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Publications by Akiko Amagata
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
Related publications
Bi-Allelic ADPRHL2 Mutations Cause Neurodegeneration With Developmental Delay, Ataxia, and Axonal Neuropathy
American Journal of Human Genetics
Genetics
De novoPHIPpredicted Deleterious Variants Are Associated With Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features
Cold Spring Harbor molecular case studies
Biochemistry
Molecular Medicine
Genetics
Bi-Allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
American Journal of Human Genetics
Genetics
Bi-Allelic Inactivating Variants in the COCH Gene Cause Autosomal Recessive Prelingual Hearing Impairment
European Journal of Human Genetics
Genetics
RINT1 Bi-Allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities
American Journal of Human Genetics
Genetics
Bi-Allelic TMEM94 Truncating Variants Are Associated With Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism
American Journal of Human Genetics
Genetics
A Review of the Genomic Analysis of Children Presenting With Developmental Delay/Intellectual Disability and Associated Dysmorphic Features
Cureus
Developmental Delay, Coarse Facial Features, and Epilepsy in a Patient With EXT2 Gene Variants
Clinical Case Reports
Medicine
Attention-Deficit/Hyperactivity Disorder (ADHD): A Review of Neuroscientific Evidence of Developmental Delay and Dysfunction
Journal of Systems and Integrative Neuroscience
