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Page 1
Young woman with a headache.
Hoffer M, Boniface K. Hoffer M, et al. J Am Coll Emerg Physicians Open. 2024 Sep 10;5(5):e13287. doi: 10.1002/emp2.13287. eCollection 2024 Oct. J Am Coll Emerg Physicians Open. 2024. PMID: 39494104 Free PMC article. No abstract available.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. Johansson LF, et al. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
Prenatal cell-free DNA testing of women with pregnancy-associated cancer: a retrospective cross-sectional study.
Heesterbeek CJ, Tjan-Heijnen VCG, Heimovaara JH, Lenaerts L, Lok C, Vriens IJH, Van Opstal D, Boon EMJ, Sie D, de Die-Smulders CEM, Amant F, Macville MVE; Dutch NIPT Consortium. Heesterbeek CJ, et al. Lancet Reg Health Eur. 2024 Aug 7;45:101024. doi: 10.1016/j.lanepe.2024.101024. eCollection 2024 Oct. Lancet Reg Health Eur. 2024. PMID: 39220433 Free PMC article.
Amplitude Parameters Are Predictive of Hearing Preservation in a Randomized Controlled Trial of Intracochlear Electrocochleography During Cochlear Implant Surgery.
Harris MS, Koka K, Thompson-Harvey A, Harvey E, Riggs WJ, Saleh S, Holder JT, Dwyer RT, Prentiss SM, Lefler SM, Kozlowski K, Hiss MM, Ortmann AJ, Nelson-Bakkum ER, Büchner A, Salcher R, Harvey SA, Hoffer ME, Bohorquez JE, Alzhrani F, Alshihri R, Almuhawas F, Danner CJ, Friedland DR, Seidman MD, Lenarz T, Telischi FF, Labadie RF, Buchman CA, Adunka OF. Harris MS, et al. Among authors: hoffer me. Otol Neurotol. 2024 Sep 1;45(8):887-894. doi: 10.1097/MAO.0000000000004286. Epub 2024 Jul 25. Otol Neurotol. 2024. PMID: 39052893 Clinical Trial.
337 results