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

Year Number of Results
1899 1
1901 1
1903 1
1905 1
1906 1
1915 1
1916 1
1918 1
1923 1
1928 1
1929 1
1930 1
1931 1
1932 1
1933 1
1941 1
1943 1
1948 2
1949 1
1967 1
1968 1
1969 2
1975 1
1976 1
1977 1
1979 2
1980 1
1981 1
1984 1
1985 3
1989 1
1990 1
1992 2
1993 1
1994 2
1995 5
1996 2
1997 4
1998 2
1999 2
2000 2
2001 3
2002 8
2003 19
2004 32
2005 28
2006 20
2007 31
2008 21
2009 19
2010 15
2011 10
2012 7
2013 5
2014 10
2015 33
2016 50
2017 42
2018 40
2019 21
2020 24
2021 18
2022 18
2023 23
2024 32
2025 11

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578 results

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Page 1
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study; Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH. O'Donnell-Luria AH, et al. Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9. Am J Hum Genet. 2019. PMID: 31079897 Free PMC article.
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Wright CF, Campbell P, Eberhardt RY, Aitken S, Perrett D, Brent S, Danecek P, Gardner EJ, Chundru VK, Lindsay SJ, Andrews K, Hampstead J, Kaplanis J, Samocha KE, Middleton A, Foreman J, Hobson RJ, Parker MJ, Martin HC, FitzPatrick DR, Hurles ME, Firth HV; DDD Study. Wright CF, et al. N Engl J Med. 2023 Apr 27;388(17):1559-1571. doi: 10.1056/NEJMoa2209046. Epub 2023 Apr 12. N Engl J Med. 2023. PMID: 37043637 Free PMC article.
Standards for the care of people with cystic fibrosis; establishing and maintaining health.
Southern KW, Addy C, Bell SC, Bevan A, Borawska U, Brown C, Burgel PR, Button B, Castellani C, Chansard A, Chilvers MA, Davies G, Davies JC, De Boeck K, Declercq D, Doumit M, Drevinek P, Fajac I, Gartner S, Georgiopoulos AM, Gursli S, Gramegna A, Hansen CM, Hug MJ, Lammertyn E, Landau EEC, Langley R, Mayer-Hamblett N, Middleton A, Middleton PG, Mielus M, Morrison L, Munck A, Plant B, Ploeger M, Bertrand DP, Pressler T, Quon BS, Radtke T, Saynor ZL, Shufer I, Smyth AR, Smith C, van Koningsbruggen-Rietschel S. Southern KW, et al. Among authors: bevan a. J Cyst Fibros. 2024 Jan;23(1):12-28. doi: 10.1016/j.jcf.2023.12.002. Epub 2023 Dec 21. J Cyst Fibros. 2024. PMID: 38129255 Free article. Review.
Evidence for the Higgs Boson Decay to a Z Boson and a Photon at the LHC.
Aad G, Abbott B, Abeling K, Abicht NJ, Abidi SH, Aboulhorma A, Abramowicz H, Abreu H, Abulaiti Y, Acharya BS, Adam Bourdarios C, Adamczyk L, Adamek L, Addepalli SV, Addison MJ, Adelman J, Adiguzel A, Adye T, Affolder AA, Afik Y, Agaras MN, Agarwala J, Aggarwal A, Agheorghiesei C, Ahmad A, Ahmadov F, Ahmed WS, Ahuja S, Ai X, Aielli G, Aikot A, Ait Tamlihat M, Aitbenchikh B, Aizenberg I, Akbiyik M, Åkesson TPA, Akimov AV, Akiyama D, Akolkar NN, Al Khoury K, Alberghi GL, Albert J, Albicocco P, Albouy GL, Alderweireldt S, Aleksa M, Aleksandrov IN, Alexa C, Alexopoulos T, Alfonsi F, Algren M, Alhroob M, Ali B, Ali HMJ, Ali S, Alibocus SW, Aliev M, Alimonti G, Alkakhi W, Allaire C, Allbrooke BMM, Allen JF, Allendes Flores CA, Allport PP, Aloisio A, Alonso F, Alpigiani C, Alvarez Estevez M, Alvarez Fernandez A, Alves Cardoso M, Alviggi MG, Aly M, Amaral Coutinho Y, Ambler A, Amelung C, Amerl M, Ames CG, Amidei D, Amor Dos Santos SP, Amos KR, Ananiev V, Anastopoulos C, Andeen T, Anders JK, Andrean SY, Andreazza A, Angelidakis S, Angerami A, Anisenkov AV, Annovi A, Antel C, Anthony MT, Antipov E, Antonelli M, Anulli F, Aoki M, Aoki T, Aparisi Pozo JA, Aparo MA, Aperio Bella L, Appelt C, Ap… See abstract for full author list ➔ Aad G, et al. Among authors: bevan aj. Phys Rev Lett. 2024 Jan 12;132(2):021803. doi: 10.1103/PhysRevLett.132.021803. Phys Rev Lett. 2024. PMID: 38277607 Free article.
Standards of care for CFTR variant-specific therapy (including modulators) for people with cystic fibrosis.
