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Publications by Ruen Yao
Biallelic ERBB3 Loss-Of-Function Variants Are Associated With a Novel Multisystem Syndrome Without Congenital Contracture
Orphanet Journal of Rare Diseases
Medicine
Genetics
Pharmacology
De Novo Truncating Variant in NSD2gene Leading to Atypical Wolf-Hirschhorn Syndrome Phenotype
BMC Medical Genetics
Genetics
Related publications
Biallelic Loss of Function Variants in PPP1R21 Cause a Neurodevelopmental Syndrome With Impaired Endocytic Function
Human Mutation
Genetics
Novel PITX2c Loss-Of-Function Mutations Associated With Complex Congenital Heart Disease
International Journal of Molecular Medicine
Medicine
Genetics
Identification of Biallelic Germline Variants of SRP68 in a Sporadic Case With Severe Congenital Neutropenia
Haematologica
Hematology
Non-Coding and Loss-Of-Function Coding Variants in TET2 Are Associated With Multiple Neurodegenerative Diseases
Biallelic Variants in LINGO1 Are Associated With Autosomal Recessive Intellectual Disability, Microcephaly, Speech and Motor Delay
Genetics in Medicine
Medicine
Genetics
Heterozygous RNF13 Gain-Of-Function Variants Are Associated With Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive
American Journal of Human Genetics
Genetics
Genetic Variants in SCN5A Promoter Are Associated With Arrhythmia Phenotype Severity in Patients With Heterozygous Loss-Of-Function Mutation
Heart Rhythm
Cardiovascular Medicine
Physiology
Cardiology
A Novel Loss-Of-Function Mutation in HOXB1 Associated With Autosomal Recessive Hereditary Congenital Facial Palsy in a Large Iranian Family
Molecular Syndromology
Genetics
Juvenile Myelomonocytic Leukemia-Associated Variants Are Associated With Neo-Natal Lethal Noonan Syndrome
European Journal of Human Genetics
Genetics
