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

Year Number of Results
2001 1
2002 1
2004 1
2005 3
2006 2
2007 3
2008 3
2009 3
2010 2
2011 2
2012 1
2013 1
2014 1
2015 1
2016 4
2017 7
2018 5
2019 2
2020 1
2021 6
2022 1
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43 results
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Page 1
Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.
van Rijn JM, Ardy RC, Kuloğlu Z, Härter B, van Haaften-Visser DY, van der Doef HPJ, van Hoesel M, Kansu A, van Vugt AHM, Thian M, Kokke FTM, Krolo A, Başaran MK, Kaya NG, Aksu AÜ, Dalgıç B, Ozcay F, Baris Z, Kain R, Stigter ECA, Lichtenbelt KD, Massink MPG, Duran KJ, Verheij JBGM, Lugtenberg D, Nikkels PGJ, Brouwer HGF, Verkade HJ, Scheenstra R, Spee B, Nieuwenhuis EES, Coffer PJ, Janecke AR, van Haaften G, Houwen RHJ, Müller T, Middendorp S, Boztug K. van Rijn JM, et al. Among authors: lugtenberg d. Gastroenterology. 2018 Jul;155(1):130-143.e15. doi: 10.1053/j.gastro.2018.03.040. Epub 2018 Mar 29. Gastroenterology. 2018. PMID: 29604290 Free PMC article.
Diagnostic exome sequencing in 266 Dutch patients with visual impairment.
Haer-Wigman L, van Zelst-Stams WA, Pfundt R, van den Born LI, Klaver CC, Verheij JB, Hoyng CB, Breuning MH, Boon CJ, Kievit AJ, Verhoeven VJ, Pott JW, Sallevelt SC, van Hagen JM, Plomp AS, Kroes HY, Lelieveld SH, Hehir-Kwa JY, Castelein S, Nelen M, Scheffer H, Lugtenberg D, Cremers FP, Hoefsloot L, Yntema HG. Haer-Wigman L, et al. Among authors: lugtenberg d. Eur J Hum Genet. 2017 May;25(5):591-599. doi: 10.1038/ejhg.2017.9. Epub 2017 Feb 22. Eur J Hum Genet. 2017. PMID: 28224992 Free PMC article.
Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.
Schlingmann KP, Renigunta A, Hoorn EJ, Forst AL, Renigunta V, Atanasov V, Mahendran S, Barakat TS, Gillion V, Godefroid N, Brooks AS, Lugtenberg D, Lake J, Debaix H, Rudin C, Knebelmann B, Tellier S, Rousset-Rouvière C, Viering D, de Baaij JHF, Weber S, Palygin O, Staruschenko A, Kleta R, Houillier P, Bockenhauer D, Devuyst O, Vargas-Poussou R, Warth R, Zdebik AA, Konrad M. Schlingmann KP, et al. Among authors: lugtenberg d. J Am Soc Nephrol. 2021 Jun 1;32(6):1498-1512. doi: 10.1681/ASN.2020111587. Epub 2021 Apr 2. J Am Soc Nephrol. 2021. PMID: 33811157 Free PMC article.
TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes.
Van De Weghe JC, Giordano JL, Mathijssen IB, Mojarrad M, Lugtenberg D, Miller CV, Dempsey JC, Mohajeri MSA, van Leeuwen E, Pajkrt E, Klaver CCW, Houlden H, Eslahi A, Waters AM; University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Aggarwal VS, de Vries BBA, Maroofian R, Doherty D. Van De Weghe JC, et al. Among authors: lugtenberg d. HGG Adv. 2021 Jan 14;2(1):100016. doi: 10.1016/j.xhgg.2020.100016. Epub 2020 Nov 21. HGG Adv. 2021. PMID: 33791682 Free PMC article.
43 results