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Page 1
SETD1B-associated neurodevelopmental disorder.
J Med Genet. 2021 Mar;58(3):196-204. doi: 10.1136/jmedgenet-2019-106756. Epub 2020 Jun 16.
J Med Genet. 2021.
PMID: 32546566
Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions.
Rajan-Babu IS, Peng JJ, Chiu R; IMAGINE Study; CAUSES Study; Li C, Mohajeri A, Dolzhenko E, Eberle MA, Birol I, Friedman JM.
Rajan-Babu IS, et al.
Genome Med. 2021 Aug 9;13(1):126. doi: 10.1186/s13073-021-00932-9.
Genome Med. 2021.
PMID: 34372915
Free PMC article.
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Expression profile of NSDHL in human peripheral tissues.
Morimoto M, Souich Cd, Trinh J, McLarren KW, Boerkoel CF, Hendson G.
Morimoto M, et al. Among authors: souich cd.
J Mol Histol. 2012 Feb;43(1):95-106. doi: 10.1007/s10735-011-9375-x. Epub 2011 Nov 24.
J Mol Histol. 2012.
PMID: 22113624
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Utilization of telehealth in paediatric genome-wide sequencing: Health services implementation issues in the CAUSES Study.
Elliott AM, Dragojlovic N, Campbell T, Adam S, Souich CD, Fryer M, Lehman A, Karnebeek CV, Lynd LD, Friedman JM.
Elliott AM, et al. Among authors: souich cd.
J Telemed Telecare. 2023 May;29(4):318-327. doi: 10.1177/1357633X20982737. Epub 2021 Jan 20.
J Telemed Telecare. 2023.
PMID: 33470133
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The effect of rapid exome sequencing on downstream health care utilization for infants with suspected genetic disorders in an intensive care unit.
Rodriguez Llorian E, Dragojlovic N, Campbell TM, Friedman JM, Osiovich H; RAPIDOMICS Study; Elliott AM, Lynd LD.
Rodriguez Llorian E, et al.
Genet Med. 2022 Aug;24(8):1675-1683. doi: 10.1016/j.gim.2022.04.014. Epub 2022 May 27.
Genet Med. 2022.
PMID: 35622065
Free article.
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