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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Sep 25, 2023. (Total: 221440Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Cutis Laxa[original query]
Analysis of exonic elastin variants in severe, early-onset chronic obstructive pulmonary disease.
American journal of respiratory cell and molecular biology 2009 Jun 40 (6): 751-5.
Cho Michael H, Ciulla Dawn M, Klanderman Barbara J, Hersh Craig P, Litonjua Augusto A, Sparrow David, Raby Benjamin A, Silverman Edwin
Whole exome sequencing analysis in severe chronic obstructive pulmonary disease.
Human molecular genetics 2018 Jul .
Qiao Dandi, Ameli Asher, Prokopenko Dmitry, Chen Han, Kho Alvin T, Parker Margaret M, Morrow Jarrett, Hobbs Brian D, Liu Yanhong, Beaty Terri H, Crapo James D, Barnes Kathleen C, Nickerson Deborah A, Bamshad Michael, Hersh Craig P, Lomas David A, Agusti Alvar, Make Barry J, Calverley Peter M A, Donner Claudio F, Wouters Emiel F, Vestbo Jørgen, Paré Peter D, Levy Robert D, Rennard Stephen I, Tal-Singer Ruth, Spitz Margaret R, Sharma Amitabh, Ruczinski Ingo, Lange Christoph, Silverman Edwin K, Cho Michael
ATP6V1A variants are associated with childhood epilepsy with favorable outcome.
Seizure 2023 8 .
Bin Li, Song Lan, Xiao-Rong Liu, Jing-Jing Ji, Yun-Yan He, Dong-Ming Zhang, Jie Xu, Hui Sun, Zhen Shi, Jie Wang, Yang Ti
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