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

Year Number of Results
1965 1
1966 2
1967 1
1968 3
1970 1
1975 1
1977 2
1978 1
1981 1
1982 2
1983 1
1984 4
1985 3
1986 2
1987 13
1988 9
1989 5
1990 7
1991 2
1992 15
1993 10
1994 9
1995 4
1996 7
1997 3
1998 2
1999 7
2000 5
2001 5
2002 8
2003 4
2004 11
2005 15
2006 5
2007 4
2008 7
2009 17
2010 18
2011 14
2012 15
2013 24
2014 41
2015 65
2016 64
2017 54
2018 56
2019 17
2020 28
2021 28
2022 26
2023 24
2024 5

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630 results

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Page 1
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Calame DG, Guo T, Wang C, Garrett L, Jolly A, Dawood M, Kurolap A, Henig NZ, Fatih JM, Herman I, Du H, Mitani T, Becker L, Rathkolb B, Gerlini R, Seisenberger C, Marschall S, Hunter JV, Gerard A, Heidlebaugh A, Challman T, Spillmann RC, Jhangiani SN, Coban-Akdemir Z, Lalani S, Liu L, Revah-Politi A, Iglesias A, Guzman E, Baugh E, Boddaert N, Rondeau S, Ormieres C, Barcia G, Tan QKG, Thiffault I, Pastinen T, Sheikh K, Biliciler S, Mei D, Melani F, Shashi V, Yaron Y, Steele M, Wakeling E, Østergaard E, Nazaryan-Petersen L; Undiagnosed Diseases Network; Millan F, Santiago-Sim T, Thevenon J, Bruel AL, Thauvin-Robinet C, Popp D, Platzer K, Gawlinski P, Wiszniewski W, Marafi D, Pehlivan D, Posey JE, Gibbs RA, Gailus-Durner V, Guerrini R, Fuchs H, Hrabě de Angelis M, Hölter SM, Cheung HH, Gu S, Lupski JR. Calame DG, et al. Among authors: mitani t. Am J Hum Genet. 2023 Aug 3;110(8):1394-1413. doi: 10.1016/j.ajhg.2023.06.013. Epub 2023 Jul 18. Am J Hum Genet. 2023. PMID: 37467750 Free PMC article.
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Mitani T, Isikay S, Gezdirici A, Gulec EY, Punetha J, Fatih JM, Herman I, Akay G, Du H, Calame DG, Ayaz A, Tos T, Yesil G, Aydin H, Geckinli B, Elcioglu N, Candan S, Sezer O, Erdem HB, Gul D, Demiral E, Elmas M, Yesilbas O, Kilic B, Gungor S, Ceylan AC, Bozdogan S, Ozalp O, Cicek S, Aslan H, Yalcintepe S, Topcu V, Bayram Y, Grochowski CM, Jolly A, Dawood M, Duan R, Jhangiani SN, Doddapaneni H, Hu J, Muzny DM; Baylor-Hopkins Center for Mendelian Genomics; Marafi D, Akdemir ZC, Karaca E, Carvalho CMB, Gibbs RA, Posey JE, Lupski JR, Pehlivan D. Mitani T, et al. Am J Hum Genet. 2021 Oct 7;108(10):1981-2005. doi: 10.1016/j.ajhg.2021.08.009. Epub 2021 Sep 28. Am J Hum Genet. 2021. PMID: 34582790 Free PMC article.
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Kaiyrzhanov R, Rad A, Lin SJ, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, Efthymiou S, Karimiani EG, Hempel M, Normand EA, Rudnik-Schöneborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JR, Ganieva M, Fowler B, Aanicai R, Tayfun GA, Al Saman A, Alswaid A, Amiri N, Asilova N, Shotelersuk V, Yeetong P, Azam M, Babaei M, Monajemi GB, Mohammadi P, Samie S, Banu SH, Pinto Basto J, Kortüm F, Bauer M, Bauer P, Beetz C, Garshasbi M, Issa AH, Eyaid W, Ahmed H, Hashemi N, Hassanpour K, Herman I, Ibrohimov S, Abdul-Majeed BA, Imdad M, Isrofilov M, Kaiyal Q, Khan S, Kirmse B, Koster J, Lourenço CM, Mitani T, Moldovan O, Murphy D, Najafi M, Pehlivan D, Rocha ME, Salpietro V, Schmidts M, Shalata A, Mahroum M, Talbeya JK, Taylor RW, Vazquez D, Vetro A, Waterham HR, Zaman M, Schrader TA, Chung WK, Guerrini R, Lupski JR, Gleeson J, Suri M, Jamshidi Y, Bhatia KP, Vona B, Schrader M, Severino M, Guille M, Tate EW, Varshney GK, Houlden H, Maroofian R. Kaiyrzhanov R, et al. Among authors: mitani t. Brain. 2024 Apr 4;147(4):1436-1456. doi: 10.1093/brain/awad380. Brain. 2024. PMID: 37951597 Free PMC article.
