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Publications by Minako Hoshiai

A De Novo 10.1-Mb 3p25 Terminal Deletion Including SETD5 in a Patient With Ptosis and Psychomotor Retardation

Pediatrics and Neonatology

English

Related publications

Phenotypic and Genetic Characterization of a Patient With a De Novo Interstitial 14q24.1q24.3 Deletion

Molecular Cytogenetics

Molecular Medicine

Molecular Biology

English

A 3.2 Mb Deletion on 18q12 in a Patient With Childhood Autism and High-Grade Myopia

European Journal of Human Genetics

English

Constitutional De Novo Deletion of the FBXW7 Gene in a Patient With Focal Segmental Glomerulosclerosis and Multiple Primitive Tumors

Scientific Reports

Multidisciplinary

English

Gonadal Mosaicism of Large Terminal De Novo Duplication and Deletion in Siblings With Variable Intellectual Disability Phenotypes

Molecular genetics & genomic medicine

Molecular Biology

English

Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 De Novo Deletion in a Patient With Van Den Ende-Gupta Syndrome

Molecular Syndromology

English

Long-Term Follow-Up of a Patient With 5q31.3 Microdeletion Syndrome and the Smallest De Novo 5q31.2q31.3 Deletion Involving PURA

Molecular Cytogenetics

Molecular Medicine

Molecular Biology

English

Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome

English

152 Excessive Glycerol Excretion in a Male Infaht With Psychomotor Retardation; Adrenocortical Insufficiency and Early Death

Pediatric Research

English

Bilateral Split Hand and Split Foot Malformation in a Boy With a De Novo Interstitial Deletion of 7q21.3

Journal of Medical Genetics

English