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Portuguese version of the Literacy Independent Cognitive Assessment (LICA) instrument in the evaluation of individuals aged 50 years or older with Itabaianinha syndrome.
Santos LB, Kellner M, Lisboa W, Faro A, Oliveira CRP, Batista VO, Oliveira-Santos AA, de Brito ÍVA, Marinho CG, Campos VC, Villar-Gouy KR, Leal ÂC, Amorim RS, Melo EV, Santos EG, Salvatori R, Aguiar-Oliveira MH. Santos LB, et al. Among authors: kellner m. Arch Endocrinol Metab. 2024 Aug 13;68:e230265. doi: 10.20945/2359-4292-2023-0265. eCollection 2024. Arch Endocrinol Metab. 2024. PMID: 39420931 Free PMC article.
Cognitive performance during senescence in untreated congenital isolated GH deficiency.
Batista VO, Kellner M, Salvatori R, Lisboa W, Faro A, Santos LB, Melo EV, Oliveira-Santos AA, Oliveira CRP, Campos VC, Barros-Oliveira CS, Santos EG, Santana NO, Villar-Gouy KR, Leal ÂC, Amorim RS, Oliveira Simões DA, Aguiar-Oliveira MH. Batista VO, et al. Among authors: kellner m. Endocr Connect. 2023 Dec 21;13(1):e230401. doi: 10.1530/EC-23-0401. Print 2024 Jan 1. Endocr Connect. 2023. PMID: 38019109 Free PMC article.
Brain morphometry and estimation of aging brain in subjects with congenital untreated isolated GH deficiency.
Villar-Gouy KR, Salmon CEG, Salvatori R, Kellner M, Krauss MPO, Rocha TO, de Souza EA, Batista VO, Leal ÂC, Santos LB, Melo EV, Oliveira-Santos AA, Oliveira CRP, Campos VC, Santos EG, Santana NO, Pereira FA, Amorim RS, Donato-Junior J, Filho JASB, Santos AC, Aguiar-Oliveira MH. Villar-Gouy KR, et al. Among authors: kellner m. J Endocrinol Invest. 2024 Nov;47(11):2797-2807. doi: 10.1007/s40618-024-02372-9. Epub 2024 Apr 16. J Endocrinol Invest. 2024. PMID: 38627331
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.
Prediction rigidities for data-driven chemistry.
Chong S, Bigi F, Grasselli F, Loche P, Kellner M, Ceriotti M. Chong S, et al. Among authors: kellner m. Faraday Discuss. 2024 Sep 25. doi: 10.1039/d4fd00101j. Online ahead of print. Faraday Discuss. 2024. PMID: 39319702 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.
282 results