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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2017 | 1 |
2018 | 1 |
2020 | 2 |
2023 | 1 |
2024 | 0 |
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PCDH12 loss results in premature neuronal differentiation and impeded migration in a cortical organoid model.
Cell Rep. 2023 Aug 29;42(8):112845. doi: 10.1016/j.celrep.2023.112845. Epub 2023 Jul 21.
Cell Rep. 2023.
PMID: 37480564
Free PMC article.
Characterization of seizure susceptibility in Pcdh19 mice.
Rakotomamonjy J, Sabetfakhri NP, McDermott SL, Guemez-Gamboa A.
Rakotomamonjy J, et al.
Epilepsia. 2020 Oct;61(10):2313-2320. doi: 10.1111/epi.16675. Epub 2020 Sep 18.
Epilepsia. 2020.
PMID: 32944953
Free PMC article.
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PYRC2-Related Hypomyelinating Leukodystrophy: More to This Than Meets the Eye.
Rakotomamonjy J, Rylaarsdam L, Guemez-Gamboa A.
Rakotomamonjy J, et al.
Neuron. 2020 Jul 8;107(1):3-5. doi: 10.1016/j.neuron.2020.06.007.
Neuron. 2020.
PMID: 32645307
Free article.
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Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.
Guemez-Gamboa A, Çağlayan AO, Stanley V, Gregor A, Zaki MS, Saleem SN, Musaev D, McEvoy-Venneri J, Belandres D, Akizu N, Silhavy JL, Schroth J, Rosti RO, Copeland B, Lewis SM, Fang R, Issa MY, Per H, Gumus H, Bayram AK, Kumandas S, Akgumus GT, Erson-Omay EZ, Yasuno K, Bilguvar K, Heimer G, Pillar N, Shomron N, Weissglas-Volkov D, Porat Y, Einhorn Y, Gabriel S, Ben-Zeev B, Gunel M, Gleeson JG.
Guemez-Gamboa A, et al.
Ann Neurol. 2018 Nov;84(5):638-647. doi: 10.1002/ana.25327. Epub 2018 Oct 4.
Ann Neurol. 2018.
PMID: 30178464
Free PMC article.
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Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.
Marin-Valencia I, Gerondopoulos A, Zaki MS, Ben-Omran T, Almureikhi M, Demir E, Guemez-Gamboa A, Gregor A, Issa MY, Appelhof B, Roosing S, Musaev D, Rosti B, Wirth S, Stanley V, Baas F, Barr FA, Gleeson JG.
Marin-Valencia I, et al.
Am J Hum Genet. 2017 Sep 7;101(3):441-450. doi: 10.1016/j.ajhg.2017.07.015. Epub 2017 Aug 17.
Am J Hum Genet. 2017.
PMID: 28823706
Free PMC article.
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