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873 results

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Page 1
Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort.
Geada S, Teixeira-Marques F, Teixeira B, Carvalho AL, Lousan N, Saraiva J, Murta J, Silva R, Zanlonghi X, Defoort-Dhellemmes S, Smirnov V, Dhaenens CM, Blanchet C, Meunier I, Marques JP. Geada S, et al. Among authors: saraiva j. Genes (Basel). 2023 Mar 30;14(4):830. doi: 10.3390/genes14040830. Genes (Basel). 2023. PMID: 37107588 Free PMC article.
Genetic profile of syndromic retinitis pigmentosa in Portugal.
Cortinhal T, Santos C, Vaz-Pereira S, Marta A, Duarte L, Miranda V, Costa J, Sousa AB, Peter VG, Kaminska K, Rivolta C, Carvalho AL, Saraiva J, Soares CA, Silva R, Murta J, Santos LC, Marques JP. Cortinhal T, et al. Among authors: saraiva j. Graefes Arch Clin Exp Ophthalmol. 2024 Jun;262(6):1883-1897. doi: 10.1007/s00417-023-06360-2. Epub 2024 Jan 8. Graefes Arch Clin Exp Ophthalmol. 2024. PMID: 38189974 Free PMC article.
Exploring first-degree family history in a cohort of Portuguese Alzheimer's disease patients: population evidence for X-chromosome linked and recessive inheritance of risk factors.
Tábuas-Pereira M, Bernardes C, Durães J, Lima M, Nogueira AR, Saraiva J, Tábuas T, Coelho M, Paquette K, Westra K, Kun-Rodrigues C, Almeida MR, Baldeiras I, Brás J, Guerreiro R, Santana I. Tábuas-Pereira M, et al. Among authors: saraiva j. J Neurol. 2024 Oct;271(10):6983-6990. doi: 10.1007/s00415-024-12673-x. Epub 2024 Sep 5. J Neurol. 2024. PMID: 39235525 Free PMC article.
Disentangling Sources of Momentum Fluctuations in Xe+Xe and Pb+Pb Collisions with the ATLAS Detector.
Aad G, Aakvaag E, Abbott B, Abdelhameed S, Abeling K, Abicht NJ, Abidi SH, Aboelela M, Aboulhorma A, Abramowicz H, Abreu H, Abulaiti Y, Acharya BS, Ackermann A, Adam Bourdarios C, Adamczyk L, Addepalli SV, Addison MJ, Adelman J, Adiguzel A, Adye T, Affolder AA, Afik Y, Agaras MN, Agarwala J, Aggarwal A, Agheorghiesei C, Ahmadov F, Ahmed WS, Ahuja S, Ai X, Aielli G, Aikot A, Ait Tamlihat M, Aitbenchikh B, Akbiyik M, Åkesson TPA, Akimov AV, Akiyama D, Akolkar NN, Aktas S, Al Khoury K, Alberghi GL, Albert J, Albicocco P, Albouy GL, Alderweireldt S, Alegria ZL, Aleksa M, Aleksandrov IN, Alexa C, Alexopoulos T, Alfonsi F, Algren M, Alhroob M, Ali B, Ali HMJ, Ali S, Alibocus SW, Aliev M, Alimonti G, Alkakhi W, Allaire C, Allbrooke BMM, Allen JF, Allendes Flores CA, Allport PP, Aloisio A, Alonso F, Alpigiani C, Alsolami ZMK, Alvarez Estevez M, Alvarez Fernandez A, Alves Cardoso M, Alviggi MG, Aly M, Amaral Coutinho Y, Ambler A, Amelung C, Amerl M, Ames CG, Amidei D, Amini B, Amirie KJ, Amor Dos Santos SP, Amos KR, An S, Ananiev V, Anastopoulos C, Andeen T, Anders JK, Anderson AC, Andrean SY, Andreazza A, Angelidakis S, Angerami A, Anisenkov AV, Annovi A, Antel C, Antipov E, Antonelli M, … See abstract for full author list ➔ Aad G, et al. Among authors: saraiva jg. Phys Rev Lett. 2024 Dec 20;133(25):252301. doi: 10.1103/PhysRevLett.133.252301. Phys Rev Lett. 2024. PMID: 39752696 Free article.
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.
Elkhateeb N, Crookes R, Spiller M, Pavinato L, Palermo F, Brusco A, Parker M, Park SM, Mendes AC, Saraiva JM, Hammer TB, Nazaryan-Petersen L, Barakat TS, Wilke M, Bhoj E, Ahrens-Nicklas RC, Li D, Nomakuchi T, Brilstra EH, Hunt D, Johnson D, Mansour S, Oprych K, Mehta SG, Platzer K, Schnabel F, Kiep H, Faust H, Prinzing G, Wiltrout K, Radley JA, Serrano Russi AH, Atallah I, Campos-Xavier B, Amor DJ, Morgan A, Fagerberg C, Andersen UA, Andersen CB, Bijlsma EK, Bird LM, Mullegama SV, Green A, Isidor B, Cogné B, Kenny J, Lynch SA, Quin S, Low K, Herget T, Kortüm F, Levy RJ, Morrison JL, Wheeler PG, Narumanch TC, Peron K, Matthews N, Uhlman J, Bell L, Pang L, Scurr I, Belles RS, Salbert BA, Schaefer GB, Green S, Ros A, Rodríguez-Palmero A, Višnjar T, Writzl K, Vasudevan PC, Balasubramanian M. Elkhateeb N, et al. Among authors: saraiva jm. Genet Med. 2024 Dec 27:101348. doi: 10.1016/j.gim.2024.101348. Online ahead of print. Genet Med. 2024. PMID: 39737487 Free article.
Awareness and Perceptions towards the Role of Systemic Inflammation and High-Sensitivity C-reactive Protein as a Biomarker in Atherosclerotic Cardiovascular Disease and Chronic Kidney Disease: The Multinational FLAME-ASCVD Survey amongst Cardiologists.
Marx N, Komuro I, Prasad P, Qian J, Saraiva JFK, Zonoozi AAM, Shete A, Catapano AL. Marx N, et al. Among authors: saraiva jfk. Glob Heart. 2024 Dec 26;19(1):98. doi: 10.5334/gh.1382. eCollection 2024. Glob Heart. 2024. PMID: 39735352 Free PMC article. No abstract available.
Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome's clinical and molecular spectrum through NALCN in-silico structural analysis.
Vecchio D, Macchiaiolo M, Gonfiantini MV, Panfili FM, Petrizzelli F, Liorni N, Cortellessa F, Sinibaldi L, Rana I, Agolini E, Cocciadiferro D, Colantoni N, Semeraro M, Rizzo C, Deodati A, Cotugno N, Caggiano S, Verrillo E, Nucci CG, Alkan S, Saraiva JM, De Sá J, Almeida PM, Krishna J, Buonuomo PS, Martinelli D, Dionisi Vici C, Caputo V, Bartuli A, Novelli A, Mazza T. Vecchio D, et al. Among authors: saraiva jm. Front Genet. 2024 Dec 11;15:1477940. doi: 10.3389/fgene.2024.1477940. eCollection 2024. Front Genet. 2024. PMID: 39722796 Free PMC article.
873 results