Southern KW, Castellani C, Lammertyn E, Smyth A, VanDevanter D, van Koningsbruggen-Rietschel S, Barben J, Bevan A, Brokaar E, Collins S, Connett GJ, Daniels TWV, Davies J, Declercq D, Gartner S, Gramegna A, Hamilton N, Hauser J, Kashirskaya N, Kessler L, Lowdon J, Makukh H, Martin C, Morrison L, Nazareth D, Noordhoek J, O'Neill C, Owen E, Oxley H, Raraigh KS, Raynal C, Robinson K, Roehmel J, Schwarz C, Sermet I, Shteinberg M, Sinha I, Takawira C, van Mourik P, Verkleij M, Waller MD, Duff A. Southern KW, et al. Among authors: bevan a. J Cyst Fibros. 2023 Jan;22(1):17-30. doi: 10.1016/j.jcf.2022.10.002. Epub 2022 Oct 28. J Cyst Fibros. 2023. PMID: 36916675 Free article.
Standards for the care of people with cystic fibrosis (CF); recognising and addressing CF health issues.
Burgel PR, Southern KW, Addy C, Battezzati A, Berry C, Bouchara JP, Brokaar E, Brown W, Azevedo P, Durieu I, Ekkelenkamp M, Finlayson F, Forton J, Gardecki J, Hodkova P, Hong G, Lowdon J, Madge S, Martin C, McKone E, Munck A, Ooi CY, Perrem L, Piper A, Prayle A, Ratjen F, Rosenfeld M, Sanders DB, Schwarz C, Taccetti G, Wainwright C, West NE, Wilschanski M, Bevan A, Castellani C, Drevinek P, Gartner S, Gramegna A, Lammertyn E, Landau EEC, Plant BJ, Smyth AR, van Koningsbruggen-Rietschel S, Middleton PG. Burgel PR, et al. Among authors: bevan a. J Cyst Fibros. 2024 Mar;23(2):187-202. doi: 10.1016/j.jcf.2024.01.005. Epub 2024 Jan 16. J Cyst Fibros. 2024. PMID: 38233247 Free article. Review.
Standards for the care of people with cystic fibrosis (CF); Planning for a longer life.
Gramegna A, Addy C, Allen L, Bakkeheim E, Brown C, Daniels T, Davies G, Davies JC, De Marie K, Downey D, Felton I, Hafkemeyer S, Hamouda S, Kendall V, Lindberg U, Macek M, Mayell S, Pearlsman O, Schechter MS, Salvatori L, Sands D, Schwarz C, Shteinberg M, Taylor J, Taylor-Cousar JL, Taylor-Robinson D, Watkins B, Verkleij M, Bevan A, Castellani C, Drevinek P, Gartner S, Lammertyn E, Landau EEC, Middleton PG, Plant BJ, Smyth AR, van Koningsbruggen-Rietschel S, Burgel PR, Southern KW. Gramegna A, et al. Among authors: bevan a. J Cyst Fibros. 2024 May;23(3):375-387. doi: 10.1016/j.jcf.2024.05.007. Epub 2024 May 24. J Cyst Fibros. 2024. PMID: 38789317 Free article. Review.
Simultaneous Unbinned Differential Cross-Section Measurement of Twenty-Four Z+jets Kinematic Observables with the ATLAS Detector.
Aad G, Aakvaag E, Abbott B, Abdelhameed S, Abeling K, Abicht NJ, Abidi SH, Aboelela M, Aboulhorma A, Abramowicz H, Abreu H, Abulaiti Y, Acharya BS, Ackermann A, Adam Bourdarios C, Adamczyk L, Addepalli SV, Addison MJ, Adelman J, Adiguzel A, Adye T, Affolder AA, Afik Y, Agaras MN, Agarwala J, Aggarwal A, Agheorghiesei C, Ahmadov F, Ahmed WS, Ahuja S, Ai X, Aielli G, Aikot A, Ait Tamlihat M, Aitbenchikh B, Akbiyik M, Åkesson TPA, Akimov AV, Akiyama D, Akolkar NN, Aktas S, Al Khoury K, Alberghi GL, Albert J, Albicocco P, Albouy GL, Alderweireldt S, Alegria ZL, Aleksa M, Aleksandrov IN, Alexa C, Alexopoulos T, Alfonsi F, Algren M, Alhroob M, Ali B, Ali HMJ, Ali S, Alibocus SW, Aliev M, Alimonti G, Alkakhi W, Allaire C, Allbrooke BMM, Allen JF, Allendes Flores CA, Allport PP, Aloisio A, Alonso F, Alpigiani C, Alsolami ZMK, Alvarez Estevez M, Alvarez Fernandez A, Alves Cardoso M, Alviggi MG, Aly M, Amaral Coutinho Y, Ambler A, Amelung C, Amerl M, Ames CG, Amidei D, Amirie KJ, Amor Dos Santos SP, Amos KR, An S, Ananiev V, Anastopoulos C, Andeen T, Anders JK, Anderson AC, Andrean SY, Andreazza A, Angelidakis S, Angerami A, Anisenkov AV, Annovi A, Antel C, Antipov E, Antonelli M, Anulli F,… See abstract for full author list ➔ Aad G, et al. Among authors: bevan aj. Phys Rev Lett. 2024 Dec 31;133(26):261803. doi: 10.1103/PhysRevLett.133.261803. Phys Rev Lett. 2024. PMID: 39878999 Free article.
578 results