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Comprehensive genotyping of the C9orf72 hexanucleotide repeat region in 2095 ALS samples from the NINDS collection using a two-mode, long-read PCR assay.
Amyotroph Lateral Scler Frontotemporal Degener. 2019 Feb;20(1-2):107-114. doi: 10.1080/21678421.2018.1522353. Epub 2018 Nov 15.
Amyotroph Lateral Scler Frontotemporal Degener. 2019.
PMID: 30430876
Free PMC article.
A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments.
Budimirovic DB, Schlageter A, Filipovic-Sadic S, Protic DD, Bram E, Mahone EM, Nicholson K, Culp K, Javanmardi K, Kemppainen J, Hadd A, Sharp K, Adayev T, LaFauci G, Dobkin C, Zhou L, Brown WT, Berry-Kravis E, Kaufmann WE, Latham GJ.
Budimirovic DB, et al. Among authors: culp k.
Brain Sci. 2020 Sep 30;10(10):694. doi: 10.3390/brainsci10100694.
Brain Sci. 2020.
PMID: 33008014
Free PMC article.
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