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

Year Number of Results
1957 1
1992 2
1993 3
1995 3
1996 3
1997 1
1998 1
1999 1
2000 2
2001 3
2002 2
2003 4
2004 6
2005 3
2006 3
2007 2
2008 6
2009 2
2010 7
2011 10
2012 6
2013 5
2014 7
2015 9
2016 7
2017 8
2018 10
2019 8
2020 10
2021 8
2022 12
2023 7
2024 1

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Search Results

133 results

Results by year

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Page 1
Phenylalanine hydroxylase deficiency: diagnosis and management guideline.
Vockley J, Andersson HC, Antshel KM, Braverman NE, Burton BK, Frazier DM, Mitchell J, Smith WE, Thompson BH, Berry SA; American College of Medical Genetics and Genomics Therapeutics Committee. Vockley J, et al. Among authors: braverman ne. Genet Med. 2014 Feb;16(2):188-200. doi: 10.1038/gim.2013.157. Epub 2013 Oct 10. Genet Med. 2014. PMID: 24385074 Free article.
Zellweger Spectrum Disorder.
Steinberg SJ, Raymond GV, Braverman NE, Moser AB. Steinberg SJ, et al. Among authors: braverman ne. 2003 Dec 12 [updated 2020 Oct 29]. 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 Dec 12 [updated 2020 Oct 29]. 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: 20301621 Free Books & Documents. Review.
Chondrodysplasia Punctata 1, X-Linked.
Braverman NE, Bober MB, Brunetti-Pierri N, Suchy SF. Braverman NE, et al. 2008 Apr 22 [updated 2020 Oct 15]. 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. 2008 Apr 22 [updated 2020 Oct 15]. 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: 20301713 Free Books & Documents. Review.
Rhizomelic Chondrodysplasia Punctata Type 1.
Braverman NE, Steinberg SJ, Fallatah W, Duker A, Bober MB. Braverman NE, et al. 2001 Nov 16 [updated 2020 Jan 30]. 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 16 [updated 2020 Jan 30]. 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: 20301447 Free Books & Documents. Review.
Peroxisome biogenesis disorders.
Argyriou C, D'Agostino MD, Braverman N. Argyriou C, et al. Among authors: braverman n. Transl Sci Rare Dis. 2016 Nov 7;1(2):111-144. doi: 10.3233/TRD-160003. Transl Sci Rare Dis. 2016. PMID: 29152457 Free PMC article. No abstract available.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schröter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das AM, Darin N, Della Marina A, Distelmaier F, Eklund EA, Ersoy M, Fang W, Gaignard P, Ganetzky RD, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis MG, Morrison K, Müller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rötig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor RW, Thorburn DR, Teles EL, Wang JS, Weghuber D, Wortmannd S. Vogel GF, et al. Among authors: braverman n. Genet Med. 2023 Jun;25(6):100828. doi: 10.1016/j.gim.2023.100828. Epub 2023 Apr 13. Genet Med. 2023. PMID: 37272928 Free article. No abstract available.
Peroxisome biogenesis disorders.
Steinberg SJ, Dodt G, Raymond GV, Braverman NE, Moser AB, Moser HW. Steinberg SJ, et al. Among authors: braverman ne. Biochim Biophys Acta. 2006 Dec;1763(12):1733-48. doi: 10.1016/j.bbamcr.2006.09.010. Epub 2006 Sep 14. Biochim Biophys Acta. 2006. PMID: 17055079 Free article. Review.
Disease specific therapies in leukodystrophies and leukoencephalopathies.
Helman G, Van Haren K, Bonkowsky JL, Bernard G, Pizzino A, Braverman N, Suhr D, Patterson MC, Ali Fatemi S, Leonard J, van der Knaap MS, Back SA, Damiani S, Goldman SA, Takanohashi A, Petryniak M, Rowitch D, Messing A, Wrabetz L, Schiffmann R, Eichler F, Escolar ML, Vanderver A; GLIA Consortium. Helman G, et al. Among authors: braverman n. Mol Genet Metab. 2015 Apr;114(4):527-36. doi: 10.1016/j.ymgme.2015.01.014. Epub 2015 Feb 7. Mol Genet Metab. 2015. PMID: 25684057 Free PMC article.
Disorders of peroxisome biogenesis.
Braverman N, Dodt G, Gould SJ, Valle D. Braverman N, et al. Hum Mol Genet. 1995;4 Spec No:1791-8. doi: 10.1093/hmg/4.suppl_1.1791. Hum Mol Genet. 1995. PMID: 8541879 Review.
133 results