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Page 1
Editorial: Genetics and mechanism of ciliopathies.
Front Genet. 2022 Oct 28;13:1067168. doi: 10.3389/fgene.2022.1067168. eCollection 2022.
Front Genet. 2022.
PMID: 36386820
Free PMC article.
No abstract available.
Glis2 is an early effector of polycystin signaling and a target for therapy in polycystic kidney disease.
Zhang C, Rehman M, Tian X, Pei SLC, Gu J, Bell TA 3rd, Dong K, Tham MS, Cai Y, Wei Z, Behrens F, Jetten AM, Zhao H, Lek M, Somlo S.
Zhang C, et al. Among authors: pei slc.
Nat Commun. 2024 May 1;15(1):3698. doi: 10.1038/s41467-024-48025-6.
Nat Commun. 2024.
PMID: 38693102
Free PMC article.
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Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy.
Tsang MH, Leung GK, Ho AC, Yeung KS, Mak CC, Pei SL, Yu MH, Kan AS, Chan KY, Kwong KL, Lee SL, Yung AW, Fung CW, Chung BH.
Tsang MH, et al. Among authors: pei sl.
Epilepsia Open. 2018 Dec 6;4(1):63-72. doi: 10.1002/epi4.12282. eCollection 2019 Mar.
Epilepsia Open. 2018.
PMID: 30868116
Free PMC article.
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Monoallelic Mutations in CC2D1A Suggest a Novel Role in Human Heterotaxy and Ciliary Dysfunction.
Ma ACH, Mak CCY, Yeung KS, Pei SLC, Ying D, Yu MHC, Hasan KMM, Chen X, Chow PC, Cheung YF, Chung BHY.
Ma ACH, et al. Among authors: pei slc.
Circ Genom Precis Med. 2020 Dec;13(6):e003000. doi: 10.1161/CIRCGEN.120.003000. Epub 2020 Nov 16.
Circ Genom Precis Med. 2020.
PMID: 33196317
Free PMC article.
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Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.
Yeung KS, Tso WWY, Ip JJK, Mak CCY, Leung GKC, Tsang MHY, Ying D, Pei SLC, Lee SL, Yang W, Chung BH.
Yeung KS, et al. Among authors: pei slc.
Mol Autism. 2017 Dec 20;8:66. doi: 10.1186/s13229-017-0182-4. eCollection 2017.
Mol Autism. 2017.
PMID: 29296277
Free PMC article.
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