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Results by year

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

Year Number of Results
1945 2
1948 1
1949 1
1950 1
1951 1
1952 1
1958 2
1959 1
1961 1
1962 2
1963 2
1966 1
1967 1
1968 4
1970 5
1971 2
1972 4
1973 3
1974 2
1975 5
1976 6
1977 6
1978 11
1979 9
1980 7
1981 6
1982 9
1983 6
1984 13
1985 6
1986 17
1987 12
1988 9
1989 12
1990 10
1991 6
1992 8
1993 12
1994 4
1995 8
1996 5
1997 10
1998 10
1999 10
2000 11
2001 15
2002 11
2003 10
2004 10
2005 7
2006 19
2007 20
2008 18
2009 16
2010 20
2011 18
2012 33
2013 16
2014 18
2015 12
2016 20
2017 21
2018 25
2019 20
2020 20
2021 38
2022 31
2023 31
2024 11

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Article type

Publication date

Search Results

668 results

Results by year

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Page 1
Management of chemical burns.
Walsh K, Hughes I, Dheansa B. Walsh K, et al. Among authors: hughes i. Br J Hosp Med (Lond). 2022 Mar 2;83(3):1-12. doi: 10.12968/hmed.2020.0056. Epub 2022 Mar 4. Br J Hosp Med (Lond). 2022. PMID: 35377199 Free article. Review.
Androgen insensitivity syndrome.
Hughes IA, Davies JD, Bunch TI, Pasterski V, Mastroyannopoulou K, MacDougall J. Hughes IA, et al. Lancet. 2012 Oct 20;380(9851):1419-28. doi: 10.1016/S0140-6736(12)60071-3. Epub 2012 Jun 13. Lancet. 2012. PMID: 22698698 Free article. Review.
GDF15 linked to maternal risk of nausea and vomiting during pregnancy.
Fejzo M, Rocha N, Cimino I, Lockhart SM, Petry CJ, Kay RG, Burling K, Barker P, George AL, Yasara N, Premawardhena A, Gong S, Cook E, Rimmington D, Rainbow K, Withers DJ, Cortessis V, Mullin PM, MacGibbon KW, Jin E, Kam A, Campbell A, Polasek O, Tzoneva G, Gribble FM, Yeo GSH, Lam BYH, Saudek V, Hughes IA, Ong KK, Perry JRB, Sutton Cole A, Baumgarten M, Welsh P, Sattar N, Smith GCS, Charnock-Jones DS, Coll AP, Meek CL, Mettananda S, Hayward C, Mancuso N, O'Rahilly S. Fejzo M, et al. Among authors: hughes ia. Nature. 2024 Jan;625(7996):760-767. doi: 10.1038/s41586-023-06921-9. Epub 2023 Dec 13. Nature. 2024. PMID: 38092039 Free PMC article.
The Phenotypic Continuum of ATP1A3-Related Disorders.
Vezyroglou A, Akilapa R, Barwick K, Koene S, Brownstein CA, Holder-Espinasse M, Fry AE, Németh AH, Tofaris GK, Hay E, Hughes I, Mansour S, Mordekar SR, Splitt M, Turnpenny PD, Demetriou D, Koopmann TT, Ruivenkamp CAL, Agrawal PB, Carr L, Clowes V, Ghali N, Holder SE, Radley J, Male A, Sisodiya SM, Kurian MA, Cross JH, Balasubramanian M. Vezyroglou A, et al. Among authors: hughes i. Neurology. 2022 Oct 4;99(14):e1511-e1526. doi: 10.1212/WNL.0000000000200927. Epub 2022 Jul 18. Neurology. 2022. PMID: 36192182 Free PMC article. Review.
Consensus statement on management of intersex disorders.
Hughes IA, Houk C, Ahmed SF, Lee PA; LWPES Consensus Group; ESPE Consensus Group. Hughes IA, et al. Arch Dis Child. 2006 Jul;91(7):554-63. doi: 10.1136/adc.2006.098319. Epub 2006 Apr 19. Arch Dis Child. 2006. PMID: 16624884 Free PMC article.
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
Guglieri M, Bushby K, McDermott MP, Hart KA, Tawil R, Martens WB, Herr BE, McColl E, Speed C, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Willis T, Griggs RC; FOR-DMD Investigators of the Muscle Study Group; Straub V, van Ruiten H, Childs AM, Ciafaloni E, Shieh PB, Spinty S, Maggi L, Baranello G, Butterfield RJ, Horrocks IA, Roper H, Alhaswani Z, Flanigan KM, Kuntz NL, Manzur A, Darras BT, Kang PB, Morrison L, Krzesniak-Swinarska M, Mah JK, Mongini TE, Ricci F, von der Hagen M, Finkel RS, O'Reardon K, Wicklund M, Kumar A, McDonald CM, Han JJ, Joyce N, Henricson EK, Schara-Schmidt U, Gangfuss A, Wilichowski E, Barohn RJ, Statland JM, Campbell C, Vita G, Vita GL, Howard JF Jr, Hughes I, McMillan HJ, Pegoraro E, Bello L, Burnette WB, Thangarajh M, Chang T. Guglieri M, et al. Among authors: hughes i. JAMA. 2022 Apr 19;327(15):1456-1468. doi: 10.1001/jama.2022.4315. JAMA. 2022. PMID: 35381069 Free PMC article. Clinical Trial.
Consensus statement on management of intersex disorders. International Consensus Conference on Intersex.
Lee PA, Houk CP, Ahmed SF, Hughes IA; International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. Lee PA, et al. Among authors: hughes ia. Pediatrics. 2006 Aug;118(2):e488-500. doi: 10.1542/peds.2006-0738. Pediatrics. 2006. PMID: 16882788 No abstract available.
Intersex.
Hughes IA. Hughes IA. BJU Int. 2002 Nov;90(8):769-76. doi: 10.1046/j.1464-410x.2002.02920.x. BJU Int. 2002. PMID: 12406110 Review. No abstract available.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics; Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study; Hedrich UBS, Scheffer IE, Helbig I… See abstract for full author list ➔ Helbig KL, et al. Among authors: hughes i. Am J Hum Genet. 2018 Nov 1;103(5):666-678. doi: 10.1016/j.ajhg.2018.09.006. Epub 2018 Oct 18. Am J Hum Genet. 2018. PMID: 30343943 Free PMC article.
668 results