Observation of Single-Top-Quark Production in Association with a Photon Using the ATLAS Detector.
Aad G, Abbott B, Abbott DC, Abeling K, Abidi SH, Aboulhorma A, Abramowicz H, Abreu H, Abulaiti Y, Abusleme Hoffman AC, Acharya BS, Achkar B, Adam L, Adam Bourdarios C, Adamczyk L, Adamek L, Addepalli SV, Adelman J, Adiguzel A, Adorni S, Adye T, Affolder AA, Afik Y, Agaras MN, Agarwala J, Aggarwal A, Agheorghiesei C, Aguilar-Saavedra JA, Ahmad A, Ahmadov F, Ahmed WS, Ahuja S, Ai X, Aielli G, Aizenberg I, Akbiyik M, Åkesson TPA, Akimov AV, Al Khoury K, Alberghi GL, Albert J, Albicocco P, Alconada Verzini MJ, Alderweireldt S, Aleksa M, Aleksandrov IN, Alexa C, Alexopoulos T, Alfonsi A, Alfonsi F, Alhroob M, Ali B, Ali S, Aliev M, Alimonti G, Allaire C, Allbrooke BMM, Allport PP, Aloisio A, Alonso F, Alpigiani C, Alunno Camelia E, Alvarez Estevez M, Alviggi MG, Amaral Coutinho Y, Ambler A, Amelung C, Ames CG, Amidei D, Amor Dos Santos SP, Amoroso S, Amos KR, Amrouche CS, Ananiev V, Anastopoulos C, Andari N, Andeen T, Anders JK, Andrean SY, Andreazza A, Angelidakis S, Angerami A, Anisenkov AV, Annovi A, Antel C, Anthony MT, Antipov E, Antonelli M, Antrim DJA, Anulli F, Aoki M, Aparisi Pozo JA, Aparo MA, Aperio Bella L, Appelt C, Aranzabal N, Araujo Ferraz V, Arcangeletti C, Arce ATH, A… See abstract for full author list ➔ Aad G, et al. Among authors: mitani t. Phys Rev Lett. 2023 Nov 3;131(18):181901. doi: 10.1103/PhysRevLett.131.181901. Phys Rev Lett. 2023. PMID: 37977601 Free article.
Observation of WWW Production in pp Collisions at sqrt[s]=13  TeV with the ATLAS Detector.
Aad G, Abbott B, Abbott DC, Abed Abud A, Abeling K, Abhayasinghe DK, Abidi SH, Aboulhorma A, Abramowicz H, Abreu H, Abulaiti Y, Abusleme Hoffman AC, Acharya BS, Achkar B, Adam L, Adam Bourdarios C, Adamczyk L, Adamek L, Addepalli SV, Adelman J, Adiguzel A, Adorni S, Adye T, Affolder AA, Afik Y, Agapopoulou C, Agaras MN, Agarwala J, Aggarwal A, Agheorghiesei C, Aguilar-Saavedra JA, Ahmad A, Ahmadov F, Ahmed WS, Ai X, Aielli G, Aizenberg I, Akbiyik M, Åkesson TPA, Akimov AV, Al Khoury K, Alberghi GL, Albert J, Albicocco P, Alconada Verzini MJ, Alderweireldt S, Aleksa M, Aleksandrov IN, Alexa C, Alexopoulos T, Alfonsi A, Alfonsi F, Alhroob M, Ali B, Ali S, Aliev M, Alimonti G, Allaire C, Allbrooke BMM, Allport PP, Aloisio A, Alonso F, Alpigiani C, Alunno Camelia E, Alvarez Estevez M, Alviggi MG, Amaral Coutinho Y, Ambler A, Ambroz L, Amelung C, Amidei D, Amor Dos Santos SP, Amoroso S, Amos KR, Amrouche CS, Ananiev V, Anastopoulos C, Andari N, Andeen T, Anders JK, Andrean SY, Andreazza A, Angelidakis S, Angerami A, Anisenkov AV, Annovi A, Antel C, Anthony MT, Antipov E, Antonelli M, Antrim DJA, Anulli F, Aoki M, Aparisi Pozo JA, Aparo MA, Aperio Bella L, Aranzabal N, Araujo Ferraz V, … See abstract for full author list ➔ Aad G, et al. Among authors: mitani t. Phys Rev Lett. 2022 Aug 5;129(6):061803. doi: 10.1103/PhysRevLett.129.061803. Phys Rev Lett. 2022. PMID: 36018638 Free article.
Observation of an Excess of Dicharmonium Events in the Four-Muon Final State with the ATLAS Detector.
