Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2000 | 1 |
2011 | 1 |
2014 | 1 |
2016 | 1 |
2017 | 1 |
2019 | 1 |
2020 | 1 |
2024 | 0 |
PubMed (cited) for id: 614647
6 results
Results by year
Filters applied: . Clear all
Page 1
Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype.
Eur J Med Genet. 2020 Jan;63(1):103621. doi: 10.1016/j.ejmg.2019.01.011. Epub 2019 Jan 22.
Eur J Med Genet. 2020.
PMID: 30682496
COQ6 Mutations in Children With Steroid-Resistant Focal Segmental Glomerulosclerosis and Sensorineural Hearing Loss.
Park E, Ahn YH, Kang HG, Yoo KH, Won NH, Lee KB, Moon KC, Seong MW, Gwon TR, Park SS, Cheong HI.
Park E, et al.
Am J Kidney Dis. 2017 Jul;70(1):139-144. doi: 10.1053/j.ajkd.2016.10.040. Epub 2017 Jan 20.
Am J Kidney Dis. 2017.
PMID: 28117207
Item in Clipboard
High-throughput discovery of novel developmental phenotypes.
Dickinson ME, Flenniken AM, Ji X, Teboul L, Wong MD, White JK, Meehan TF, Weninger WJ, Westerberg H, Adissu H, Baker CN, Bower L, Brown JM, Caddle LB, Chiani F, Clary D, Cleak J, Daly MJ, Denegre JM, Doe B, Dolan ME, Edie SM, Fuchs H, Gailus-Durner V, Galli A, Gambadoro A, Gallegos J, Guo S, Horner NR, Hsu CW, Johnson SJ, Kalaga S, Keith LC, Lanoue L, Lawson TN, Lek M, Mark M, Marschall S, Mason J, McElwee ML, Newbigging S, Nutter LM, Peterson KA, Ramirez-Solis R, Rowland DJ, Ryder E, Samocha KE, Seavitt JR, Selloum M, Szoke-Kovacs Z, Tamura M, Trainor AG, Tudose I, Wakana S, Warren J, Wendling O, West DB, Wong L, Yoshiki A; International Mouse Phenotyping Consortium; Jackson Laboratory; Infrastructure Nationale PHENOMIN, Institut Clinique de la Souris (ICS); Charles River Laboratories; MRC Harwell; Toronto Centre for Phenogenomics; Wellcome Trust Sanger Institute; RIKEN BioResource Center; MacArthur DG, Tocchini-Valentini GP, Gao X, Flicek P, Bradley A, Skarnes WC, Justice MJ, Parkinson HE, Moore M, Wells S, Braun RE, Svenson KL, de Angelis MH, Herault Y, Mohun T, Mallon AM, Henkelman RM, Brown SD, Adams DJ, Lloyd KC, McKerlie C, Beaudet AL, Bućan M, Murray SA.
Dickinson ME, et al.
Nature. 2016 Sep 22;537(7621):508-514. doi: 10.1038/nature19356. Epub 2016 Sep 14.
Nature. 2016.
PMID: 27626380
Free PMC article.
Item in Clipboard
A germline missense mutation in COQ6 is associated with susceptibility to familial schwannomatosis.
Zhang K, Lin JW, Wang J, Wu X, Gao H, Hsieh YC, Hwu P, Liu YR, Su L, Chiou HY, Wang D, Yuan YC, Whang-Peng J, Chiu WT, Yen Y.
Zhang K, et al.
Genet Med. 2014 Oct;16(10):787-92. doi: 10.1038/gim.2014.39. Epub 2014 Apr 24.
Genet Med. 2014.
PMID: 24763291
Free PMC article.
Item in Clipboard
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
Heeringa SF, Chernin G, Chaki M, Zhou W, Sloan AJ, Ji Z, Xie LX, Salviati L, Hurd TW, Vega-Warner V, Killen PD, Raphael Y, Ashraf S, Ovunc B, Schoeb DS, McLaughlin HM, Airik R, Vlangos CN, Gbadegesin R, Hinkes B, Saisawat P, Trevisson E, Doimo M, Casarin A, Pertegato V, Giorgi G, Prokisch H, Rötig A, Nürnberg G, Becker C, Wang S, Ozaltin F, Topaloglu R, Bakkaloglu A, Bakkaloglu SA, Müller D, Beissert A, Mir S, Berdeli A, Varpizen S, Zenker M, Matejas V, Santos-Ocaña C, Navas P, Kusakabe T, Kispert A, Akman S, Soliman NA, Krick S, Mundel P, Reiser J, Nürnberg P, Clarke CF, Wiggins RC, Faul C, Hildebrandt F.
Heeringa SF, et al.
J Clin Invest. 2011 May;121(5):2013-24. doi: 10.1172/JCI45693. Epub 2011 Apr 11.
J Clin Invest. 2011.
PMID: 21540551
Free PMC article.
Item in Clipboard
Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics.
Lai CH, Chou CY, Ch'ang LY, Liu CS, Lin W.
Lai CH, et al.
Genome Res. 2000 May;10(5):703-13. doi: 10.1101/gr.10.5.703.
Genome Res. 2000.
PMID: 10810093
Free PMC article.
Item in Clipboard
Cite
Cite