Tumgik
clcpapers · 4 months
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Expanding the phenotypic spectrum of CLCN2-related leucoencephalopathy and ataxia
http://dlvr.it/T0ycLB
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clcpapers · 4 months
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Physiological and Pathological Significance of Chloride Channels
http://dlvr.it/T0ycJF
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clcpapers · 4 months
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Verapamil mitigates chloride and calcium bi-channelopathy in a myotonic dystrophy mouse model
http://dlvr.it/T0t54P
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clcpapers · 4 months
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Phenotype-Genotype Correlations in Three Different Cases of Adult-Onset Genetic Focal Segmental Glomerulosclerosis
http://dlvr.it/T0X7DT
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clcpapers · 4 months
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Impaired Autophagic Clearance with a Gain-of-Function Variant of the Lysosomal Cl-/H+ Exchanger ClC-7
http://dlvr.it/T0X7B7
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clcpapers · 4 months
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Genome-wide single nucleotide polymorphism (SNP) data reveal potential candidate genes for litter traits in a Yorkshire pig population
http://dlvr.it/T0L5RZ
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clcpapers · 5 months
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Case report: ocular manifestations of a gain-of-function mutation in CLCN6, a newly diagnosed disease
http://dlvr.it/T07PYX
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clcpapers · 5 months
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Expanding Genotype-Phenotype Correlation of CLCNKA and CLCNKB Variants Linked to Hearing Loss
http://dlvr.it/SzwgK5
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clcpapers · 5 months
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Dent disease 1-linked novel CLCN5 mutations result in aberrant location and reduced ion currents
http://dlvr.it/SzsKpr
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clcpapers · 5 months
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Case report: A frameshift mutation in CLCN2-related leukoencephalopathy and retinopathy
http://dlvr.it/SzVdf6
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clcpapers · 5 months
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Vesicular CLC chloride/proton exchangers in health and diseases
http://dlvr.it/SzVddr
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clcpapers · 5 months
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Identification of two novel autism genes, TRPC4 and SCFD2, in Qatar simplex families through exome sequencing
http://dlvr.it/SzVddC
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clcpapers · 5 months
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Diagnostics in skeletal muscle channelopathies
http://dlvr.it/SzN9ks
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clcpapers · 5 months
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A Mendelian Randomization-Based Causal Investigation on Bacterial Infection-Related Genes and Neurodegenerative Diseases
http://dlvr.it/SzLnLF
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clcpapers · 5 months
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Selective Sweeps in Cattle Genomes in Response to the Influence of Urbanization and Environmental Contamination
http://dlvr.it/SzJyMp
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clcpapers · 5 months
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Characterization of pre-mRNA Splicing Defects Caused by CLCN5 and OCRL Mutations and Identification of Novel Variants Associated with Dent Disease
http://dlvr.it/SzJyLX
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clcpapers · 5 months
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Prediction of Early Atherosclerotic Plaques using a Sequence-Activated Fluorescence Probe for the Simultaneous Detection of γ-Glutamyl Transpeptidase and Hypobromous Acid
http://dlvr.it/Sz75rq
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