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

Year Number of Results
1991 3
1996 2
1997 2
1998 2
2000 1
2001 1
2003 1
2008 1
2009 2
2010 5
2011 3
2012 2
2013 5
2014 2
2015 1
2016 2
2021 5
2022 4
2023 5
2024 0

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43 results

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Page 1
[Ehlers-Danlos syndrome].
Leganger J, Søborg ML, Farholt S, Lund AM, Rosenberg J, Burcharth J. Leganger J, et al. Among authors: farholt s. Ugeskr Laeger. 2016 Apr 25;178(17):V01160014. Ugeskr Laeger. 2016. PMID: 27136954 Free article. Review. Danish.
GrowthHormone Research Society workshop summary: consensus guidelines for recombinant human growth hormone therapy in Prader-Willi syndrome.
Deal CL, Tony M, Höybye C, Allen DB, Tauber M, Christiansen JS; 2011 Growth Hormone in Prader-Willi Syndrome Clinical Care Guidelines Workshop Participants. Deal CL, et al. J Clin Endocrinol Metab. 2013 Jun;98(6):E1072-87. doi: 10.1210/jc.2012-3888. Epub 2013 Mar 29. J Clin Endocrinol Metab. 2013. PMID: 23543664 Free PMC article. Review.
[Beckwith-Wiedemann over-growth syndrom].
Leunbach T, Farholt S, Skakkebæk A, Gregersen PA. Leunbach T, et al. Among authors: farholt s. Ugeskr Laeger. 2021 Jun 14;183(24):V02210163. Ugeskr Laeger. 2021. PMID: 34120690 Free article. Danish.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, Wang T, Kurtz-Nelson EC, Ahlers KP, Arts P, Barnett CP, Ashfaq M, Baban A, van den Born M, Borrie S, Busa T, Byrne A, Carriero M, Cesario C, Chong K, Cueto-González AM, Dempsey JC, Diderich KEM, Doherty D, Farholt S, Gerkes EH, Gorokhova S, Govaerts LCP, Gregersen PA, Hickey SE, Lefebvre M, Mari F, Martinovic J, Northrup H, O'Leary M, Parbhoo K, Patrier S, Popp B, Santos-Simarro F, Stoltenburg C, Thauvin-Robinet C, Thompson E, Vulto-van Silfhout AT, Zahir FR, Scott HS, Earl RK, Eichler EE, Vora NL, Wilnai Y, Giordano JL, Wapner RJ, Rosenfeld JA, Haak MC, Santen GWE. van der Sluijs PJ, et al. Among authors: farholt s. Genet Med. 2022 Aug;24(8):1753-1760. doi: 10.1016/j.gim.2022.04.010. Epub 2022 May 18. Genet Med. 2022. PMID: 35579625 Free PMC article.
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
Peluso F, Caraffi SG, Contrò G, Valeri L, Napoli M, Carboni G, Seth A, Zuntini R, Coccia E, Astrea G, Bisgaard AM, Ivanovski I, Maitz S, Brischoux-Boucher E, Carter MT, Dentici ML, Devriendt K, Bellini M, Digilio MC, Doja A, Dyment DA, Farholt S, Ferreira CR, Wolfe LA, Gahl WA, Gnazzo M, Goel H, Grønborg SW, Hammer T, Iughetti L, Kleefstra T, Koolen DA, Lepri FR, Lemire G, Louro P, McCullagh G, Madeo SF, Milone A, Milone R, Nielsen JEK, Novelli A, Ockeloen CW, Pascarella R, Pippucci T, Ricca I, Robertson SP, Sawyer S, Falkenberg Smeland M, Stegmann S, Stumpel CT, Goel A, Taylor JM, Barbuti D, Soresina A, Bedeschi MF, Battini R, Cavalli A, Fusco C, Iascone M, Van Maldergem L, Venkateswaran S, Zuffardi O, Vergano S, Garavelli L, Bayat A. Peluso F, et al. Among authors: farholt s. J Med Genet. 2023 Nov 27;60(12):1224-1234. doi: 10.1136/jmg-2023-109141. J Med Genet. 2023. PMID: 37586838 Free PMC article. Review.
[22q11 deletion syndrome].
Olesen C, Agergaard P, Boers M, Farholt S, Heilman CJ, Hvidkjaer L, Kristensen K, Lauritsen MB, Lunding J, Nielsen BW, Skovby F, Thrane N, Vogel I, Østergaard JR. Olesen C, et al. Among authors: farholt s. Ugeskr Laeger. 2010 Mar 29;172(13):1038-46. Ugeskr Laeger. 2010. PMID: 20350479 Review. Danish.
B3GAT3-related linkeropathy and an in-frame homozygous deletion in an adult patient.
Bolund ACS, Langdahl B, Laurberg TB, Hellfritzsch MB, Gjørup H, Møller-Madsen B, Nielsen TØ, Farholt S, Gregersen PA. Bolund ACS, et al. Among authors: farholt s. Eur J Med Genet. 2021 Dec;64(12):104342. doi: 10.1016/j.ejmg.2021.104342. Epub 2021 Sep 16. Eur J Med Genet. 2021. PMID: 34537402 Free article. Review.
43 results