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SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability.
Roychaudhury A, Lee YR, Choi TI, Thomas MG, Khan TN, Yousaf H, Skinner C, Maconachie G, Crosier M, Horak H, Constantinescu CS, Kim TY, Lee KH, Kyung JJ, Wang T, Ku B, Chodirker BN, Hammer MF, Gottlob I, Norton WHJ, Gerlai R, Kim HG, Graziano C, Pippucci T, Iovino E, Montanari F, Severi G, Toro C, Boerkoel CF, Cha HS, Choi CY, Kim S, Yoon JH, Gilmore K, Vora NL, Davis EE, Chudley AE, Schwartz CE, Kim CH. Roychaudhury A, et al. Among authors: kim hg, kim ty, kim ch, kim s. Ann Neurol. 2024 Nov;96(5):914-931. doi: 10.1002/ana.27037. Epub 2024 Jul 29. Ann Neurol. 2024. PMID: 39073169 Free article.
Analysis of Cytogenetic Abnormalities in Iranian Patients with Syndromic Autism Spectrum Disorder: A Case Series.
Ghasemi MR, Zargari P, Sadeghi H, Bagheri S, Sadeghgi B, Mirfakhraie R, Ekrami M, Mohammadi Sarvaleh S, Hashemi Gorji F, Razjouyan K, Omrani D, Kim HG, Miryounesi M. Ghasemi MR, et al. Among authors: kim hg. Iran J Child Neurol. 2022 Spring;16(2):117-128. doi: 10.22037/ijcn.v16i4.34843. Epub 2022 Mar 14. Iran J Child Neurol. 2022. PMID: 35497098 Free PMC article.
Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly.
Uctepe E, Vona B, Esen FN, Sonmez FM, Smol T, Tümer S, Mancılar H, Geylan Durgun DE, Boute O, Moghbeli M, Ghayoor Karimiani E, Hashemi N, Bakhshoodeh B, Kim HG, Maroofian R, Yesilyurt A. Uctepe E, et al. Among authors: kim hg. Eur J Hum Genet. 2024 Jan;32(1):52-60. doi: 10.1038/s41431-023-01461-2. Epub 2023 Oct 26. Eur J Hum Genet. 2024. PMID: 37880421 Free PMC article.
Single Extracellular Vesicle Analysis Using Flow Cytometry for Neurological Disorder Biomarkers.
Ali Moussa HY, Manaph N, Ali G, Maacha S, Shin KC, Ltaief SM, Gupta V, Tong Y, Ponraj J, Salloum-Asfar S, Mansour S, Al-Shaban FA, Kim HG, Stanton LW, Grivel JC, Abdulla SA, Al-Shammari AR, Park Y. Ali Moussa HY, et al. Among authors: kim hg. Front Integr Neurosci. 2022 May 17;16:879832. doi: 10.3389/fnint.2022.879832. eCollection 2022. Front Integr Neurosci. 2022. PMID: 35655952 Free PMC article.
1,988 results