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Publications by Noriko Miyake
Biallelic Mutations in MYPN , Encoding Myopalladin, Are Associated With Childhood-Onset, Slowly Progressive Nemaline Myopathy
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
De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy
American Journal of Human Genetics
Genetics
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons
American Journal of Human Genetics
Genetics
De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen Α2 Chain Cause Porencephaly
American Journal of Human Genetics
Genetics
Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood
American Journal of Human Genetics
Genetics
SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice
American Journal of Human Genetics
Genetics
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder
American Journal of Human Genetics
Genetics
Equivalent Missense Variant in the FOXP2 and FOXP1 Transcription Factors Causes Distinct Neurodevelopmental Disorders
Human Mutation
Genetics
Identification of biallelicLRRK1mutations in Osteosclerotic Metaphyseal Dysplasia and Evidence for Locus Heterogeneity
Journal of Medical Genetics
Genetics
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