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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 9 (of 9 Records)

Query Trace: Syndrome and CEL[original query]
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
Journal of medical genetics 2011 Feb 48 (2): 105-16.
Otto Edgar A, Ramaswami Gokul, Janssen Sabine, Chaki Moumita, Allen Susan J, Zhou Weibin, Airik Rannar, Hurd Toby W, Ghosh Amiya K, Wolf Matthias T, Hoppe Bernd, Neuhaus Thomas J, Bockenhauer Detlef, Milford David V, Soliman Neveen A, Antignac Corinne, Saunier Sophie, Johnson Colin A, Hildebrandt Friedhelm,
Applying and testing the conveniently optimized enzyme mismatch cleavage method to clinical DNA diagnosis.
Molecular genetics and metabolism 2012 Nov 107 (3): 580-5.
Niida Yo, Kuroda Mondo, Mitani Yusuke, Okumura Akiko, Yokoi Aya
Complex Genetics in Pancreatitis: Insights Gained From a New Candidate Locus Panel.
Pancreas 2020 7 49 (7): 983-998.
Ellison Mitchell A, Spagnolo Daniel M, Shelton Celeste, Orlova Ekatarina, LaRusch Jessica, Whitcomb David C, Haupt Ma
Characterization of CEL-DUP2: Complete duplication of the carboxyl ester lipase gene is unlikely to influence risk of chronic pancreatitis.
Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] 2020 Jan .
Fjeld Karianne, Masson Emmanuelle, Lin Jin-Huan, Michl Patrick, Stokowy Tomasz, Gravdal Anny, El Jellas Khadija, Steine Solrun J, Hoem Dag, Johansson Bente B, Dalva Monica, Ruffert Claudia, Zou Wen-Bin, Li Zhao-Shen, Njølstad Pål R, Chen Jian-Min, Liao Zhuan, Johansson Stefan, Rosendahl Jonas, Férec Claude, Molven Ande
Monitoring of Circulating Tumor DNA Improves Early Relapse Detection After Axicabtagene Ciloleucel Infusion in Large B-Cell Lymphoma: Results of a Prospective Multi-Institutional Trial.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2021 6 39 (27): 3034-3043.
Frank Matthew J, Hossain Nasheed M, Bukhari Ali, Dean Erin, Spiegel Jay Y, Claire Gursharan K, Kirsch Ilan, Jacob Allison P, Mullins Chelsea D, Lee Lik Wee, Kong Katherine A, Craig Juliana, Mackall Crystal L, Rapoport Aaron P, Jain Michael D, Dahiya Saurabh, Locke Frederick L, Miklos David
Mutation spectrum and genotype-phenotype correlations in Chinese congenital ectopia lentis patients.
Experimental eye research 2021 4 207 108570.
Guo Dongwei, Jin Guangming, Zhou Yijing, Zhang Xinyu, Cao Qianzhong, Lian Zhangkai, Guo Yibin, Zheng Danyi
Next-generation sequencing panel analysis in 24 Chinese patients with congenital ectopia lentis.
International ophthalmology 2022 5 42 (7): 2245-2253.
Qi Meng, Wang Chong, Liu Yi, Shi Xiangyu, Rong WeiNi
Cysteine Substitution and Calcium-Binding Mutations in FBN1 cbEGF-Like Domains Are Associated With Severe Ocular Involvement in Patients With Congenital Ectopia Lentis.
Frontiers in cell and developmental biology 2022 3 9 816397.
Zhang Min, Chen Zexu, Chen Tianhui, Sun Xiaodong, Jiang Yongxia
Ocular, cardiovascular, and genetic characteristics and their associations in children with Marfan syndrome and related fibrillinopathies.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2023 7 .
Dongwei Guo, Liyan Liu, Kit Yee Ng, Qianzhong Cao, Danying Zheng, Xinyu Zhang, Guangming J
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