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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1985 1
1990 2
1992 1
1993 1
1994 1
1995 1
1996 1
1999 1
2000 5
2002 3
2003 8
2004 4
2005 12
2006 4
2007 6
2008 9
2009 10
2010 8
2011 13
2012 13
2013 10
2014 13
2015 16
2016 16
2017 13
2018 12
2019 15
2020 23
2021 13
2022 24
2023 18
2024 17
2025 12

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262 results

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Page 1
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Richard EM, Santos-Cortez RLP, Faridi R, Rehman AU, Lee K, Shahzad M, Acharya A, Khan AA, Imtiaz A, Chakchouk I, Takla C, Abbe I, Rafeeq M, Liaqat K, Chaudhry T, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Schrauwen I, Khan SN, Morell RJ, Zafar S, Ansar M, Ahmed ZM, Ahmad W, Riazuddin S, Friedman TB, Leal SM, Riazuddin S. Richard EM, et al. Hum Mutat. 2019 Jan;40(1):53-72. doi: 10.1002/humu.23666. Epub 2018 Nov 18. Hum Mutat. 2019. PMID: 30303587 Free PMC article.
Global, regional, and national burden of meningitis and its aetiologies, 1990-2019: a systematic analysis for the Global Burden of Disease Study 2019.
GBD 2019 Meningitis Antimicrobial Resistance Collaborators. GBD 2019 Meningitis Antimicrobial Resistance Collaborators. Lancet Neurol. 2023 Aug;22(8):685-711. doi: 10.1016/S1474-4422(23)00195-3. Lancet Neurol. 2023. PMID: 37479374 Free PMC article.
The highest proportion of total all-age meningitis deaths in 2019 was attributable to S pneumoniae (18.1% [17.1-19.2]), followed by N meningitidis (13.6% [12.7-14.4]) and K pneumoniae (12.2% [10.2-14.3]). Between 1990 and 2019, H influenzae showed the largest reduction in …
The highest proportion of total all-age meningitis deaths in 2019 was attributable to S pneumoniae (18.1% [17.1-19.2]), followed by N mening …
FOXI3 pathogenic variants cause one form of craniofacial microsomia.
Mao K, Borel C, Ansar M, Jolly A, Makrythanasis P, Froehlich C, Iwaszkiewicz J, Wang B, Xu X, Li Q, Blanc X, Zhu H, Chen Q, Jin F, Ankamreddy H, Singh S, Zhang H, Wang X, Chen P, Ranza E, Paracha SA, Shah SF, Guida V, Piceci-Sparascio F, Melis D, Dallapiccola B, Digilio MC, Novelli A, Magliozzi M, Fadda MT, Streff H, Machol K, Lewis RA, Zoete V, Squeo GM, Prontera P, Mancano G, Gori G, Mariani M, Selicorni A, Psoni S, Fryssira H, Douzgou S, Marlin S, Biskup S, De Luca A, Merla G, Zhao S, Cox TC, Groves AK, Lupski JR, Zhang Q, Zhang YB, Antonarakis SE. Mao K, et al. Nat Commun. 2023 Apr 11;14(1):2026. doi: 10.1038/s41467-023-37703-6. Nat Commun. 2023. PMID: 37041148 Free PMC article.
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.
Beck DB, Petracovici A, He C, Moore HW, Louie RJ, Ansar M, Douzgou S, Sithambaram S, Cottrell T, Santos-Cortez RLP, Prijoles EJ, Bend R, Keren B, Mignot C, Nougues MC, Õunap K, Reimand T, Pajusalu S, Zahid M, Saqib MAN, Buratti J, Seaby EG, McWalter K, Telegrafi A, Baldridge D, Shinawi M, Leal SM, Schaefer GB, Stevenson RE, Banka S, Bonasio R, Fahrner JA. Beck DB, et al. Am J Hum Genet. 2020 Feb 6;106(2):234-245. doi: 10.1016/j.ajhg.2019.12.007. Epub 2020 Jan 9. Am J Hum Genet. 2020. PMID: 31928709 Free PMC article.
2-[4-(2-Chloro-benz-yl)-3-methyl-6-oxo-1,6-di-hydro-pyridazin-1-yl]-N-(4-fluoro-phen-yl)acetamide.
Assila H, Ameziane El Hassani I, El Moutaouakil Ala Allah A, Alsubari A, Mague JT, Ramli Y, Ansar M. Assila H, et al. IUCrdata. 2023 Oct 19;8(Pt 10):x230901. doi: 10.1107/S241431462300901X. eCollection 2023 Oct. IUCrdata. 2023. PMID: 37936589 Free PMC article.
The conformation of the title mol-ecule, C(20)H(17)ClFN(3)O(2), is partly determined by an intra-molecular C-HO hydrogen bond, which leads to a dihedral angle of 14.7 (4) between the fluoro-benzene ring and the acetamide group. ...
The conformation of the title mol-ecule, C(20)H(17)ClFN(3)O(2), is partly determined by an intra-molecular C-HO hydrogen bond, which …
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Manole A, Efthymiou S, O'Connor E, Mendes MI, Jennings M, Maroofian R, Davagnanam I, Mankad K, Lopez MR, Salpietro V, Harripaul R, Badalato L, Walia J, Francklyn CS, Athanasiou-Fragkouli A, Sullivan R, Desai S, Baranano K, Zafar F, Rana N, Ilyas M, Horga A, Kara M, Mattioli F, Goldenberg A, Griffin H, Piton A, Henderson LB, Kara B, Aslanger AD, Raaphorst J, Pfundt R, Portier R, Shinawi M, Kirby A, Christensen KM, Wang L, Rosti RO, Paracha SA, Sarwar MT, Jenkins D; SYNAPS Study Group; Ahmed J, Santoni FA, Ranza E, Iwaszkiewicz J, Cytrynbaum C, Weksberg R, Wentzensen IM, Guillen Sacoto MJ, Si Y, Telegrafi A, Andrews MV, Baldridge D, Gabriel H, Mohr J, Oehl-Jaschkowitz B, Debard S, Senger B, Fischer F, van Ravenwaaij C, Fock AJM, Stevens SJC, Bähler J, Nasar A, Mantovani JF, Manzur A, Sarkozy A, Smith DEC, Salomons GS, Ahmed ZM, Riazuddin S, Riazuddin S, Usmani MA, Seibt A, Ansar M, Antonarakis SE, Vincent JB, Ayub M, Grimmel M, Jelsig AM, Hjortshøj TD, Karstensen HG, Hummel M, Haack TB, Jamshidi Y, Distelmaier F, Horvath R, Gleeson JG, Becker H, Mandel JL, Koolen DA, Houlden H. Manole A, et al. Am J Hum Genet. 2020 Aug 6;107(2):311-324. doi: 10.1016/j.ajhg.2020.06.016. Epub 2020 Jul 31. Am J Hum Genet. 2020. PMID: 32738225 Free PMC article.
262 results