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

Year Number of Results
1985 2
1986 1
1990 1
1991 1
1994 1
1996 1
1999 4
2000 3
2002 4
2003 1
2008 1
2009 2
2010 1
2011 2
2012 1
2013 1
2014 6
2015 2
2016 1
2017 1
2018 3
2019 4
2020 3
2021 3
2022 5
2023 3

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PubMed for id: 816183

53 results

Results by year

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Page 1
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Maroofian R, Kaiyrzhanov R, Cali E, Zamani M, Zaki MS, Ferla M, Tortora D, Sadeghian S, Saadi SM, Abdullah U, Karimiani EG, Efthymiou S, Yeşil G, Alavi S, Al Shamsi AM, Tajsharghi H, Abdel-Hamid MS, Saadi NW, Al Mutairi F, Alabdi L, Beetz C, Ali Z, Toosi MB, Rudnik-Schöneborn S, Babaei M, Isohanni P, Muhammad J, Khan S, Al Shalan M, Hickey SE, Marom D, Elhanan E, Kurian MA, Marafi D, Saberi A, Hamid M, Spaull R, Meng L, Lalani S, Maqbool S, Rahman F, Seeger J, Palculict TB, Lau T, Murphy D, Mencacci NE, Steindl K, Begemann A, Rauch A, Akbas S, Aslanger AD, Salpietro V, Yousaf H, Ben-Shachar S, Ejeskär K, Al Aqeel AI, High FA, Armstrong-Javors AE, Zahraei SM, Seifi T, Zeighami J, Shariati G, Sedaghat A, Asl SN, Shahrooei M, Zifarelli G, Burglen L, Ravelli C, Zschocke J, Schatz UA, Ghavideldarestani M, Kamel WA, Van Esch H, Hackenberg A, Taylor JC, Al-Gazali L, Bauer P, Gleeson JJ, Alkuraya FS, Lupski JR, Galehdari H, Azizimalamiri R, Chung WK, Baig SM, Houlden H, Severino M. Maroofian R, et al. Brain. 2023 Dec 1;146(12):5031-5043. doi: 10.1093/brain/awad257. Brain. 2023. PMID: 37517035 Free PMC article.
Limb-girdle myopathy and mild intellectual disability: The expanding spectrum of TANGO2-related disease.
Restrepo-Vera JL, Muñoz-Cabello P, Pérez-Rodon J, Rovira-Moreno E, Codina-Solà M, Llauradó A, Salvadó M, Sánchez-Tejerina D, Sotoca J, Martínez-Sáez E, García-Arumí E, Juntas-Morales R. Restrepo-Vera JL, et al. Neuromuscul Disord. 2023 Jun;33(6):463-467. doi: 10.1016/j.nmd.2023.02.010. Epub 2023 Feb 23. Neuromuscul Disord. 2023. PMID: 37119590
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population.
Sakakibara N, Nozu K, Yamamura T, Horinouchi T, Nagano C, Ye MJ, Ishiko S, Aoto Y, Rossanti R, Hamada R, Okamoto N, Shima Y, Nakanishi K, Matsuo M, Iijima K, Morisada N. Sakakibara N, et al. J Hum Genet. 2022 Jul;67(7):427-440. doi: 10.1038/s10038-022-01020-5. Epub 2022 Feb 9. J Hum Genet. 2022. PMID: 35140360
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.
Järvelä I, Määttä T, Acharya A, Leppälä J, Jhangiani SN, Arvio M, Siren A, Kankuri-Tammilehto M, Kokkonen H, Palomäki M, Varilo T, Fang M, Hadley TD, Jolly A, Linnankivi T, Paetau R, Saarela A, Kälviäinen R, Olme J, Nouel-Saied LM, Cornejo-Sanchez DM, Llaci L, Lupski JR, Posey JE, Leal SM, Schrauwen I. Järvelä I, et al. Hum Genet. 2021 Jul;140(7):1011-1029. doi: 10.1007/s00439-021-02268-1. Epub 2021 Mar 12. Hum Genet. 2021. PMID: 33710394 Free PMC article.
53 results