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Year | Number of Results |
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2005 | 2 |
2013 | 1 |
2014 | 1 |
2017 | 2 |
2024 | 1 |
PubMed (OMIM) for id: 23352
7 results
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Page 1
Stress response silencing by an E3 ligase mutated in neurodegeneration.
Nature. 2024 Feb;626(8000):874-880. doi: 10.1038/s41586-023-06985-7. Epub 2024 Jan 31.
Nature. 2024.
PMID: 38297121
Free PMC article.
Genetic Variants Associated with Episodic Ataxia in Korea.
Choi KD, Kim JS, Kim HJ, Jung I, Jeong SH, Lee SH, Kim DU, Kim SH, Choi SY, Shin JH, Kim DS, Park KP, Kim HS, Choi JH.
Choi KD, et al.
Sci Rep. 2017 Oct 23;7(1):13855. doi: 10.1038/s41598-017-14254-7.
Sci Rep. 2017.
PMID: 29062094
Free PMC article.
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The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D, Abouelhoda M, AlSayed M, Alhassnan Z, Alotaibi M, Kayyali H, Al-Owain M, Shah A, Rahbeeni Z, Al-Muhaizea MA, Alzaidan HI, Cupler E, Bohlega S, Faqeih E, Faden M, Alyounes B, Jaroudi D, Goljan E, Elbardisy H, Akilan A, Albar R, Aldhalaan H, Gulab S, Chedrawi A, Al Saud BK, Kurdi W, Makhseed N, Alqasim T, El Khashab HY, Al-Mousa H, Alhashem A, Kanaan I, Algoufi T, Alsaleem K, Basha TA, Al-Murshedi F, Khan S, Al-Kindy A, Alnemer M, Al-Hajjar S, Alyamani S, Aldhekri H, Al-Mehaidib A, Arnaout R, Dabbagh O, Shagrani M, Broering D, Tulbah M, Alqassmi A, Almugbel M, AlQuaiz M, Alsaman A, Al-Thihli K, Sulaiman RA, Al-Dekhail W, Alsaegh A, Bashiri FA, Qari A, Alhomadi S, Alkuraya H, Alsebayel M, Hamad MH, Szonyi L, Abaalkhail F, Al-Mayouf SM, Almojalli H, Alqadi KS, Elsiesy H, Shuaib TM, Seidahmed MZ, Abosoudah I, Akleh H, AlGhonaium A, Alkharfy TM, Al Mutairi F, Eyaid W, Alshanbary A, Sheikh FR, Alsohaibani FI, Alsonbul A, Al Tala S, Balkhy S, Bassiouni R, Alenizi AS, Hussein MH, Hassan S, Khalil M, Tabarki B, Alshahwan S, Oshi A, Sabr Y, Alsaadoun S, Salih MA, Mohamed S, Sultana H, Tamim A, El-Haj M, Alshahrani S, Bubshait DK, Alfadhel M, Faquih T, El-Kalioby M, Subhani S, Shah …
See abstract for full author list ➔
Monies D, et al.
Hum Genet. 2017 Aug;136(8):921-939. doi: 10.1007/s00439-017-1821-8. Epub 2017 Jun 9.
Hum Genet. 2017.
PMID: 28600779
Free PMC article.
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A novel locus for episodic ataxia:UBR4 the likely candidate.
Conroy J, McGettigan P, Murphy R, Webb D, Murphy SM, McCoy B, Albertyn C, McCreary D, McDonagh C, Walsh O, Lynch S, Ennis S.
Conroy J, et al.
Eur J Hum Genet. 2014 Apr;22(4):505-10. doi: 10.1038/ejhg.2013.173. Epub 2013 Aug 28.
Eur J Hum Genet. 2014.
PMID: 23982692
Free PMC article.
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p600, a unique protein required for membrane morphogenesis and cell survival.
Nakatani Y, Konishi H, Vassilev A, Kurooka H, Ishiguro K, Sawada J, Ikura T, Korsmeyer SJ, Qin J, Herlitz AM.
Nakatani Y, et al.
Proc Natl Acad Sci U S A. 2005 Oct 18;102(42):15093-8. doi: 10.1073/pnas.0507458102. Epub 2005 Oct 7.
Proc Natl Acad Sci U S A. 2005.
PMID: 16214886
Free PMC article.
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Association of the human papillomavirus type 16 E7 oncoprotein with the 600-kDa retinoblastoma protein-associated factor, p600.
Huh KW, DeMasi J, Ogawa H, Nakatani Y, Howley PM, Münger K.
Huh KW, et al.
Proc Natl Acad Sci U S A. 2005 Aug 9;102(32):11492-7. doi: 10.1073/pnas.0505337102. Epub 2005 Aug 1.
Proc Natl Acad Sci U S A. 2005.
PMID: 16061792
Free PMC article.
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Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.
Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O.
Nagase T, et al.
DNA Res. 2000 Feb 28;7(1):65-73. doi: 10.1093/dnares/7.1.65.
DNA Res. 2000.
PMID: 10718198
Free article.
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