Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Chuangye Li
Genetic and Clinical Analyses of 13 Chinese Families With Cystine Urolithiasis and Identification of 15 Novel Pathogenic Variants in SLC3A1 and SLC7A9
Frontiers in Genetics
Genetics
Molecular Medicine
Related publications
Novel KRIT1/CCM1 and MGC4607/CCM2 Gene Variants in Chinese Families With Cerebral Cavernous Malformations
Frontiers in Neurology
Neurology
Identification of Candidate Gene FAM183A and Novel Pathogenic Variants in Known Genes: High Genetic Heterogeneity for Autosomal Recessive Intellectual Disability
PLoS ONE
Multidisciplinary
Clinical Diversity in Patients With Schnyder Corneal Dystrophy—a Novel and Known UBIAD1 Pathogenic Variants
Graefe's Archive for Clinical and Experimental Ophthalmology
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
TCOF1 Pathogenic Variants Identified by Whole-Exome Sequencing in Chinese Treacher Collins Syndrome Families and Hearing Rehabilitation Effect
Orphanet Journal of Rare Diseases
Medicine
Genetics
Pharmacology
A Combined RNA-seq and Whole Genome Sequencing Approach for Identification of Non-Coding Pathogenic Variants in Single Families.
Identification of H3N2 NA and PB1-F2 Genetic Variants and Their Association With Disease Symptoms in the 2014-15 Influenza Season
Two Novel Missense Substitutions in the VSX1 Gene: Clinical and Genetic Analysis of Families With Keratoconus From India
BMC Medical Genetics
Genetics
Pathway Analyses Identify Novel Variants in the WNT Signaling Pathway Associated With Tuberculosis in Chinese Population
Scientific Reports
Multidisciplinary
Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants
Frontiers in Neurology
Neurology
