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Year Number of Results
2005 1
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2007 2
2008 1
2011 1
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2015 3
2016 5
2017 2
2019 1
2024 0

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19 results

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Page 1
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.
Haack TB, Jackson CB, Murayama K, Kremer LS, Schaller A, Kotzaeridou U, de Vries MC, Schottmann G, Santra S, Büchner B, Wieland T, Graf E, Freisinger P, Eggimann S, Ohtake A, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Sauer S, Memari Y, Kolb-Kokocinski A, Durbin R, Hasselmann O, Cremer K, Albrecht B, Wieczorek D, Engels H, Hahn D, Zink AM, Alston CL, Taylor RW, Rodenburg RJ, Trollmann R, Sperl W, Strom TM, Hoffmann GF, Mayr JA, Meitinger T, Bolognini R, Schuelke M, Nuoffer JM, Kölker S, Prokisch H, Klopstock T. Haack TB, et al. Among authors: kolb kokocinski a. Ann Clin Transl Neurol. 2015 May;2(5):492-509. doi: 10.1002/acn3.189. Epub 2015 Mar 13. Ann Clin Transl Neurol. 2015. PMID: 26000322 Free PMC article.
Common genetic variation drives molecular heterogeneity in human iPSCs.
Kilpinen H, Goncalves A, Leha A, Afzal V, Alasoo K, Ashford S, Bala S, Bensaddek D, Casale FP, Culley OJ, Danecek P, Faulconbridge A, Harrison PW, Kathuria A, McCarthy D, McCarthy SA, Meleckyte R, Memari Y, Moens N, Soares F, Mann A, Streeter I, Agu CA, Alderton A, Nelson R, Harper S, Patel M, White A, Patel SR, Clarke L, Halai R, Kirton CM, Kolb-Kokocinski A, Beales P, Birney E, Danovi D, Lamond AI, Ouwehand WH, Vallier L, Watt FM, Durbin R, Stegle O, Gaffney DJ. Kilpinen H, et al. Among authors: kolb kokocinski a. Nature. 2017 Jun 15;546(7658):370-375. doi: 10.1038/nature22403. Epub 2017 May 10. Nature. 2017. PMID: 28489815 Free PMC article.
A Runx1-Smad6 rheostat controls Runx1 activity during embryonic hematopoiesis.
Knezevic K, Bee T, Wilson NK, Janes ME, Kinston S, Polderdijk S, Kolb-Kokocinski A, Ottersbach K, Pencovich N, Groner Y, de Bruijn M, Göttgens B, Pimanda JE. Knezevic K, et al. Among authors: kolb kokocinski a. Mol Cell Biol. 2011 Jul;31(14):2817-26. doi: 10.1128/MCB.01305-10. Epub 2011 May 16. Mol Cell Biol. 2011. PMID: 21576367 Free PMC article.
Clonality of circulating tumor cells in breast cancer brain metastasis patients.
Riebensahm C, Joosse SA, Mohme M, Hanssen A, Matschke J, Goy Y, Witzel I, Lamszus K, Kropidlowski J, Petersen C, Kolb-Kokocinski A, Sauer S, Borgmann K, Glatzel M, Müller V, Westphal M, Riethdorf S, Pantel K, Wikman H. Riebensahm C, et al. Among authors: kolb kokocinski a. Breast Cancer Res. 2019 Sep 3;21(1):101. doi: 10.1186/s13058-019-1184-2. Breast Cancer Res. 2019. PMID: 31481116 Free PMC article.
Insights into hominid evolution from the gorilla genome sequence.
