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

Year Number of Results
1982 1
1985 1
1989 1
1990 1
1992 1
1996 1
1997 1
1998 1
2001 1
2004 2
2005 2
2006 1
2007 1
2012 1
2013 2
2014 1
2016 1
2021 1
2022 1
2024 0

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PubMed for id: 1635391

21 results

Results by year

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Page 1
A lethal and rare cause of arthrogryposis: Glyt1 encephalopathy.
Daşar T, Şimşek-Kiper PÖ, Taşkıran EZ, Çağan M, Özyüncü Ö, Deren Ö, Utine GE, Güçer KŞ, Boduroğlu K. Daşar T, et al. Eur J Med Genet. 2022 Dec;65(12):104631. doi: 10.1016/j.ejmg.2022.104631. Epub 2022 Oct 3. Eur J Med Genet. 2022. PMID: 36195292
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. 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.
[Etiology and pathophysiology of benign prostate hyperplasia].
Roosen A, Gratzke C, Herrlemann A, Magistro G, Strittmatter F, Weinhold P, Tritschler S, Stief CG. Roosen A, et al. Urologe A. 2013 Feb;52(2):186-92. doi: 10.1007/s00120-012-3083-3. Urologe A. 2013. PMID: 23370401 Review. German.
Familial episodic ataxia in lambs.
Mayhew IG, Jolly RD, Burnham D, Ridler AI, Poff GJ, Blair HT. Mayhew IG, et al. N Z Vet J. 2013 Mar;61(2):107-10. doi: 10.1080/00480169.2012.717501. Epub 2012 Sep 18. N Z Vet J. 2013. PMID: 22985028
Developmental anomalies of the cervical spine in patients with fibrodysplasia ossificans progressiva are distinctly different from those in patients with Klippel-Feil syndrome: clues from the BMP signaling pathway.
Schaffer AA, Kaplan FS, Tracy MR, O'Brien ML, Dormans JP, Shore EM, Harland RM, Kusumi K. Schaffer AA, et al. Spine (Phila Pa 1976). 2005 Jun 15;30(12):1379-85. doi: 10.1097/01.brs.0000166619.22832.2c. Spine (Phila Pa 1976). 2005. PMID: 15959366
21 results