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Page 1
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, Abdelrazek IM, Pantel JT, Hagen MT, Thong MK, Binti Mazlan RA, Tae SK, Kamphans T, Meiswinkel W, Li JM, Javanmardi B, Knaus A, Uwineza A, Knopp C, Tkemaladze T, Elbracht M, Mattern L, Jamra RA, Velmans C, Strehlow V, Jacob M, Peron A, Dias C, Nunes BC, Vilella T, Pinheiro IF, Kim CA, Melaragno MI, Weiland H, Kaptain S, Chwiałkowska K, Kwasniewski M, Saad R, Wiethoff S, Goel H, Tang C, Hau A, Barakat TS, Panek P, Nabil A, Suh J, Braun F, Gomy I, Averdunk L, Ekure E, Bergant G, Peterlin B, Graziano C, Gaboon N, Fiesco-Roa M, Spinelli AM, Wilpert NM, Phowthongkum P, Güzel N, Haack TB, Bitar R, Tzschach A, Rodriguez-Palmero A, Brunet T, Rudnik-Schöneborn S, Contreras-Capetillo SN, Oberlack A, Samango-Sprouse C, Sadeghin T, Olaya M, Platzer K, Borovikov A, Schnabel F, Heuft L, Herrmann V, Oegema R, Elkhateeb N, Kumar S, Komlosi K, Mohamed K, Kalantari S, Sirchia F, Martinez-Monseny AF, Höller M, Toutouna L, Mohamed A, Lasa-Aranzasti A, Sayer JA, Ehmke N, Danyel M, Sczakiel H, Schwartzmann S, Boschann F, Zhao M, Adam R, Einicke L, Horn D, Chew KS, Kam CC, Karakoyun M, Pode-Shakked B, Eliyahu A, Rock R, Carrion T, Cho… See abstract for full author list ➔ Lesmann H, et al. Among authors: dias c. Res Sq [Preprint]. 2024 Jun 10:rs.3.rs-4438861. doi: 10.21203/rs.3.rs-4438861/v1. Res Sq. 2024. PMID: 38903062 Free PMC article. Preprint.
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.
Peron A, D'Arco F, Aldinger KA, Smith-Hicks C, Zweier C, Gradek GA, Bradbury K, Accogli A, Andersen EF, Au PYB, Battini R, Beleford D, Bird LM, Bouman A, Bruel AL, Busk ØL, Campeau PM, Capra V, Carlston C, Carmichael J, Chassevent A, Clayton-Smith J, Bamshad MJ, Earl DL, Faivre L, Philippe C, Ferreira P, Graul-Neumann L, Green MJ, Haffner D, Haldipur P, Hanna S, Houge G, Jones WD, Kraus C, Kristiansen BE, Lespinasse J, Low KJ, Lynch SA, Maia S, Mao R, Kalinauskiene R, Melver C, McDonald K, Montgomery T, Morleo M, Motter C, Openshaw AS, Palumbos JC, Parikh AS, Perilla-Young Y, Powell CM, Person R, Desai M, Piard J, Pfundt R, Scala M, Serey-Gaut M, Shears D, Slavotinek A, Suri M, Turner C, Tvrdik T, Weiss K, Wentzensen IM, Zollino M, Hsieh TC; C4RCD Research Group; Telethon Undiagnosed Disease Program (TUDP); University of Washington Center for Mendelian Genomics (UW-CMG); de Vries BBA, Guillemot F, Dobyns WB, Viskochil D, Dias C. Peron A, et al. Among authors: dias c. Eur J Hum Genet. 2024 Oct 24. doi: 10.1038/s41431-024-01701-z. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39448799
Anemia Acuity Effect on Transfusion Strategies in Acute Myocardial Infarction: A Secondary Analysis of the MINT Trial.
Carrier FM, Cooper HA, Portela GT, Bertolet M, Lemesle G, Prochaska M, Kim S, Alexander JH, Crozier I, Ducrocq G, Quadros AS, Bagai A, Dracoulakis M, Madan M, Brooks MM, Carson JL, Hébert PC; MINT Investigators. Carrier FM, et al. JAMA Netw Open. 2024 Nov 4;7(11):e2442361. doi: 10.1001/jamanetworkopen.2024.42361. JAMA Netw Open. 2024. PMID: 39485351 Free PMC article. Clinical Trial.
Sex-Based Differences in Pulmonary Function and Cardiopulmonary Response 30 Months Post-COVID-19: A Brazilian Multicentric Study.
Goulart CDL, Arêas GPT, Milani M, Borges FFDR, Magalhães JR, Back GD, Borghi-Silva A, Oliveira LFL, de Paula AR, Marinho CC, Prado DP, Almeida CN, Dias CMCC, Gomes VA, Ritt LEF, Franzoni LT, Stein R, Neto MG, Cipriano Junior G, Almeida-Val F. Goulart CDL, et al. Among authors: dias cmcc. Int J Environ Res Public Health. 2024 Sep 27;21(10):1293. doi: 10.3390/ijerph21101293. Int J Environ Res Public Health. 2024. PMID: 39457266 Free PMC article.
Evaluating Models of the Ageing BOLD Response.
Henson RN, Olszowy W, Tsvetanov KA, Yadav PS; Cam‐CAN; Zeidman P. Henson RN, et al. Hum Brain Mapp. 2024 Oct 15;45(15):e70043. doi: 10.1002/hbm.70043. Hum Brain Mapp. 2024. PMID: 39422406 Free PMC article.
The Relevance of Plant-Based Diets and Micronutrient Supplementation for Body Composition: Data from the VeggieNutri Cross-Sectional Study.
Pinheiro C, Silva F, Rocha I, Martins C, Giesteira L, Dias B, Lucas A, Alexandre AM, Ferreira C, Viegas B, Bracchi I, Guimarães J, Amaro J, Amaral TF, Dias CC, Oliveira A, Ndrio A, Guimarães JT, Leite JC, Negrão R, Keating E. Pinheiro C, et al. Among authors: dias cc. Nutrients. 2024 Sep 30;16(19):3322. doi: 10.3390/nu16193322. Nutrients. 2024. PMID: 39408288 Free PMC article.
Restrictive vs Liberal Transfusion Strategy in Patients With Acute Brain Injury: The TRAIN Randomized Clinical Trial.
Taccone FS, Rynkowski Bittencourt C, Møller K, Lormans P, Quintana-Díaz M, Caricato A, Cardoso Ferreira MA, Badenes R, Kurtz P, Søndergaard CB, Colpaert K, Petterson L, Quintard H, Cinotti R, Gouvêa Bogossian E, Righy C, Silva S, Roman-Pognuz E, Vandewaeter C, Lemke D, Huet O, Mahmoodpoor A, Blandino Ortiz A, van der Jagt M, Chabanne R, Videtta W, Bouzat P, Vincent JL; TRAIN Study Group. Taccone FS, et al. JAMA. 2024 Oct 9. doi: 10.1001/jama.2024.20424. Online ahead of print. JAMA. 2024. PMID: 39382241
1,482 results