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Publications by Shinji Saitoh
Congenital Goitrous Hypothyroidism Is Caused by Dysfunction of the Iodide Transporter SLC26A7
Communications Biology
Genetics
Molecular Biology
Biochemistry
Biological Sciences
Medicine
Agricultural
Peripartum Depression and Infant Care, Sleep and Growth
Scientific Reports
Multidisciplinary
Schaaf-Yang Syndrome Shows a Prader-Willi Syndrome-Like Phenotype During Infancy
Orphanet Journal of Rare Diseases
Medicine
Genetics
Pharmacology
Constitutive Activation of mTORC1 Signaling Induced by Biallelic Loss-Of-Function Mutations in SZT2 Underlies a Discernible Neurodevelopmental Disease
PLoS ONE
Multidisciplinary
Increased Protein Stability of CDKN1C Causes a Gain-Of-Function Phenotype in Patients With IMAGe Syndrome
PLoS ONE
Multidisciplinary
Visual Function Scale for Identification of Infants With Low Respiratory Compliance
Pediatrics and Neonatology
Child Health
Pediatrics
Perinatology
Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy
American Journal of Human Genetics
Genetics
Epimutation (Hypomethylation) Affecting the Chromosome 14q32.2 Imprinted Region in a Girl With Upd(14)mat-Like Phenotype
European Journal of Human Genetics
Genetics
