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2023 | 1 |
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Molecular diagnosis of 405 individuals with autism spectrum disorder.
Eur J Hum Genet. 2024 Dec;32(12):1551-1558. doi: 10.1038/s41431-023-01335-7. Epub 2023 Mar 27.
Eur J Hum Genet. 2024.
PMID: 36973392
Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities.
Li S, Takada S, Abdel-Salam GMH, Abdel-Hamid MS, Zaki MS, Issa MY, Salem AMS, Koshimizu E, Fujita A, Fukai R, Ohshima T, Matsumoto N, Miyake N.
Li S, et al.
NPJ Genom Med. 2024 Nov 5;9(1):55. doi: 10.1038/s41525-024-00437-5.
NPJ Genom Med. 2024.
PMID: 39500882
Free PMC article.
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A Unique Case of MBD5 and CCM2 Deletions Leading to a Severe Neurological Phenotype With Prolonged Status Epilepticus.
Silva S, Venegas V, Valenzuela M, Retamales-Moreno Á, Muñoz-Castro C, Acevedo H, Marengo JJ, Okubo M, Takada S, Miyake N.
Silva S, et al.
Clin Genet. 2025 Jan 6. doi: 10.1111/cge.14685. Online ahead of print.
Clin Genet. 2025.
PMID: 39763067
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