No abstract available.
Split hand foot malformation (SHFM).
Elliott AM, Evans JA, Chudley AE. Elliott AM, et al. Among authors: chudley ae. Clin Genet. 2005 Dec;68(6):501-5. doi: 10.1111/j.1399-0004.2005.00530.x. Clin Genet. 2005. PMID: 16283879 Review.
226 results