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Publications by Noriko Miyake
Cover Image, Volume 38, Issue 3
Human Mutation
Genetics
A Novel GFI1B Mutation at the First Zinc Finger Domain Causes Congenital Macrothrombocytopenia
British Journal of Haematology
Hematology
DNA Methylation Analysis of Multiple Imprinted DMRs in Sotos Syndrome Reveals IGF2 ‐DMR0 as a DNA Methylation‐dependent, P0 Promoter‐specific Enhancer
FASEB Journal
Biochemistry
Biotechnology
Genetics
Molecular Biology
Medicine
De Novo Truncating Variants in PHF21A Cause Intellectual Disability and Craniofacial Anomalies
European Journal of Human Genetics
Genetics
Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome
Genes
Genetics
Long-Read DNA Sequencing Fully Characterized Chromothripsis in a Patient With Langer–Giedion Syndrome and Cornelia De Lange Syndrome-4
Journal of Human Genetics
Genetics
A Founder Mutation of CANT1 Common in Korean and Japanese Desbuquois Dysplasia
Journal of Human Genetics
Genetics
The Diagnostic Utility of Exome Sequencing in Joubert Syndrome and Related Disorders
Journal of Human Genetics
Genetics
Corrigendum: Ultra–sensitive Droplet Digital PCR for Detecting a Low–prevalence Somatic GNAQ Mutation in Sturge–Weber Syndrome
Scientific Reports
Multidisciplinary
SOFT Syndrome in a Patient From Chile
American Journal of Medical Genetics, Part A
Genetics
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