Aad G, Abbott B, Abeling K, Abicht NJ, Abidi SH, Aboulhorma A, Abramowicz H, Abreu H, Abulaiti Y, Abusleme Hoffman AC, 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, 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 A, 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, 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, Antrim DJA, Anulli F, Aoki M, Aoki T, Aparisi Pozo JA, Aparo MA, Aperio Bel… See abstract for full author list ➔ Aad G, et al. Among authors: mitani t. Phys Rev Lett. 2023 Oct 13;131(15):151902. doi: 10.1103/PhysRevLett.131.151902. Phys Rev Lett. 2023. PMID: 37897770 Free article.
Collaborative Research Activities of the Arase and Van Allen Probes.
Miyoshi Y, Shinohara I, Ukhorskiy S, Claudepierre SG, Mitani T, Takashima T, Hori T, Santolik O, Kolmasova I, Matsuda S, Kasahara Y, Teramoto M, Katoh Y, Hikishima M, Kojima H, Kurita S, Imajo S, Higashio N, Kasahara S, Yokota S, Asamura K, Kazama Y, Wang SY, Jun CW, Kasaba Y, Kumamoto A, Tsuchiya F, Shoji M, Nakamura S, Kitahara M, Matsuoka A, Shiokawa K, Seki K, Nosé M, Takahashi K, Martinez-Calderon C, Hospodarsky G, Colpitts C, Kletzing C, Wygant J, Spence H, Baker DN, Reeves GD, Blake JB, Lanzerotti L. Miyoshi Y, et al. Among authors: mitani t. Space Sci Rev. 2022;218(5):38. doi: 10.1007/s11214-022-00885-4. Epub 2022 Jun 21. Space Sci Rev. 2022. PMID: 35757012 Free PMC article. Review.
Cryopreservation of Marchantia polymorpha spermatozoa.
Togawa T, Adachi T, Harada D, Mitani T, Tanaka D, Ishizaki K, Kohchi T, Yamato KT. Togawa T, et al. Among authors: mitani t. J Plant Res. 2018 Nov;131(6):1047-1054. doi: 10.1007/s10265-018-1059-0. Epub 2018 Jul 31. J Plant Res. 2018. PMID: 30066035
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.
Saida K, Maroofian R, Sengoku T, Mitani T, Pagnamenta AT, Marafi D, Zaki MS, O'Brien TJ, Karimiani EG, Kaiyrzhanov R, Takizawa M, Ohori S, Leong HY, Akay G, Galehdari H, Zamani M, Romy R, Carroll CJ, Toosi MB, Ashrafzadeh F, Imannezhad S, Malek H, Ahangari N, Tomoum H, Gowda VK, Srinivasan VM, Murphy D, Dominik N, Elbendary HM, Rafat K, Yilmaz S, Kanmaz S, Serin M, Krishnakumar D, Gardham A, Maw A, Rao TS, Alsubhi S, Srour M, Buhas D, Jewett T, Goldberg RE, Shamseldin H, Frengen E, Misceo D, Strømme P, Magliocco Ceroni JR, Kim CA, Yesil G, Sengenc E, Guler S, Hull M, Parnes M, Aktas D, Anlar B, Bayram Y, Pehlivan D, Posey JE, Alavi S, Madani Manshadi SA, Alzaidan H, Al-Owain M, Alabdi L, Abdulwahab F, Sekiguchi F, Hamanaka K, Fujita A, Uchiyama Y, Mizuguchi T, Miyatake S, Miyake N, Elshafie RM, Salayev K, Guliyeva U, Alkuraya FS, Gleeson JG, Monaghan KG, Langley KG, Yang H, Motavaf M, Safari S, Alipour M, Ogata K, Brown AEX, Lupski JR, Houlden H, Matsumoto N. Saida K, et al. Among authors: mitani t. Genet Med. 2023 Jan;25(1):90-102. doi: 10.1016/j.gim.2022.09.010. Epub 2022 Oct 31. Genet Med. 2023. PMID: 36318270 Free article.
Observation of WZγ Production in pp Collisions at sqrt[s]=13  TeV with the ATLAS Detector.
Aad G, Abbott B, Abeling K, Abicht NJ, Abidi SH, Aboulhorma A, Abramowicz H, Abreu H, Abulaiti Y, Abusleme Hoffman AC, 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, 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 A, 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, Antrim DJA, Anulli F, Aoki M, Aoki T, Aparisi Pozo JA, Apa… See abstract for full author list ➔ Aad G, et al. Among authors: mitani t. Phys Rev Lett. 2024 Jan 12;132(2):021802. doi: 10.1103/PhysRevLett.132.021802. Phys Rev Lett. 2024. PMID: 38277610 Free article.
630 results