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

Filters

My Custom Filters

Results by year

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

Year Number of Results
1993 100
1998 6
1999 4
2000 11
2001 6
2002 5
2003 6
2004 7
2005 6
2006 6
2007 6
2008 10
2009 3
2010 4
2011 1
2012 4
2013 4
2014 4
2015 3
2017 6
2018 2
2019 3
2020 6
2021 14
2022 20
2023 21
2024 24
2025 3

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Similar articles for PMID: 20301564

101 results

Results by year

Filters applied: . Clear all
Page 1
SPTLC1-Related Hereditary Sensory Neuropathy.
Nicholson GA. Nicholson GA. 2002 Sep 23 [updated 2021 Dec 2]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2002 Sep 23 [updated 2021 Dec 2]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301564 Free Books & Documents. Review.
Acute Intermittent Porphyria.
Sardh E, Barbaro M. Sardh E, et al. 2005 Sep 27 [updated 2024 Feb 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2005 Sep 27 [updated 2024 Feb 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301372 Free Books & Documents. Review.
MFN2 Hereditary Motor and Sensory Neuropathy.
Züchner S. Züchner S. 2005 Feb 18 [updated 2020 May 14]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2005 Feb 18 [updated 2020 May 14]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301684 Free Books & Documents. Review.
Variegate Porphyria.
Singal AK, Anderson KE. Singal AK, et al. 2013 Feb 14 [updated 2019 Dec 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2013 Feb 14 [updated 2019 Dec 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 23409300 Free Books & Documents. Review.
Familial Hypercholesterolemia.
Ison HE, Clarke SL, Knowles JW. Ison HE, et al. 2014 Jan 2 [updated 2025 Jan 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2014 Jan 2 [updated 2025 Jan 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 24404629 Free Books & Documents. Review.
Loeys-Dietz Syndrome.
Loeys BL, Dietz HC. Loeys BL, et al. 2008 Feb 28 [updated 2024 Sep 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2008 Feb 28 [updated 2024 Sep 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301312 Free Books & Documents. Review.
Hereditary Sensory and Autonomic Neuropathy Type II.
Kurth I. Kurth I. 2010 Nov 23 [updated 2021 Apr 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2010 Nov 23 [updated 2021 Apr 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 21089229 Free Books & Documents. Review.
COL1A1/2 Osteogenesis Imperfecta.
Steiner RD, Basel D. Steiner RD, et al. 2005 Jan 28 [updated 2024 Mar 14]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2005 Jan 28 [updated 2024 Mar 14]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301472 Free Books & Documents. Review.
Dystrophic Epidermolysis Bullosa.
Pfendner EG, Lucky AW. Pfendner EG, et al. 2006 Aug 21 [updated 2018 Sep 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2006 Aug 21 [updated 2018 Sep 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301481 Free Books & Documents. Review.
Epidermolysis Bullosa Simplex.
So JY, Teng J. So JY, et al. 1998 Oct 7 [updated 2022 Aug 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 1998 Oct 7 [updated 2022 Aug 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301543 Free Books & Documents. Review.
101 results