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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: Disease and GJC2[original query]
Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema.
Molecular syndromology 2013 Sep 4 (6): 257-66.
Mendola A, Schlögel M J, Ghalamkarpour A, Irrthum A, Nguyen H L, Fastré E, Bygum A, van der Vleuten C, Fagerberg C, Baselga E, Quere I, Mulliken J B, Boon L M, Brouillard P, Vikkula M,
Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.
PloS one 2018 2 13 (2): e0188869.
Ji Haoran, Li Dongxiao, Wu Ye, Zhang Quanli, Gu Qiang, Xie Han, Ji Taoyun, Wang Huifang, Zhao Lu, Zhao Haijuan, Yang Yanling, Feng Hongchun, Xiong Hui, Ji Jinhua, Yang Zhixian, Kou Liping, Li Ming, Bao Xinhua, Chang Xingzhi, Zhang Yuehua, Li Li, Li Huijuan, Niu Zhengping, Wu Xiru, Xiao Jiangxi, Jiang Yuwu, Wang Jingm
Hypomyelinating leukodystrophies in adults: Clinical and genetic features.
European journal of neurology 2020 11 28 (3): 934-944.
Di Bella Daniela, Magri Stefania, Benzoni Chiara, Farina Laura, Maccagnano Carmelo, Sarto Elisa, Moscatelli Marco, Baratta Silvia, Ciano Claudia, Piacentini Sylvie H M J, Draghi Lara, Mauro Elena, Pareyson Davide, Gellera Cinzia, Taroni Franco, Salsano Etto
Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population.
American journal of medical genetics. Part A 2024 10 e63914.
Namanpreet Kaur, Michelle C do Rosario, Purvi Majethia, Selinda Mascarenhas, Lakshmi Priya Rao, Karthik Vijay Nair, Bhagesh Hunakunti, Adarsh Pooradan Prasannakumar, Rohit Naik, Dhanya Lakshmi Narayanan, Shalini S Nayak, Vivekananda Bhat, Suvasini Sharma, Y Ramesh Bhat, B L Yatheesha, Rajesh Kulkarni, Siddaramappa J Patil, Sheela Nampoothiri, Shahyan Siddiqui, Katta Mohan Girisha, Stephanie Bielas, Anju Shuk
Reanalysis of Exome Sequencing Data in the Indian Undiagnosed Diseases Program: Improving Diagnostic Yield and Ending Diagnostic Odyssey.
Clinical genetics 2025 1 .
Neha Garg, Pragna Lakshmi, Suzena M Singh, Samarth Kulshreshta, Prajnya Ranganath, Amita Moirangthem, Ashwin Dalal, Aakanksha Gahlot, Ratna Dua Pu
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