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Page 1
Noninvasive Prenatal Screening for Trisomy 21 in Patients with a Vanishing Twin.
Kleinfinger P, Luscan A, Descourvieres L, Buzas D, Boughalem A, Serero S, Valduga M, Trost D, Costa JM, Vivanti AJ, Lohmann L. Kleinfinger P, et al. Among authors: costa jm. Genes (Basel). 2022 Nov 3;13(11):2027. doi: 10.3390/genes13112027. Genes (Basel). 2022. PMID: 36360264 Free PMC article.
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort.
Garret P, Chevarin M, Vitobello A, Verdez S, Fournier C, Verloes A, Tisserant E, Vabres P, Prevel O, Philippe C, Denommé-Pichon AS, Bruel AL, Mau-Them FT, Safraou H, Boughalem A, Costa JM, Trost D, Thauvin-Robinet C, Faivre L, Duffourd Y. Garret P, et al. Among authors: costa jm. Eur J Hum Genet. 2023 Jul;31(7):761-768. doi: 10.1038/s41431-022-01250-3. Epub 2022 Dec 1. Eur J Hum Genet. 2023. PMID: 36450799
Guidelines for the genetic diagnosis of hereditary recurrent fevers.
Shinar Y, Obici L, Aksentijevich I, Bennetts B, Austrup F, Ceccherini I, Costa JM, De Leener A, Gattorno M, Kania U, Kone-Paut I, Lezer S, Livneh A, Moix I, Nishikomori R, Ozen S, Phylactou L, Risom L, Rowczenio D, Sarkisian T, van Gijn ME, Witsch-Baumgartner M, Morris M, Hoffman HM, Touitou I; European Molecular Genetics Quality Network. Shinar Y, et al. Among authors: costa jm. Ann Rheum Dis. 2012 Oct;71(10):1599-605. doi: 10.1136/annrheumdis-2011-201271. Epub 2012 Jun 1. Ann Rheum Dis. 2012. PMID: 22661645 Free PMC article.
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.
Mochel F, Gras D, Luton MP, Nizou M, Giovannini D, Delattre C, Aubart M, Barth M, De Saint-Martin A, Doummar D, Essid N, Garros A, Le Camus CH, Hoebeke C, The Tich SN, Perivier M, Rivera S, Rolland A, Roubertie A, Sarret C, Sevin C, Ville D, Sitbon M, Costa JM, Pons R, Garcia-Cazorla A, Vuillaumier S, Petit V, Boespflug-Tanguy O, De Vivo DC; MetaGlut1 Study Group. Mochel F, et al. Among authors: costa jm. Neurology. 2023 Jun 6;100(23):e2360-e2373. doi: 10.1212/WNL.0000000000207296. Epub 2023 Apr 19. Neurology. 2023. PMID: 37076312 Free PMC article.
Corrigendum: Assessment of risk scores to predict mortality of COVID-19 patients admitted to the intensive care unit.
Nogueira MCA, Nobre V, Pires MC, Ramos LEF, Ribeiro YCNMB, Aguiar RLO, Vigil FMB, Gomes VMR, Santos CO, Miranda DM, Durães PAA, da Costa JM, Schwarzbold AV, Gomes AGDR, Pessoa BP, Matos CC, Cimini CCR, de Carvalho CA, Ponce D, Manenti ERF, Cenci EPA, Anschau F, Costa FCC, Nascimento FJM, Bartolazzi F, Grizende GMS, Vianna HR, Nepomuceno JC, Ruschel KB, Zandoná LB, de Castro LC, Souza MD, Carneiro M, Bicalho MAC, Vilaça MDN, Bonardi NPF, de Oliveira NR, Lutkmeier R, Francisco SC, Araújo SF, Delfino-Pereira P, Marcolino MS. Nogueira MCA, et al. Among authors: da costa jm. Front Med (Lausanne). 2024 Jan 31;11:1363948. doi: 10.3389/fmed.2024.1363948. eCollection 2024. Front Med (Lausanne). 2024. PMID: 38357642 Free PMC article.
581 results