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Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8.
Mov Disord. 2024 Jan;39(1):164-172. doi: 10.1002/mds.29654. Epub 2023 Nov 22.
Mov Disord. 2024.
PMID: 37994247
Long-read Nanopore sequencing identified D4Z4 contractions in patients with facioscapulohumeral muscular dystrophy.
Yeetong P, Kulsirichawaroj P, Kumutpongpanich T, Srichomthong C, Od-Ek P, Rakwongkhachon S, Thamcharoenvipas T, Sanmaneechai O, Pongpanich M, Shotelersuk V.
Yeetong P, et al. Among authors: rakwongkhachon s.
Neuromuscul Disord. 2023 Jul;33(7):551-556. doi: 10.1016/j.nmd.2023.05.004. Epub 2023 May 13.
Neuromuscul Disord. 2023.
PMID: 37320968
Free article.
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Neurodevelopmental Disorder, Obesity, Pancytopenia, Diabetes Mellitus, Cirrhosis, and Renal Failure in ACBD6-Associated Syndrome: A Case Report.
Yeetong P, Tanpowpong N, Rakwongkhachon S, Suphapeetiporn K, Shotelersuk V.
Yeetong P, et al. Among authors: rakwongkhachon s.
Neurol Genet. 2022 Nov 29;9(1):e200046. doi: 10.1212/NXG.0000000000200046. eCollection 2023 Feb.
Neurol Genet. 2022.
PMID: 36457943
Free PMC article.
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