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Publications by Mikihiro Aoki
KAT6B-related Disorder in a Patient With a Novel Frameshift Variant (C.3925dup)
Human Genome Variation
Biochemistry
Genetics
Molecular Biology
Related publications
A Novel Frameshift Mutation in the XPC Gene in a Moroccan Patient: A Case Report
Journal of Medical Case Reports
Medicine
Identification of a Novel Heterozygous Guanosine Monophosphate Reductase ( GMPR ) Variant in a Patient With a Late‐onset Disorder of Mitochondrial DNA Maintenance
Clinical Genetics
Genetics
Orbital IgG4 Related Disease in a Patient With Irka Variant Gene: A Case Report
Pathology
Forensic Medicine
Pathology
A Novel Pathogenic Variant (C.592_599del) in PCDH19 in a Korean Family With Epilepsy
Annals of Child Neurology
A Novel CACNA1A Nonsense Variant in a Patient Presenting With Paroxysmal Exertion-Induced Dyskinesia
Journal of the Neurological Sciences
Neurology
Fructosuria and Recurrent Hypoglycemia in a Patient With a Novel C.1693T>A Variant in the 3′ Untranslated Region of the Aldolase B Gene
SAGE Open Medical Case Reports
A Case of a Patient Infected With a Hepatitis C Virus Genotype 3a Multidrug Resistant Variant in Pakistan
Infectious Diseases of Poverty
Medicine
Environmental
Public Health
Infectious Diseases
Occupational Health
A Rare Variant of Transthyretin-Related Amyloidosis Associated With Exclusive Cardiomyopathy in a Hong Kong Chinese Patient
Journal of Cardiology Cases
Cardiovascular Medicine
Cardiology
Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient With Androgen Insensitivity Syndrome
Journal of Pediatric and Adolescent Gynecology
Child Health
Gynecology
Perinatology
Obstetrics
Medicine
Pediatrics
