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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2005 | 1 |
2019 | 2 |
2020 | 3 |
2021 | 2 |
2024 | 0 |
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7 results
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Page 1
FOXR1 regulates stress response pathways and is necessary for proper brain development.
PLoS Genet. 2021 Nov 1;17(11):e1009854. doi: 10.1371/journal.pgen.1009854. eCollection 2021 Nov.
PLoS Genet. 2021.
PMID: 34723967
Free PMC article.
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.
Schoch K, Esteves C, Bican A, Spillmann R, Cope H, McConkie-Rosell A, Walley N, Fernandez L, Kohler JN, Bonner D, Reuter C, Stong N, Mulvihill JJ, Novacic D, Wolfe L, Abdelbaki A, Toro C, Tifft C, Malicdan M, Gahl W, Liu P, Newman J, Goldstein DB, Hom J, Sampson J, Wheeler MT; Undiagnosed Diseases Network; Cogan J, Bernstein JA, Adams DR, McCray AT, Shashi V.
Schoch K, et al.
Genet Med. 2021 Feb;23(2):259-271. doi: 10.1038/s41436-020-00984-z. Epub 2020 Oct 23.
Genet Med. 2021.
PMID: 33093671
Free PMC article.
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Elevated plasma free sialic acid levels in individuals with reduced glomerular filtration rates.
Fuentes F, Carrillo N, Wilkins KJ, Blake J, Leoyklang P, Gahl WA, Kopp JB, Huizing M.
Fuentes F, et al.
Kidney360. 2020 Sep 24;1(9):957-961. doi: 10.34067/kid.0002122020.
Kidney360. 2020.
PMID: 33969317
Free PMC article.
No abstract available.
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A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings.
Gu F, Wu A, Gordon MG, Vlahos L, Macnamara S, Burke E, Malicdan MC, Adams DR, Tifft CJ, Toro C, Gahl WA, Markello TC.
Gu F, et al.
Genet Med. 2019 Aug;21(8):1772-1780. doi: 10.1038/s41436-019-0434-0. Epub 2019 Jan 31.
Genet Med. 2019.
PMID: 30700791
Free PMC article.
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Nephropathic Cystinosis: A Distinct Form of CKD-Mineral and Bone Disorder that Provides Novel Insights into the Regulation of FGF23.
Florenzano P, Jimenez M, Ferreira CR, Nesterova G, Roberts MS, Tella SH, Fernandez de Castro L, Gafni RI, Wolf M, Jüppner H, Gales B, Wesseling-Perry K, Markovich D, Gahl WA, Salusky IB, Collins MT.
Florenzano P, et al.
J Am Soc Nephrol. 2020 Sep;31(9):2184-2192. doi: 10.1681/ASN.2019111172. Epub 2020 Jul 6.
J Am Soc Nephrol. 2020.
PMID: 32631973
Free PMC article.
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Twenty-four-hour motor activity and body temperature patterns suggest altered central circadian timekeeping in Smith-Magenis syndrome, a neurodevelopmental disorder.
Smith ACM, Morse RS, Introne W, Duncan WC Jr.
Smith ACM, et al.
Am J Med Genet A. 2019 Feb;179(2):224-236. doi: 10.1002/ajmg.a.61003.
Am J Med Genet A. 2019.
PMID: 30690916
Free PMC article.
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The Adult Mouse Anatomical Dictionary: a tool for annotating and integrating data.
Hayamizu TF, Mangan M, Corradi JP, Kadin JA, Ringwald M.
Hayamizu TF, et al.
Genome Biol. 2005;6(3):R29. doi: 10.1186/gb-2005-6-3-r29. Epub 2005 Feb 15.
Genome Biol. 2005.
PMID: 15774030
Free PMC article.
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