Browsing "1. Journal Papers" by Issue Date :

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Showing results 21 to 40 of 663

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Issue DateTitleJournal Title
2019En bloc and segmental deletions of human XIST reveal X chromosome inactivation-involving RNA elements NUCLEIC ACIDS RESEARCH
2019Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency Scientific Reports
2019Rare KCNQ4 variants found in public databases underlie impaired channel activity that may contribute to hearing impairmentExperimental and Molecular Medicine
2019Assessment of mGluR5 KO mice under conditions of low stress using a rodent touchscreen apparatus reveals impaired behavioural flexibility driven by perseverative responses Molecular Brain
2019Reduced expression of pyruvate kinase in kidney proximal tubule cells is a potential mechanism of pravastatin altered glucose metabolism SCIENTIFIC REPORTS
2019Overexpression and Implications of Melanoma-associated Antigen A12 in Pathogenesis of Human Cutaneous Squamous Cell CarcinomaANTICANCER RESEARCH
2019Temperature-dependent increase in the calcium sensitivity and acceleration of activation of ANO6 chloride channel variants Scientific Reports
2019Secreted metalloproteases ADAMTS9 and ADAMTS20 have a non-canonical role in ciliary vesicle growth during ciliogenesis NATURE COMMUNICATIONS
2019Autism-like behaviors in male mice with a Pcdh19 deletion MOLECULAR BRAIN
2019Low binding affinity and reduced complement-dependent cell death efficacy of ofatumumab produced using a plant system (Nicotiana benthamiana L.)PROTEIN EXPRESSION AND PURIFICATION
2019A novel early truncation mutation in OTOG causes prelingual mild hearing loss without vestibular dysfunctionEUROPEAN JOURNAL OF MEDICAL GENETICS
2019The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report BMC MEDICAL GENETICS
2019A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activatorsHUMAN MUTATION
2019Mutations of ADAMTS9 Cause Nephronophthisis-Related CiliopathyAMERICAN JOURNAL OF HUMAN GENETICS
2019Contribution of SLC22A12 on hypouricemia and its clinical significance for screening purposes SCIENTIFIC REPORTS
2019Hyperpolarized [1-13C]lactate flux increased in the hippocampal region in diabetic mice MOLECULAR BRAIN
2019SpCas9 activity prediction by DeepSpCas9, a deep learning-based model with high generalization performance Science Advances
2019Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndromeKIDNEY INTERNATIONAL
2019β-catenin activation down-regulates cell-cell junction-related genes and induces epithelial-to-mesenchymal transition in colorectal cancers SCIENTIFIC REPORTS
2018ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms PLOS GENETICS