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Results by year

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

Year Number of Results
1993 83
1998 3
1999 5
2000 4
2001 4
2002 3
2003 6
2004 4
2005 6
2006 2
2007 2
2008 5
2009 7
2010 4
2011 3
2012 4
2013 1
2014 5
2015 5
2016 6
2017 11
2018 9
2019 6
2020 16
2021 17
2022 14
2023 22
2024 6

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Similar articles for PMID: 25254289

101 results

Results by year

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Page 1
Perrault Syndrome.
Newman WG, Friedman TB, Conway GS, Demain LAM. Newman WG, et al. 2014 Sep 25 [updated 2018 Sep 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2014 Sep 25 [updated 2018 Sep 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 25254289 Free Books & Documents. Review.
STRC-Related Autosomal Recessive Hearing Loss.
Redfield S, Shearer AE. Redfield S, et al. 2023 Dec 14. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2023 Dec 14. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 38109326 Free Books & Documents. Review.
Expanding the genotypic spectrum of Perrault syndrome.
Demain LA, Urquhart JE, O'Sullivan J, Williams SG, Bhaskar SS, Jenkinson EM, Lourenco CM, Heiberg A, Pearce SH, Shalev SA, Yue WW, Mackinnon S, Munro KJ, Newbury-Ecob R, Becker K, Kim MJ, O' Keefe RT, Newman WG. Demain LA, et al. Clin Genet. 2017 Feb;91(2):302-312. doi: 10.1111/cge.12776. Epub 2016 Apr 1. Clin Genet. 2017. PMID: 26970254
Fanconi Anemia.
Mehta PA, Ebens C. Mehta PA, et al. 2002 Feb 14 [updated 2021 Jun 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2002 Feb 14 [updated 2021 Jun 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301575 Free Books & Documents. Review.
Alström Syndrome.
Paisey RB, Steeds R, Barrett T, Williams D, Geberhiwot T, Gunay-Aygun M. Paisey RB, et al. 2003 Feb 7 [updated 2019 Jun 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2003 Feb 7 [updated 2019 Jun 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301444 Free Books & Documents. Review.
GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss.
Smith RJH, Azaiez H, Booth K. Smith RJH, et al. 1998 Sep 28 [updated 2023 Jul 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 1998 Sep 28 [updated 2023 Jul 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301449 Free Books & Documents. Review.
Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders.
Domínguez-Ruiz M, García-Martínez A, Corral-Juan M, Pérez-Álvarez ÁI, Plasencia AM, Villamar M, Moreno-Pelayo MA, Matilla-Dueñas A, Menéndez-González M, Del Castillo I. Domínguez-Ruiz M, et al. J Transl Med. 2019 Aug 28;17(1):290. doi: 10.1186/s12967-019-2041-x. J Transl Med. 2019. PMID: 31455392 Free PMC article.
TBC1D24-Related Disorders.
Mucha BE, Hennekam RCM, Sisodiya S, Campeau PM. Mucha BE, et al. 2015 Feb 26 [updated 2017 Dec 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2015 Feb 26 [updated 2017 Dec 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 25719194 Free Books & Documents. Review.
101 results