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Publications by Jia-qi Li
RINT1 Bi-Allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities
American Journal of Human Genetics
Genetics
Ultra-Broadband and Strongly Enhanced Diffraction With Metasurfaces
Scientific Reports
Multidisciplinary
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Bi-Allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
American Journal of Human Genetics
Genetics
Bi-Allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy With Brain Malformation
American Journal of Human Genetics
Genetics
Bi-Allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay
American Journal of Human Genetics
Genetics
Acute Liver Failure
Journal of Clinical Gastroenterology
Gastroenterology
Bi-Allelic ADPRHL2 Mutations Cause Neurodegeneration With Developmental Delay, Ataxia, and Axonal Neuropathy
American Journal of Human Genetics
Genetics
Acute Liver Failure.
Gut
Gastroenterology
An Uncommon Cause of Early Infantile Liver Disease and Raised Chitotriosidase
JIMD Reports
Internal Medicine
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
American Journal of Human Genetics
Genetics
Review of Dengue Deaths: Acute Liver Failure as a Major Cause of Mortality
Journal of Evidence Based Medicine and Healthcare
