Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

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

Year Number of Results
1965 1
1974 2
1975 1
1976 1
1977 1
1978 1
1980 3
1981 2
1985 3
1986 1
1987 4
1988 3
1989 4
1990 4
1991 6
1992 3
1993 3
1994 5
1995 3
1996 3
1997 2
1998 2
1999 1
2000 3
2001 1
2002 3
2003 2
2004 4
2005 5
2006 7
2007 1
2009 2
2010 3
2011 5
2012 7
2013 11
2014 6
2015 14
2016 10
2017 14
2018 8
2019 9
2020 25
2021 28
2022 23
2023 14
2024 29
2025 9

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

273 results

Results by year

Filters applied: . Clear all
Page 1
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
van der Spek J, den Hoed J, Snijders Blok L, Dingemans AJM, Schijven D, Nellaker C, Venselaar H, Astuti GDN, Barakat TS, Bebin EM, Beck-Wödl S, Beunders G, Brown NJ, Brunet T, Brunner HG, Campeau PM, Čuturilo G, Gilissen C, Haack TB, Hüning I, Husain RA, Kamien B, Lim SC, Lovrecic L, Magg J, Maver A, Miranda V, Monteil DC, Ockeloen CW, Pais LS, Plaiasu V, Raiti L, Richmond C, Rieß A, Schwaibold EMC, Simon MEH, Spranger S, Tan TY, Thompson ML, de Vries BBA, Wilkins EJ, Willemsen MH, Francks C, Vissers LELM, Fisher SE, Kleefstra T. van der Spek J, et al. Among authors: husain ra. Genet Med. 2022 Jun;24(6):1283-1296. doi: 10.1016/j.gim.2022.02.014. Epub 2022 Mar 26. Genet Med. 2022. PMID: 35346573 Free article.
[Tuberous sclerosis complex].
Glutig K, Husain R, Renz D, John-Kroegel U, Mentzel HJ. Glutig K, et al. Among authors: husain r. Radiologie (Heidelb). 2022 Dec;62(12):1058-1066. doi: 10.1007/s00117-022-01053-z. Epub 2022 Aug 9. Radiologie (Heidelb). 2022. PMID: 35945379 Review. German.
A multicenter, randomized, placebo-controlled, double-blind phase 3 trial with open-arm comparison indicates safety and efficacy of nephroprotective therapy with ramipril in children with Alport's syndrome.
Gross O, Tönshoff B, Weber LT, Pape L, Latta K, Fehrenbach H, Lange-Sperandio B, Zappel H, Hoyer P, Staude H, König S, John U, Gellermann J, Hoppe B, Galiano M, Hoecker B, Ehren R, Lerch C, Kashtan CE, Harden M, Boeckhaus J, Friede T; German Pediatric Nephrology (GPN) Study Group and EARLY PRO-TECT Alport Investigators. Gross O, et al. Kidney Int. 2020 Jun;97(6):1275-1286. doi: 10.1016/j.kint.2019.12.015. Epub 2020 Jan 17. Kidney Int. 2020. PMID: 32299679 Free article. Clinical Trial.
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
Schwartz O, Vill K, Pfaffenlehner M, Behrens M, Weiß C, Johannsen J, Friese J, Hahn A, Ziegler A, Illsinger S, Smitka M, von Moers A, Kölbel H, Schreiber G, Kaiser N, Wilichowski E, Flotats-Bastardas M, Husain RA, Baumann M, Köhler C, Trollmann R, Schwerin-Nagel A, Eisenkölbl A, Schimmel M, Fleger M, Kauffmann B, Wiegand G, Baumgartner M, Rauscher C, Cirak S, Gläser D, Bernert G, Hagenacker T, Goldbach S, Probst-Schendzielorz K, Lochmüller H, Müller-Felber W, Schara-Schmidt U, Walter MC, Kirschner J, Pechmann A; SMARTCARE study group. Schwartz O, et al. Among authors: husain ra. JAMA Pediatr. 2024 Jun 1;178(6):540-547. doi: 10.1001/jamapediatrics.2024.0492. JAMA Pediatr. 2024. PMID: 38587854 Free PMC article. Clinical Trial.
Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study.
Weiß C, Becker LL, Friese J, Blaschek A, Hahn A, Illsinger S, Schwartz O, Bernert G, Hagen MV, Husain RA, Goldhahn K, Kirschner J, Pechmann A, Flotats-Bastardas M, Schreiber G, Schara U, Plecko B, Trollmann R, Horber V, Wilichowski E, Baumann M, Klein A, Eisenkölbl A, Köhler C, Stettner GM, Cirak S, Hasselmann O, Kaindl AM, Garbade SF, Johannsen J, Ziegler A; SMArtCARE and Swiss-Reg-NMD study group. Weiß C, et al. Among authors: husain ra. Lancet Reg Health Eur. 2024 Oct 7;47:101092. doi: 10.1016/j.lanepe.2024.101092. eCollection 2024 Dec. Lancet Reg Health Eur. 2024. PMID: 39434961 Free PMC article.
