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Publications by Liangshan Li
Targeted Regions Sequencing Identified Four Novel PNPLA1 Mutations in Two Chinese Families With Autosomal Recessive Congenital Ichthyosis
Molecular genetics & genomic medicine
Genetics
Molecular Biology
Related publications
Autosomal Recessive Congenital Ichthyosis: CERS3 Mutations Identified by a Next Generation Sequencing Panel Targeting Ichthyosis Genes
European Journal of Human Genetics
Genetics
Functional Study ofTGM1missense Mutations in Autosomal Recessive Congenital Ichthyosis
Experimental Dermatology
Biochemistry
Dermatology
Molecular Biology
Novel Mutations of TMPRSS3 in Four DFNB8/B10 Families Segregating Congenital Autosomal Recessive Deafness
Journal of Medical Genetics
Genetics
Whole Exome Sequencing Identified Novel CRB1 Mutations in Chinese and Indian Populations With Autosomal Recessive Retinitis Pigmentosa
Scientific Reports
Multidisciplinary
Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families
PLoS ONE
Multidisciplinary
Novel Transglutaminase-1 Mutations and Genotype-Phenotype Investigations of 104 Patients With Autosomal Recessive Congenital Ichthyosis in the USA
Journal of Medical Genetics
Genetics
Transglutaminase 1 Mutations in Autosomal Recessive Congenital Ichthyosis: Private and Recurrent Mutations in an Isolated Population
American Journal of Human Genetics
Genetics
NIPAL4 Deletion Identified in an American Bully With Autosomal Recessive Congenital Ichthyosis and Response to Topical Therapy
Veterinary Medicine and Science
Veterinary
Identification of Novel USH2A Mutations in Patients With Autosomal Recessive Retinitis Pigmentosa via Targeted Next‑generation Sequencing
Molecular Medicine Reports
Oncology
Genetics
Molecular Biology
Biochemistry
Cancer Research
Molecular Medicine
