Search Results - "Medical genetics

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  1. 2001
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    Identification of ANKDD1B variants in an ankylosing spondylitis pedigree and a sporadic patient by Zhiping Tan, Hui Zeng, Zhaofa Xu, Qi Tian, Xiaoyang Gao, Chuanman Zhou, Yu Zheng, Jian Wang, Guanghui Ling, Bing Wang, Yifeng Yang, Long Ma

    Published 2018
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  2. 2002
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    Suggestion for linkage of chromosome 1p35.2 and 3q28 to plasma adiponectin concentrations in the GOLDN Study by Tsai Michael Y, Hixson James E, Borecki Ingrid B, Peacock James M, Pankow James S, Rasmussen-Torvik Laura J, Kabagambe Edmond K, Arnett Donna K

    Published 2009
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  3. 2003
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    Commercial Diagnostics and Emerging Precision Medicine Technologies in Psoriasis and Atopic Dermatitis by Haran K, Kranyak A, Johnson CE, Smith P, Farberg AS, Bhutani T, Liao W

    Published 2024
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  4. 2004
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    Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants by Xicui Long, Wenyu Xiong, Xuegang Wang, Jia Geng, Mingjun Zhong, Yu Huang, Man Liu, Fengxiao Bu, Jing Cheng, Yu Lu, Huijun Yuan

    Published 2024
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  5. 2005
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    Retraction Note: A novel necroptosis signature for predicting survival in lung adenocarcinoma by Kui Zang, Min Wang, Xingxing Zhu, Bin Yao, Ying Huang

    Published 2024
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  6. 2006
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    Correction: Construction of a lipid metabolism-related and immune-associated prognostic score for gastric cancer by Jing Dai, Qiqing Li, Jun Quan, Yueyi Zou, Juan Liu, Kai Gao

    Published 2023
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  7. 2007
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    Novel gene mutation in von Hippel-Lindau disease - a report of two cases by Jitian Wang, Wenjie Cao, Zhaoxia Wang, Hong Zhu

    Published 2019
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  8. 2008
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    Correlation of gene polymorphisms of vascular endothelial growth factor with grade and prognosis of lung cancer by Changjiang Liu, Xuetao Zhou, Zefeng Zhang, Yang Guo

    Published 2020
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  9. 2009
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    Case report of unexpected gastrointestinal involvement in type 1 Gaucher disease: comparison of eliglustat tartrate treatment and enzyme replacement therapy by Yoo-Mi Kim, Dong Hoon Shin, Su Bum Park, Chong Kun Cheon, Han-Wook Yoo

    Published 2017
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  10. 2010
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    Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation by Paulo Breno Noronha Liberalesso, Mara L. Cordeiro, Simone Carreiro Vieira Karuta, Karyn Regina Jordão Koladicz, Anderson Nitsche, Bianca Simone Zeigelboim, Salmo Raskin, Michael Rauchman

    Published 2017
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  11. 2011
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    Ten things to know about ten cardiovascular disease risk factors ("ASPC Top Ten - 2020") by Harold Edward Bays

    Published 2020
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  12. 2012
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    Estrogen receptor alpha dinucleotide repeat polymorphism in Japanese patients with autoimmune thyroid diseases by Tozaki Teruaki, Taniyama Matsuo, Ban Yoshiyuki, Tomita Motowo, Ban Yoshio

    Published 2000
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  13. 2013
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    Whole exome sequencing highlights variants in association with Keratoconus in Jordanian families by Tawfiq Froukh, Ammar Hawwari, Khalid Al Zubi

    Published 2020
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  14. 2014
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    Case reports: novel TUBG1 mutations with milder neurodevelopmental presentations by Yue T. K. Yuen, Ilaria Guella, Elke Roland, Michael Sargent, Cyrus Boelman

    Published 2019
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  15. 2015
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    Screening of the transcriptional regulatory regions of vascular endothelial growth factor receptor 2 (VEGFR2) in amyotrophic lateral sclerosis by Hartley Judith, Nixon Hannah, Wokke Beatrijs, Brockington Alice, Shaw Pamela J

    Published 2007
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  16. 2016
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    Relationship between TGF-β1 + 869 T/C and + 915 G/C gene polymorphism and risk of acute rejection in renal transplantation recipients by Hong-Yan Li, Tianbiao Zhou, Shujun Lin, Wenshan Lin

    Published 2019
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  17. 2017
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    Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis by Lara Pemberton, Robert Barker, Anna Cockell, Vijaya Ramachandran, Andrea Haworth, Tessa Homfray

    Published 2020
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  18. 2018
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    Associations of BAFF rs2893321 polymorphisms with myasthenia gravis susceptibility by Hui Deng, Jianjian Wang, Xiaotong Kong, Huixue Zhang, Tianfeng Wang, Wenqi Tian, Tingting Yi, Lihua Wang

    Published 2019
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  19. 2019
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    Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report by Laura Schultz-Rogers, Karthik Muthusamy, Filippo Pinto e Vairo, Eric W. Klee, Brendan Lanpher

    Published 2020
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  20. 2020
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    A <it>novel </it>heterozygous <it>missense </it>mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy by Clemente Carla, Gaspar Augusta, Calado Joaquim, Rueff José

    Published 2005
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