PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Korean Journal of Ophthalmology10.3341/kjo.2019.0083202034194Retinitis Pigmentosa Associated with Bardet-Biedl Syndrome with BBS9 Gene Mutation in a Korean PatientYong Hoon Kim, Kwang Sic Joo, Moon-Woo Seong, Sung Sup Park, Se Joon Woohttps://synapse.koreamed.org/pdf/10.3341/kjo.2019.0083, https://synapse.koreamed.org/DOIx.php?id=10.3341/kjo.2019.0083, https://synapse.koreamed.org/DOIx.php?id=10.3341/kjo.2019.0083
Handbook of Pediatric Retinal OCT and the Eye-Brain Connection10.1016/b978-0-323-60984-5.00024-x2020110-114Other Forms of Retinitis Pigmentosa—Usher Syndrome, Leber Congenital Amaurosis, and Bardet-Biedl SyndromeMohsin H. Ali, Alessandro Iannaccone, Lejla Vajzovichttps://api.elsevier.com/content/article/PII:B978032360984500024X?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:B978032360984500024X?httpAccept=text/plain
Anales de Pediatría (English Edition)10.1016/j.anpede.2020.05.0172021952116-118Neuronal ceroid lipofuscinosis and Bardet-Biedl syndrome in patient with retinitis pigmentosaJosé D. Santotoribio, Esperanza Lepe-Balsalobre, Irene Alonso-Pérez, Andrea Campo-Barasoain, Hada C. Macherhttps://api.elsevier.com/content/article/PII:S2341287921001149?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S2341287921001149?httpAccept=text/plain
Molecular Genetics & Genomic Medicine10.1002/mgg3.1731202198Novel homozygous protein‐truncating mutation of BBS9 identified in a Chinese consanguineous family with Bardet–Biedl syndromeHai‐Yan Tang, Fen Xie, Ru‐Chun Dai, Xiao‐Liu Shihttps://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1731, https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mgg3.1731, https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1731
PLoS ONE10.1371/journal.pone.0034389201273e34389Knockdown of Bardet-Biedl Syndrome Gene BBS9/PTHB1 Leads to Cilia DefectsShobi Veleri, Kevin Bishop, Damian E. Dalle Nogare, Milton A. English, Trevor J. Foskett, Ajay Chitnis, Raman Sood, Paul Liu, Anand Swaroophttp://dx.plos.org/10.1371/journal.pone.0034389
Journal of Biological Chemistry10.1074/jbc.m115.64920220152903219569-19583Structural Characterization of Bardet-Biedl Syndrome 9 Protein (BBS9)Kevin E. Knockenhauer, Thomas U. Schwartzhttps://api.elsevier.com/content/article/PII:S0021925820422197?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0021925820422197?httpAccept=text/plain, https://syndication.highwire.org/content/doi/10.1074/jbc.M115.649202
BioMed Research International10.1155/2021/4514967202120211-5A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl SyndromeYue Zhang, Manhong Xu, Minglian Zhang, Guoxing Yang, Xiaorong Lihttp://downloads.hindawi.com/journals/bmri/2021/4514967.pdf, http://downloads.hindawi.com/journals/bmri/2021/4514967.xml, http://downloads.hindawi.com/journals/bmri/2021/4514967.pdf
10.21203/rs.3.rs-1052435/v12021Novel Homozygous Nonsense Mutation Associated with Bardet-Biedl Syndrome in Fetus with Congenital Renal MalformationMeiying Cai, Xianguo Fu, Liangpu Xu, Na Lin, Hailong Huang, Min Linhttps://www.researchsquare.com/article/rs-1052435/v1, https://www.researchsquare.com/article/rs-1052435/v1.html
The Journal of Internal Korean Medicine10.22246/jikm.2022.43.5.9602022435960-966A Patient with Irritable Bowel Syndrome Improved After Treatment with <italic>Sosiho-tang</italic>, <italic>Jakyakgamcho-tang</italic>, and Acupuncture: A Case ReportChiho Choi, Seungwon Kwonhttp://jikm.or.kr/upload/pdf/jikm-43-5-960.pdf, http://jikm.or.kr/journal/view.php?doi=10.22246/jikm.2022.43.5.960, http://jikm.or.kr/upload/pdf/jikm-43-5-960.pdf
Gene10.1016/j.gene.2012.12.06620135152372-375A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa — The NARP syndromeMorten Duno, Flemming Wibrand, Kirsten Baggesen, Thomas Rosenberg, Niels Kjaer, Anja L. Frederiksenhttps://api.elsevier.com/content/article/PII:S037811191201596X?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S037811191201596X?httpAccept=text/plain