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Page 1
Cerebral Oximetry Monitoring in Extremely Preterm Infants.
Hansen ML, Pellicer A, Hyttel-Sørensen S, Ergenekon E, Szczapa T, Hagmann C, Naulaers G, Mintzer J, Fumagalli M, Dimitriou G, Dempsey E, Tkaczyk J, Cheng G, Fredly S, Heuchan AM, Pichler G, Fuchs H, Nesargi S, Hahn GH, Piris-Borregas S, Širc J, Alsina-Casanova M, Stocker M, Ozkan H, Sarafidis K, Hopper AO, Karen T, Rzepecka-Weglarz B, Oguz SS, Arruza L, Memisoglu AC, Del Rio Florentino R, Baserga M, Maton P, Truttmann AC, de Las Cuevas I, Agergaard P, Zafra P, Bender L, Lauterbach R, Lecart C, de Buyst J, El-Khuffash A, Curley A, Vaccarello OO, Miletin J, Papathoma E, Vesoulis Z, Vento G, Cornette L, Lopez LS, Yasa B, Klamer A, Agosti M, Baud O, Mastretta E, Cetinkaya M, McCall K, Zeng S, Hatzidaki E, Bargiel A, Marciniak S, Gao X, Huijia L, Chalak L, Yang L, Rao SA, Xu X, Gonzalez BL, Wilinska M, Yin Z, Sadowska-Krawczenko I, Serrano-Viñuales I, Krolak-Olejnik B, Ybarra MM, Morales-Betancourt C, Korček P, Teresa-Palacio M, Mosca F, Hergenhan A, Koksal N, Tsoni K, Kadri MM, Knöpfli C, Rafinska-Wazny E, Akin MS, Nordvik T, Peng Z, Kersin SG, Thewissen L, Alarcon A, Healy D, Urlesberger B, Baş M, Baumgartner J, Skylogianni E, Karadyova V, Valverde E, Bergon-Sendin E, Kucera J, Pison… See abstract for full author list ➔ Hansen ML, et al. N Engl J Med. 2023 Apr 20;388(16):1501-1511. doi: 10.1056/NEJMoa2207554. N Engl J Med. 2023. PMID: 37075142 Clinical Trial.
Effect of the COVID-19 pandemic on surgery for indeterminate thyroid nodules (THYCOVID): a retrospective, international, multicentre, cross-sectional study.
Medas F, Dobrinja C, Al-Suhaimi EA, Altmeier J, Anajar S, Arikan AE, Azaryan I, Bains L, Basili G, Bolukbasi H, Bononi M, Borumandi F, Bozan MB, Brenta G, Brunaud L, Brunner M, Buemi A, Canu GL, Cappellacci F, Cartwright SB, Castells Fusté I, Cavalheiro B, Cavallaro G, Chala A, Chan SYB, Chaplin J, Cheema MS, Chiapponi C, Chiofalo MG, Chrysos E, D'Amore A, de Cillia M, De Crea C, de Manzini N, de Matos LL, De Pasquale L, Del Rio P, Demarchi MS, Dhiwakar M, Donatini G, Dora JM, D'Orazi V, Doulatram Gamgaram VK, Eismontas V, Kabiri EH, El Malki HO, Elzahaby I, Enciu O, Eskander A, Feroci F, Figueroa-Bohorquez D, Filis D, François G, Frías-Fernández P, Gamboa-Dominguez A, Genc V, Giordano D, Gómez-Pedraza A, Graceffa G, Griffin J, Guerreiro SC, Gupta K, Gupta KK, Gurrado A, Hajiioannou J, Hakala T, Harahap WA, Hargitai L, Hartl D, Hellmann A, Hlozek J, Hoang VT, Iacobone M, Innaro N, Ioannidis O, Jang JHI, Xavier-Junior JC, Jovanovic M, Kaderli RM, Kakamad F, Kaliszewski K, Karamanliev M, Katoh H, Košec A, Kovacevic B, Kowalski LP, Králik R, Yadav SK, Kumorová A, Lampridis S, Lasithiotakis K, Leclere JC, Leong EKF, Leow MK, Lim JY, Lino-Silva LS, Liu SYW, Llorach NP, Lombardi CP, Lóp… See abstract for full author list ➔ Medas F, et al. Lancet Diabetes Endocrinol. 2023 Jun;11(6):402-413. doi: 10.1016/S2213-8587(23)00094-3. Epub 2023 Apr 28. Lancet Diabetes Endocrinol. 2023. PMID: 37127041 Free PMC article.
