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Page 1
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.
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.
[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.
Skin signs in Ehlers-Danlos syndrome: clinical tests and para-clinical methods.
Remvig L, Duhn P, Ullman S, Arokoski J, Jurvelin J, Safi A, Jensen F, Farholt S, Hove H, Juul-Kristensen B. Remvig L, et al. Among authors: farholt s. Scand J Rheumatol. 2010 Nov;39(6):511-7. doi: 10.3109/03009741003781977. Epub 2010 Aug 5. Scand J Rheumatol. 2010. PMID: 20684735 Clinical Trial.
[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.
[Picture of the month: henna tattooing].
Mikkelsen CS, Sommerlund M, Farholt S. Mikkelsen CS, et al. Among authors: farholt s. Ugeskr Laeger. 2008 Jun 23;170(26-32):2349. Ugeskr Laeger. 2008. PMID: 18592669 Danish. No abstract available.
45 results