Response to Leidi et al.
Vanderver A, Husain RA. Vanderver A, et al. Among authors: husain ra. Genet Med. 2022 May;24(5):1154-1155. doi: 10.1016/j.gim.2022.01.011. Epub 2022 Feb 15. Genet Med. 2022. PMID: 35177333 Free article. No abstract available.
Cold-induced injury reaction.
Duncan MT, Husain R, Raman A, Johgalingam VT. Duncan MT, et al. Among authors: husain r. Lancet. 1989 Nov 4;2(8671):1108-9. doi: 10.1016/s0140-6736(89)91132-x. Lancet. 1989. PMID: 2572840 No abstract available.
Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma.
Khor CC, Do T, Jia H, Nakano M, George R, Abu-Amero K, Duvesh R, Chen LJ, Li Z, Nongpiur ME, Perera SA, Qiao C, Wong HT, Sakai H, Barbosa de Melo M, Lee MC, Chan AS, Azhany Y, Dao TL, Ikeda Y, Perez-Grossmann RA, Zarnowski T, Day AC, Jonas JB, Tam PO, Tran TA, Ayub H, Akhtar F, Micheal S, Chew PT, Aljasim LA, Dada T, Luu TT, Awadalla MS, Kitnarong N, Wanichwecharungruang B, Aung YY, Mohamed-Noor J, Vijayan S, Sarangapani S, Husain R, Jap A, Baskaran M, Goh D, Su DH, Wang H, Yong VK, Yip LW, Trinh TB, Makornwattana M, Nguyen TT, Leuenberger EU, Park KH, Wiyogo WA, Kumar RS, Tello C, Kurimoto Y, Thapa SS, Pathanapitoon K, Salmon JF, Sohn YH, Fea A, Ozaki M, Lai JS, Tantisevi V, Khaing CC, Mizoguchi T, Nakano S, Kim CY, Tang G, Fan S, Wu R, Meng H, Nguyen TT, Tran TD, Ueno M, Martinez JM, Ramli N, Aung YM, Reyes RD, Vernon SA, Fang SK, Xie Z, Chen XY, Foo JN, Sim KS, Wong TT, Quek DT, Venkatesh R, Kavitha S, Krishnadas SR, Soumittra N, Shantha B, Lim BA, Ogle J, de Vasconcellos JP, Costa VP, Abe RY, de Souza BB, Sng CC, Aquino MC, Kosior-Jarecka E, Fong GB, Tamanaja VC, Fujita R, Jiang Y, Waseem N, Low S, Pham HN, Al-Shahwan S, Craven ER, Khan MI, Dada R, Mohanty K, Faiq MA, H… See abstract for full author list ➔ Khor CC, et al. Among authors: husain r. Nat Genet. 2016 May;48(5):556-62. doi: 10.1038/ng.3540. Epub 2016 Apr 4. Nat Genet. 2016. PMID: 27064256 Free article.
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Richard EM, Bakhtiari S, Marsh APL, Kaiyrzhanov R, Wagner M, Shetty S, Pagnozzi A, Nordlie SM, Guida BS, Cornejo P, Magee H, Liu J, Norton BY, Webster RI, Worgan L, Hakonarson H, Li J, Guo Y, Jain M, Blesson A, Rodan LH, Abbott MA, Comi A, Cohen JS, Alhaddad B, Meitinger T, Lenz D, Ziegler A, Kotzaeridou U, Brunet T, Chassevent A, Smith-Hicks C, Ekstein J, Weiden T, Hahn A, Zharkinbekova N, Turnpenny P, Tucci A, Yelton M, Horvath R, Gungor S, Hiz S, Oktay Y, Lochmuller H, Zollino M, Morleo M, Marangi G, Nigro V, Torella A, Pinelli M, Amenta S, Husain RA, Grossmann B, Rapp M, Steen C, Marquardt I, Grimmel M, Grasshoff U, Korenke GC, Owczarek-Lipska M, Neidhardt J, Radio FC, Mancini C, Claps Sepulveda DJ, McWalter K, Begtrup A, Crunk A, Guillen Sacoto MJ, Person R, Schnur RE, Mancardi MM, Kreuder F, Striano P, Zara F, Chung WK, Marks WA, van Eyk CL, Webber DL, Corbett MA, Harper K, Berry JG, MacLennan AH, Gecz J, Tartaglia M, Salpietro V, Christodoulou J, Kaslin J, Padilla-Lopez S, Bilguvar K, Munchau A, Ahmed ZM, Hufnagel RB, Fahey MC, Maroofian R, Houlden H, Sticht H, Mane SM, Rad A, Vona B, Jin SC, Haack TB, Makowski C, Hirsch Y, Riazuddin S, Kruer MC. Richard EM, et al. Among authors: husain ra. Am J Hum Genet. 2021 Oct 7;108(10):2006-2016. doi: 10.1016/j.ajhg.2021.08.003. Am J Hum Genet. 2021. PMID: 34626583 Free PMC article.
273 results