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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2018 28
2019 90
2020 138
2021 104
2022 111
2023 101
2024 33

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PubMed for id: 480111

500 results

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Page 1
TUBGCP4 - associated microcephaly and chorioretinopathy.
Da Palma MM, Motta FL, Takitani GEDS, Salles MV, Lima LH, Ferraz Sallum JM. Da Palma MM, et al. Ophthalmic Genet. 2020 Apr;41(2):189-193. doi: 10.1080/13816810.2020.1747084. Epub 2020 Apr 9. Ophthalmic Genet. 2020. PMID: 32270730
DHCR7 links cholesterol synthesis with neuronal development and axonal integrity.
Miyazaki S, Shimizu N, Miyahara H, Teranishi H, Umeda R, Yano S, Shimada T, Shiraishi H, Komiya K, Katoh A, Yoshimura A, Hanada R, Hanada T. Miyazaki S, et al. Biochem Biophys Res Commun. 2024 Jun 18;712-713:149932. doi: 10.1016/j.bbrc.2024.149932. Epub 2024 Apr 12. Biochem Biophys Res Commun. 2024. PMID: 38626530 Free article.
The CB1 receptor interacts with cereblon and drives cereblon deficiency-associated memory shortfalls.
Costas-Insua C, Hermoso-López A, Moreno E, Montero-Fernández C, Álvaro-Blázquez A, Maroto IB, Sánchez-Ruiz A, Diez-Alarcia R, Blázquez C, Morales P, Canela EI, Casadó V, Urigüen L, Perea G, Bellocchio L, Rodríguez-Crespo I, Guzmán M. Costas-Insua C, et al. EMBO Mol Med. 2024 Apr;16(4):755-783. doi: 10.1038/s44321-024-00054-w. Epub 2024 Mar 21. EMBO Mol Med. 2024. PMID: 38514794 Free PMC article.
Leukodystrophy Imaging: Insights for Diagnostic Dilemmas.
Thakkar RN, Patel D, Kioutchoukova IP, Al-Bahou R, Reddy P, Foster DT, Lucke-Wold B. Thakkar RN, et al. Med Sci (Basel). 2024 Jan 25;12(1):7. doi: 10.3390/medsci12010007. Med Sci (Basel). 2024. PMID: 38390857 Free PMC article. Review.
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.
Werren EA, LaForce GR, Srivastava A, Perillo DR, Li S, Johnson K, Baris S, Berger B, Regan SL, Pfennig CD, de Munnik S, Pfundt R, Hebbar M, Jimenez-Heredia R, Karakoc-Aydiner E, Ozen A, Dmytrus J, Krolo A, Corning K, Prijoles EJ, Louie RJ, Lebel RR, Le TL, Amiel J, Gordon CT, Boztug K, Girisha KM, Shukla A, Bielas SL, Schaffer AE. Werren EA, et al. Nat Commun. 2024 Feb 22;15(1):1640. doi: 10.1038/s41467-024-45948-y. Nat Commun. 2024. PMID: 38388531 Free PMC article.
500 results