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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 89
1998 1
1999 2
2000 6
2001 5
2002 4
2003 5
2004 6
2005 6
2006 6
2007 5
2008 4
2009 7
2010 4
2011 1
2012 4
2013 6
2014 6
2015 5
2016 5
2017 6
2018 5
2019 5
2020 10
2021 15
2022 19
2023 29
2024 7

Text availability

Article attribute

Article type

Publication date

Similar articles for PMID: 20301771

101 results

Results by year

Filters applied: . Clear all
Page 1
Spondylocostal Dysostosis, Autosomal Recessive.
Turnpenny PD, Sloman M, Dunwoodie S. Turnpenny PD, et al. 2009 Aug 25 [updated 2023 Aug 17]. 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. 2009 Aug 25 [updated 2023 Aug 17]. 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: 20301771 Free Books & Documents. Review.
Collagen VI-Related Dystrophies.
Foley AR, Mohassel P, Donkervoort S, Bolduc V, Bönnemann CG. Foley AR, et al. 2004 Jun 25 [updated 2021 Mar 11]. 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. 2004 Jun 25 [updated 2021 Mar 11]. 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: 20301676 Free Books & Documents. Review.
Identification of novel LFNG mutations in spondylocostal dysostosis.
Otomo N, Mizumoto S, Lu HF, Takeda K, Campos-Xavier B, Mittaz-Crettol L, Guo L, Takikawa K, Nakamura M, Yamada S, Matsumoto M, Watanabe K, Ikegawa S. Otomo N, et al. J Hum Genet. 2019 Mar;64(3):261-264. doi: 10.1038/s10038-018-0548-2. Epub 2018 Dec 10. J Hum Genet. 2019. PMID: 30531807
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3.
Lecca M, Bedeschi MF, Izzi C, Dordoni C, Rinaldi B, Peluso F, Caraffi SG, Prefumo F, Signorelli M, Zanzucchi M, Bione S, Ghigna C, Sassi S, Novelli A, Valente EM, Superti-Furga A, Garavelli L, Errichiello E. Lecca M, et al. Clin Genet. 2023 Aug;104(2):230-237. doi: 10.1111/cge.14336. Epub 2023 Apr 10. Clin Genet. 2023. PMID: 37038048
Calpainopathy.
Angelini C. Angelini C. 2005 May 10 [updated 2022 Dec 1]. 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. 2005 May 10 [updated 2022 Dec 1]. 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: 20301490 Free Books & Documents. Review.
Noonan Syndrome.
Roberts AE. Roberts AE. 2001 Nov 15 [updated 2022 Feb 17]. 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. 2001 Nov 15 [updated 2022 Feb 17]. 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: 20301303 Free Books & Documents. Review.
Hypohidrotic Ectodermal Dysplasia.
Wright JT, Grange DK, Fete M. Wright JT, et al. 2003 Apr 28 [updated 2022 Oct 27]. 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 Apr 28 [updated 2022 Oct 27]. 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: 20301291 Free Books & Documents. Review.
Megalencephalic Leukoencephalopathy with Subcortical Cysts.
Min R, Abbink TEM, van der Knaap MS. Min R, et al. 2003 Aug 11 [updated 2023 Jul 27]. 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 Aug 11 [updated 2023 Jul 27]. 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: 20301707 Free Books & Documents. Review.
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.
101 results