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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 - 5 (of 5 Records)

Query Trace: Syndrome and COL18A1[original query]
Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease.
Gastroenterology 2010 Jul 139 (1): 130-9.e24.
Roberts Kari E, Kawut Steven M, Krowka Michael J, Brown Robert S, Trotter James F, Shah Vijay, Peter Inga, Tighiouart Hocine, Mitra Nandita, Handorf Elizabeth, Knowles James A, Zacks Steven, Fallon Michael B,
Genotype analysis of the human endostatin variant p.D104N in benign and malignant adrenocortical tumors.
Clinics (São Paulo, Brazil) 2012 67 (2): 95-8.
Mariani Beatriz Marinho de Paula, Trarbach Ericka Barbosa, Ribeiro Tamaya Castro, Pereira Maria Adelaide Albergaria, Mendonca Berenice Bilharinho, Fragoso Maria Candida Barisson Villar
Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree.
International journal of ophthalmology 2018 7 11 (6): 918-922.
Zhang Lu-Si, Li Hai-Bo, Zeng Jun, Yang Yan, Ding Ch
An Early Diagnostic Clue for COL18A1- and LAMA1-Associated Diseases: High Myopia With Alopecia Areata in the Cranial Midline.
Frontiers in cell and developmental biology 2021 7 9 644947.
Wang Panfeng, Jia Xiaoyun, Xiao Xueshan, Li Shiqiang, Long Yuxi, Liu Mengchu, Li Yongyu, Li Jun, Xu Yan, Zhang Qingjio
Knobloch Syndrome Associated with Novel COL18A1 Variants in Chinese Population.
Genes 2021 10 12 (10): .
Li Songshan, Wang You, Sun Limei, Yan Wenjia, Huang Li, Zhang Zhaotian, Zhang Ting, Ding Xiaoy
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