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

Year Number of Results
2002 2
2003 1
2004 1
2005 2
2006 3
2008 2
2009 2
2010 1
2011 2
2012 1
2016 3
2017 2
2019 2
2022 1
2023 2
2024 1

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24 results

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Page 1
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
van Karnebeek CDM, Tarailo-Graovac M, Leen R, Meinsma R, Correard S, Jansen-Meijer J, Prykhozhij SV, Pena IA, Ban K, Schock S, Saxena V, Pras-Raves ML, Drögemöller BI, Grootemaat AE, van der Wel NN, Dobritzsch D, Roseboom W, Schomakers BV, Jaspers YRJ, Zoetekouw L, Roelofsen J, Ferreira CR, van der Lee R, Ross CJ, Kochan J, McIntyre RL, van Klinken JB, van Weeghel M, Kramer G, Weschke B, Labrune P, Willemsen MA, Riva D, Garavaglia B, Moeschler JB, Filiano JJ, Ekker M, Berman JN, Dyment D, Vaz FM, Wassermann WW, Houtkooper RH, van Kuilenburg ABP. van Karnebeek CDM, et al. Among authors: leen r. Genet Med. 2024 Feb 24;26(6):101104. doi: 10.1016/j.gim.2024.101104. Online ahead of print. Genet Med. 2024. PMID: 38411040 Free article.
Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.
Fazal S, Danzi MC, van Kuilenburg ABP, Reich S, Traschütz A, Bender B, Leen R, Toro C, Usdin K, Hayward B, Adams DR, van Karnebeek CDM, Ferreira CR, D'Sousa P, Network UD, Tekin M, Züchner S, Synofzik M. Fazal S, et al. Among authors: leen r. Hum Mol Genet. 2023 Jan 1;32(1):46-54. doi: 10.1093/hmg/ddac173. Hum Mol Genet. 2023. PMID: 35913761 Free PMC article.
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.
van Kuilenburg ABP, Tarailo-Graovac M, Richmond PA, Drögemöller BI, Pouladi MA, Leen R, Brand-Arzamendi K, Dobritzsch D, Dolzhenko E, Eberle MA, Hayward B, Jones MJ, Karbassi F, Kobor MS, Koster J, Kumari D, Li M, MacIsaac J, McDonald C, Meijer J, Nguyen C, Rajan-Babu IS, Scherer SW, Sim B, Trost B, Tseng LA, Turkenburg M, van Vugt JJFA, Veldink JH, Walia JS, Wang Y, van Weeghel M, Wright GEB, Xu X, Yuen RKC, Zhang J, Ross CJ, Wasserman WW, Geraghty MT, Santra S, Wanders RJA, Wen XY, Waterham HR, Usdin K, van Karnebeek CDM. van Kuilenburg ABP, et al. Among authors: leen r. N Engl J Med. 2019 Apr 11;380(15):1433-1441. doi: 10.1056/NEJMoa1806627. N Engl J Med. 2019. PMID: 30970188 Free PMC article.
DNA damage and transcription stress cause ATP-mediated redesign of metabolism and potentiation of anti-oxidant buffering.
Milanese C, Bombardieri CR, Sepe S, Barnhoorn S, Payán-Goméz C, Caruso D, Audano M, Pedretti S, Vermeij WP, Brandt RMC, Gyenis A, Wamelink MM, de Wit AS, Janssens RC, Leen R, van Kuilenburg ABP, Mitro N, Hoeijmakers JHJ, Mastroberardino PG. Milanese C, et al. Among authors: leen r. Nat Commun. 2019 Oct 25;10(1):4887. doi: 10.1038/s41467-019-12640-5. Nat Commun. 2019. PMID: 31653834 Free PMC article.
Multi-OMIC profiling of survival and metabolic signaling networks in cells subjected to photodynamic therapy.
Weijer R, Clavier S, Zaal EA, Pijls MM, van Kooten RT, Vermaas K, Leen R, Jongejan A, Moerland PD, van Kampen AH, van Kuilenburg AB, Berkers CR, Lemeer S, Heger M. Weijer R, et al. Among authors: leen r. Cell Mol Life Sci. 2017 Mar;74(6):1133-1151. doi: 10.1007/s00018-016-2401-0. Epub 2016 Nov 1. Cell Mol Life Sci. 2017. PMID: 27803950 Free PMC article.
24 results