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Zhang LX, Lemire G, Gonzaga-Jauregui C, Molidperee S, Galaz-Montoya C, Liu DS, Verloes A, Shillington AG, Izumi K, Ritter AL, Keena B, Zackai E, Li D, Bhoj E, Tarpinian JM, Bedoukian E, Kukolich MK, Innes AM, Ediae GU, Sawyer SL, Nair KM, Soumya PC, Subbaraman KR, Probst FJ, Bassetti JA, Sutton RV, Gibbs RA, Brown C, Boone PM, Holm IA, Tartaglia M, Ferrero GB, Niceta M, Dentici ML, Radio FC, Keren B, Wells CF, Coubes C, Laquerrière A, Aziza J, Dubucs C, Nampoothiri S, Mowat D, Patel MS, Bracho A, Cammarata-Scalisi F, Gezdirici A, Fernandez-Jaen A, Hauser N, Zarate YA, Bosanko KA, Dieterich K, Carey JC, Chong JX, Nickerson DA, Bamshad MJ, Lee BH, Yang XJ, Lupski JR, Campeau PM. Zhang LX, et al. Genet Med. 2020 Aug;22(8):1338-1347. doi: 10.1038/s41436-020-0811-8. Epub 2020 May 19. Genet Med. 2020. PMID: 32424177 Free PMC article. Review.
Phenotypic expansion in DDX3X - a common cause of intellectual disability in females.
Wang X, Posey JE, Rosenfeld JA, Bacino CA, Scaglia F, Immken L, Harris JM, Hickey SE, Mosher TM, Slavotinek A, Zhang J, Beuten J, Leduc MS, He W, Vetrini F, Walkiewicz MA, Bi W, Xiao R, Liu P, Shao Y, Gezdirici A, Gulec EY, Jiang Y, Darilek SA, Hansen AW, Khayat MM, Pehlivan D, Piard J, Muzny DM, Hanchard N, Belmont JW, Van Maldergem L, Gibbs RA, Eldomery MK, Akdemir ZC, Adesina AM, Chen S, Lee YC; Undiagnosed Diseases Network; Lee B, Lupski JR, Eng CM, Xia F, Yang Y, Graham BH, Moretti P. Wang X, et al. Ann Clin Transl Neurol. 2018 Sep 15;5(10):1277-1285. doi: 10.1002/acn3.622. eCollection 2018 Oct. Ann Clin Transl Neurol. 2018. PMID: 30349862 Free PMC article.
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.
Dias CM, Punetha J, Zheng C, Mazaheri N, Rad A, Efthymiou S, Petersen A, Dehghani M, Pehlivan D, Partlow JN, Posey JE, Salpietro V, Gezdirici A, Malamiri RA, Al Menabawy NM, Selim LA, Vahidi Mehrjardi MY, Banu S, Polla DL, Yang E, Rezazadeh Varaghchi J, Mitani T, van Beusekom E, Najafi M, Sedaghat A, Keller-Ramey J, Durham L, Coban-Akdemir Z, Karaca E, Orlova V, Schaeken LLM, Sherafat A, Jhangiani SN, Stanley V, Shariati G, Galehdari H, Gleeson JG, Walsh CA, Lupski JR, Seiradake E, Houlden H, van Bokhoven H, Maroofian R. Dias CM, et al. Am J Hum Genet. 2019 Nov 7;105(5):1048-1056. doi: 10.1016/j.ajhg.2019.09.025. Epub 2019 Oct 24. Am J Hum Genet. 2019. PMID: 31668703 Free PMC article.