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Publications by Koji Yokoyama
Two Siblings With Congenital Central Hypothyroidism Caused by a Novel Mutation in the IGSF1 Gene
Clinical Pediatric Endocrinology
Child Health
Endocrinology
Perinatology
Pediatrics
Metabolism
Diabetes
Related publications
Congenital Central Hypothyroidism Due to a Homozygous Mutation in theTSHβSubunit Gene
Case Reports in Pediatrics
A Homozygous Nonsense Thyroid Peroxidase Mutation (R540X) Consistently Causes Congenital Hypothyroidism in Two Siblings Born to a Consanguineous Family
JCRPE Journal of Clinical Research in Pediatric Endocrinology
Child Health
Endocrinology
Perinatology
Pediatrics
Metabolism
Diabetes
Gordon Holmes Syndrome Caused by RNF216 Novel Mutation in 2 Argentinean Siblings
Movement Disorders Clinical Practice
Neurology
A Novel Mutation in the TG Gene (G2322S) Causing Congenital Hypothyroidism in a Sudanese Family: A Case Report
BMC Medical Genetics
Genetics
Dyskeratosis Congenita Caused by a Novel TERT Point Mutation in Siblings With Pancytopenia and Exudative Retinopathy
Pediatric Blood and Cancer
Oncology
Child Health
Hematology
Perinatology
Medicine
Pediatrics
A Novel Mutation of Laminin Β2 (LAMB2) in Two Siblings With Renal Failure
European Journal of Pediatrics
Child Health
Pediatrics
Perinatology
Hyperimmunoglobulinaemia D Syndrome in India: Report of Two Siblings With a Novel Mutation
Annals of the Rheumatic Diseases
Immunology
Molecular Biology
Biochemistry
Rheumatology
Allergy
Genetics
Outcome of 3 Siblings With Antibody-Mediated Transient Congenital Hypothyroidism
Pediatric Research
Child Health
Pediatrics
Perinatology
Mutation Screening of the Thyroid Peroxidase Gene in a Cohort of 55 Portuguese Patients With Congenital Hypothyroidism
European Journal of Endocrinology
Medicine
Endocrinology
Metabolism
Diabetes
