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

Year Number of Results
1982 3
1990 1
1991 1
1992 4
1993 8
1995 1
1996 2
1998 3
2000 4
2001 5
2002 5
2003 4
2004 4
2005 5
2006 13
2007 3
2008 5
2009 2
2010 7
2011 6
2012 9
2013 12
2014 6
2015 5
2016 4
2017 7
2018 6
2019 8
2020 4
2021 4
2022 6
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Search Results

135 results
Results by year
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Page 1
Neurodegeneration with brain iron accumulation.
Hayflick SJ, Kurian MA, Hogarth P. Hayflick SJ, et al. Handb Clin Neurol. 2018;147:293-305. doi: 10.1016/B978-0-444-63233-3.00019-1. Handb Clin Neurol. 2018. PMID: 29325618 Free PMC article. Review.
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Cif L, Demailly D, Lin JP, Barwick KE, Sa M, Abela L, Malhotra S, Chong WK, Steel D, Sanchis-Juan A, Ngoh A, Trump N, Meyer E, Vasques X, Rankin J, Allain MW, Applegate CD, Attaripour Isfahani S, Baleine J, Balint B, Bassetti JA, Baple EL, Bhatia KP, Blanchet C, Burglen L, Cambonie G, Seng EC, Bastaraud SC, Cyprien F, Coubes C, d'Hardemare V; Deciphering Developmental Disorders Study, Doja A, Dorison N, Doummar D, Dy-Hollins ME, Farrelly E, Fitzpatrick DR, Fearon C, Fieg EL, Fogel BL, Forman EB, Fox RG; Genomics England Research Consortium, Gahl WA, Galosi S, Gonzalez V, Graves TD, Gregory A, Hallett M, Hasegawa H, Hayflick SJ, Hamosh A, Hully M, Jansen S, Jeong SY, Krier JB, Krystal S, Kumar KR, Laurencin C, Lee H, Lesca G, François LL, Lynch T, Mahant N, Martinez-Agosto JA, Milesi C, Mills KA, Mondain M, Morales-Briceno H; NIHR BioResource, Ostergaard JR, Pal S, Pallais JC, Pavillard F, Perrigault PF, Petersen AK, Polo G, Poulen G, Rinne T, Roujeau T, Rogers C, Roubertie A, Sahagian M, Schaefer E, Selim L, Selway R, Sharma N, Signer R, Soldatos AG, Stevenson DA, Stewart F, Tchan M; Undiagnosed Diseases Network, Verma IC, de Vries BBA, Wilson JL, Wong DA, Zaitoun R, Zhen D, Znaczko A, Dale RC, de Gusmão CM, Friedman J, Fung VSC, King MD, Mohammad SS, Rohena L, Waugh JL, Toro C, Raymond FL, Topf M, Coubes P, Gorman KM, Kurian MA. Cif L, et al. Among authors: hayflick sj. Brain. 2020 Dec 5;143(11):3242-3261. doi: 10.1093/brain/awaa304. Brain. 2020. PMID: 33150406 Free PMC article.
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Yépez VA, Gusic M, Kopajtich R, Mertes C, Smith NH, Alston CL, Ban R, Beblo S, Berutti R, Blessing H, Ciara E, Distelmaier F, Freisinger P, Häberle J, Hayflick SJ, Hempel M, Itkis YS, Kishita Y, Klopstock T, Krylova TD, Lamperti C, Lenz D, Makowski C, Mosegaard S, Müller MF, Muñoz-Pujol G, Nadel A, Ohtake A, Okazaki Y, Procopio E, Schwarzmayr T, Smet J, Staufner C, Stenton SL, Strom TM, Terrile C, Tort F, Van Coster R, Vanlander A, Wagner M, Xu M, Fang F, Ghezzi D, Mayr JA, Piekutowska-Abramczuk D, Ribes A, Rötig A, Taylor RW, Wortmann SB, Murayama K, Meitinger T, Gagneur J, Prokisch H. Yépez VA, et al. Among authors: hayflick sj. Genome Med. 2022 Apr 5;14(1):38. doi: 10.1186/s13073-022-01019-9. Genome Med. 2022. PMID: 35379322 Free PMC article.
SLC39A14 Deficiency.
Tuschl K, Gregory A, Meyer E, Clayton PT, Hayflick SJ, Mills PB, Kurian MA. Tuschl K, et al. Among authors: hayflick sj. 2017 May 25. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2017 May 25. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 28541650 Free Books & Documents. Review.
MECR-Related Neurologic Disorder.
Heimer G, Gregory A, Hogarth P, Hayflick S, Ben Zeev B. Heimer G, et al. Among authors: hayflick s. 2019 May 9. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2019 May 9. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 31070877 Free Books & Documents. Review.
Pantothenate Kinase-Associated Neurodegeneration.
Gregory A, Hayflick SJ. Gregory A, et al. Among authors: hayflick sj. 2002 Aug 13 [updated 2017 Aug 3]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2002 Aug 13 [updated 2017 Aug 3]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 20301663 Free Books & Documents. Review.
Mitochondrial Membrane Protein-Associated Neurodegeneration.
Gregory A, Klopstock T, Kmiec T, Hogarth P, Hayflick SJ. Gregory A, et al. Among authors: hayflick sj. 2014 Feb 27 [updated 2021 Mar 4]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2014 Feb 27 [updated 2021 Mar 4]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 24575447 Free Books & Documents. Review.
Fatty Acid Hydroxylase-Associated Neurodegeneration.
Gregory A, Venkateswaran S, Hayflick SJ. Gregory A, et al. Among authors: hayflick sj. 2011 Jun 28 [updated 2018 Sep 27]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2011 Jun 28 [updated 2018 Sep 27]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 21735565 Free Books & Documents. Review.
PKAN pathogenesis and treatment.
Hayflick SJ, Jeong SY, Sibon OCM. Hayflick SJ, et al. Mol Genet Metab. 2022 Nov;137(3):283-291. doi: 10.1016/j.ymgme.2022.09.011. Epub 2022 Oct 5. Mol Genet Metab. 2022. PMID: 36240582 Review.
135 results