Scally A, Dutheil JY, Hillier LW, Jordan GE, Goodhead I, Herrero J, Hobolth A, Lappalainen T, Mailund T, Marques-Bonet T, McCarthy S, Montgomery SH, Schwalie PC, Tang YA, Ward MC, Xue Y, Yngvadottir B, Alkan C, Andersen LN, Ayub Q, Ball EV, Beal K, Bradley BJ, Chen Y, Clee CM, Fitzgerald S, Graves TA, Gu Y, Heath P, Heger A, Karakoc E, Kolb-Kokocinski A, Laird GK, Lunter G, Meader S, Mort M, Mullikin JC, Munch K, O'Connor TD, Phillips AD, Prado-Martinez J, Rogers AS, Sajjadian S, Schmidt D, Shaw K, Simpson JT, Stenson PD, Turner DJ, Vigilant L, Vilella AJ, Whitener W, Zhu B, Cooper DN, de Jong P, Dermitzakis ET, Eichler EE, Flicek P, Goldman N, Mundy NI, Ning Z, Odom DT, Ponting CP, Quail MA, Ryder OA, Searle SM, Warren WC, Wilson RK, Schierup MH, Rogers J, Tyler-Smith C, Durbin R. Scally A, et al. Among authors: kolb kokocinski a. Nature. 2012 Mar 7;483(7388):169-75. doi: 10.1038/nature10842. Nature. 2012. PMID: 22398555 Free PMC article.
Homozygous loss-of-function variants in European cosmopolitan and isolate populations.
Kaiser VB, Svinti V, Prendergast JG, Chau YY, Campbell A, Patarcic I, Barroso I, Joshi PK, Hastie ND, Miljkovic A, Taylor MS; Generation Scotland; UK10K; Enroth S, Memari Y, Kolb-Kokocinski A, Wright AF, Gyllensten U, Durbin R, Rudan I, Campbell H, Polašek O, Johansson Å, Sauer S, Porteous DJ, Fraser RM, Drake C, Vitart V, Hayward C, Semple CA, Wilson JF. Kaiser VB, et al. Among authors: kolb kokocinski a. Hum Mol Genet. 2015 Oct 1;24(19):5464-74. doi: 10.1093/hmg/ddv272. Epub 2015 Jul 14. Hum Mol Genet. 2015. PMID: 26173456 Free PMC article.
Gata2, Fli1, and Scl form a recursively wired gene-regulatory circuit during early hematopoietic development.
Pimanda JE, Ottersbach K, Knezevic K, Kinston S, Chan WY, Wilson NK, Landry JR, Wood AD, Kolb-Kokocinski A, Green AR, Tannahill D, Lacaud G, Kouskoff V, Göttgens B. Pimanda JE, et al. Among authors: kolb kokocinski a. Proc Natl Acad Sci U S A. 2007 Nov 6;104(45):17692-7. doi: 10.1073/pnas.0707045104. Epub 2007 Oct 25. Proc Natl Acad Sci U S A. 2007. PMID: 17962413 Free PMC article.
DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes.
Dougherty GW, Loges NT, Klinkenbusch JA, Olbrich H, Pennekamp P, Menchen T, Raidt J, Wallmeier J, Werner C, Westermann C, Ruckert C, Mirra V, Hjeij R, Memari Y, Durbin R, Kolb-Kokocinski A, Praveen K, Kashef MA, Kashef S, Eghtedari F, Häffner K, Valmari P, Baktai G, Aviram M, Bentur L, Amirav I, Davis EE, Katsanis N, Brueckner M, Shaposhnykov A, Pigino G, Dworniczak B, Omran H. Dougherty GW, et al. Among authors: kolb kokocinski a. Am J Respir Cell Mol Biol. 2016 Aug;55(2):213-24. doi: 10.1165/rcmb.2015-0353OC. Am J Respir Cell Mol Biol. 2016. PMID: 26909801 Free PMC article.
Whole-exome sequencing in an isolated population from the Dalmatian island of Vis.
Jeroncic A, Memari Y, Ritchie GR, Hendricks AE, Kolb-Kokocinski A, Matchan A, Vitart V, Hayward C, Kolcic I, Glodzik D, Wright AF, Rudan I, Campbell H, Durbin R, Polašek O, Zeggini E, Boraska Perica V. Jeroncic A, et al. Among authors: kolb kokocinski a. Eur J Hum Genet. 2016 Oct;24(10):1479-87. doi: 10.1038/ejhg.2016.23. Epub 2016 Apr 6. Eur J Hum Genet. 2016. PMID: 27049301 Free PMC article.
19 results