Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Results by year

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

Year Number of Results
2003 1
2004 3
2006 1
2007 1
2009 1
2010 1
2012 6
2013 3
2014 7
2015 9
2016 9
2017 8
2018 11
2019 11
2020 7
2021 9
Text availability
Article attribute
Article type
Publication date

Search Results

76 results
Results by year
Filters applied: . Clear all
Page 1
Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.
Grange DK, Roessler HI, McClenaghan C, Duran K, Shields K, Remedi MS, Knoers NVAM, Lee JM, Kirk EP, Scurr I, Smithson SF, Singh GK, van Haelst MM, Nichols CG, van Haaften G. Grange DK, et al. Among authors: van haaften g. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):658-681. doi: 10.1002/ajmg.c.31753. Am J Med Genet C Semin Med Genet. 2019. PMID: 31828977 Free PMC article.
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: van haaften g. 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.
Genetic obesity: next-generation sequencing results of 1230 patients with obesity.
Kleinendorst L, Massink MPG, Cooiman MI, Savas M, van der Baan-Slootweg OH, Roelants RJ, Janssen ICM, Meijers-Heijboer HJ, Knoers NVAM, Ploos van Amstel HK, van Rossum EFC, van den Akker ELT, van Haaften G, van der Zwaag B, van Haelst MM. Kleinendorst L, et al. Among authors: van haaften g. J Med Genet. 2018 Sep;55(9):578-586. doi: 10.1136/jmedgenet-2018-105315. Epub 2018 Jul 3. J Med Genet. 2018. PMID: 29970488
The ontogeny of Robin sequence.
Logjes RJH, Breugem CC, Van Haaften G, Paes EC, Sperber GH, van den Boogaard MH, Farlie PG. Logjes RJH, et al. Among authors: van haaften g. Am J Med Genet A. 2018 Jun;176(6):1349-1368. doi: 10.1002/ajmg.a.38718. Epub 2018 Apr 25. Am J Med Genet A. 2018. PMID: 29696787 Review.
Three-dimensional facial morphology in Cantú syndrome.
Roessler HI, Shields K, Grange DK, Knoers NVAM, van Haaften G, Hammond P, van Haelst MM. Roessler HI, et al. Among authors: van haaften g. Am J Med Genet A. 2020 May;182(5):1041-1052. doi: 10.1002/ajmg.a.61517. Epub 2020 Feb 26. Am J Med Genet A. 2020. PMID: 32100467 Free PMC article.
EML1-associated brain overgrowth syndrome with ribbon-like heterotopia.
Oegema R, McGillivray G, Leventer R, Le Moing AG, Bahi-Buisson N, Barnicoat A, Mandelstam S, Francis D, Francis F, Mancini GMS, Savelberg S, van Haaften G, Mankad K, Lequin MH. Oegema R, et al. Among authors: van haaften g. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):627-637. doi: 10.1002/ajmg.c.31751. Epub 2019 Nov 11. Am J Med Genet C Semin Med Genet. 2019. PMID: 31710781 Free PMC article. Review.
Metabolic fingerprinting reveals extensive consequences of GLS hyperactivity.
Rumping L, Pras-Raves ML, Gerrits J, Tang YF, Willemsen MA, Houwen RHJ, van Haaften G, van Hasselt PM, Verhoeven-Duif NM, Jans JJM. Rumping L, et al. Among authors: van haaften g. Biochim Biophys Acta Gen Subj. 2020 Mar;1864(3):129484. doi: 10.1016/j.bbagen.2019.129484. Epub 2019 Nov 14. Biochim Biophys Acta Gen Subj. 2020. PMID: 31734463 Free article.
Partner independent fusion gene detection by multiplexed CRISPR-Cas9 enrichment and long read nanopore sequencing.
Stangl C, de Blank S, Renkens I, Westera L, Verbeek T, Valle-Inclan JE, González RC, Henssen AG, van Roosmalen MJ, Stam RW, Voest EE, Kloosterman WP, van Haaften G, Monroe GR. Stangl C, et al. Among authors: van haaften g. Nat Commun. 2020 Jun 5;11(1):2861. doi: 10.1038/s41467-020-16641-7. Nat Commun. 2020. PMID: 32504042 Free PMC article.
Drug Repurposing for Rare Diseases.
Roessler HI, Knoers NVAM, van Haelst MM, van Haaften G. Roessler HI, et al. Among authors: van haaften g. Trends Pharmacol Sci. 2021 Apr;42(4):255-267. doi: 10.1016/j.tips.2021.01.003. Epub 2021 Feb 6. Trends Pharmacol Sci. 2021. PMID: 33563480 Review.
76 results