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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 85
1998 2
1999 2
2000 2
2001 4
2002 3
2003 7
2004 4
2005 7
2006 4
2007 4
2008 6
2009 3
2010 4
2011 1
2012 7
2013 3
2014 4
2015 4
2016 2
2017 7
2018 9
2019 6
2020 9
2021 14
2022 16
2023 10
2024 15
2025 2

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Related Articles by Review for PMID: 25299038

87 results

Results by year

Filters applied: . Clear all
Page 1
PNPLA6 Disorders.
Synofzik M, Hufnagel RB, Züchner S. Synofzik M, et al. 2014 Oct 9 [updated 2021 Jun 10]. 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 Oct 9 [updated 2021 Jun 10]. 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: 25299038 Free Books & Documents. Review.
PNPLA6 disorders: what's in a name?
Liu J, Hufnagel RB. Liu J, et al. Ophthalmic Genet. 2023 Dec;44(6):530-538. doi: 10.1080/13816810.2023.2254830. Epub 2023 Nov 20. Ophthalmic Genet. 2023. PMID: 37732399 Free PMC article. Review.
SYNE1 Deficiency.
Beaudin M, Gamache PL, Gros-Louis F, Dupré N. Beaudin M, et al. 2007 Feb 23 [updated 2018 Dec 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2007 Feb 23 [updated 2018 Dec 6]. 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: 20301553 Free Books & Documents. Review.
Ataxia-Telangiectasia.
Veenhuis S, van Os N, Weemaes C, Kamsteeg EJ, Willemsen M. Veenhuis S, et al. 1999 Mar 19 [updated 2023 Oct 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 1999 Mar 19 [updated 2023 Oct 5]. 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: 20301790 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.
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, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2003 Aug 11 [updated 2023 Jul 27]. 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: 20301707 Free Books & Documents. Review.
Alpha-Mannosidosis.
Ficicioglu C, Stepien KM. Ficicioglu C, et al. 2001 Oct 11 [updated 2024 Jun 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. 2001 Oct 11 [updated 2024 Jun 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: 20301570 Free Books & Documents. Review.
SLC6A3-Related Dopamine Transporter Deficiency Syndrome.
Spaull RVV, Kurian MA. Spaull RVV, et al. 2017 Jul 27 [updated 2023 Sep 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2017 Jul 27 [updated 2023 Sep 28]. 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: 28749637 Free Books & Documents. Review.
Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency.
Balasubramanian R, Crowley WF Jr. Balasubramanian R, et al. 2007 May 23 [updated 2022 May 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. 2007 May 23 [updated 2022 May 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: 20301509 Free Books & Documents. Review.
PMM2-CDG.
Lam C, Krasnewich DM. Lam C, et al. 2005 Aug 15 [updated 2021 May 20]. 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 Aug 15 [updated 2021 May 20]. 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: 20301289 Free Books & Documents. Review.
87 results