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Publications by Toru Ibi
Compound Heterozygous Mutations in the Muscle Chloride Channel Gene (CLCN1) in a Japanese Family With Thomsen’s Disease
Clinical Neurology
Neurology
Related publications
CLCN1 Mutations in Czech Patients With Myotonia Congenita, in Silico Analysis of Novel and Known Mutations in the Human Dimeric Skeletal Muscle Chloride Channel
PLoS ONE
Multidisciplinary
Congenital Dyserythropoietic Anemia Type 1: A Case With Novel Compound Heterozygous Mutations in the C15orf41 Gene
American Journal of Hematology
Hematology
Compound Heterozygous Mutations P336L and I1660V in the Human Cardiac Sodium Channel Associated With the Brugada Syndrome
Circulation
Cardiovascular Medicine
Physiology
Cardiology
A Novel Compound Heterozygous Variant Identified in GLDC Gene in a Chinese Family With Non-Ketotic Hyperglycinemia
BMC Medical Genetics
Genetics
Novel Compound Heterozygous Mutations in the Pantothenate Kinase 2 Gene in a Korean Patient With Atypical Pantothenate Kinase Associated Neurodegeneration
Journal of Movement Disorders
Clinical Spectrum of Homozygous and Heterozygous PINK1 Mutations in a Large German Family With Parkinson Disease
Archives of Neurology
Phenotypic Difference of CLCN1 Gene Variant (A313T) in a Korean Family With Myotonia Congenita
Journal of the Korean Neurological Association
Novel Compound Heterozygous TMEM67 Variants in a Vietnamese Family With Joubert Syndrome: A Case Report
BMC Medical Genetics
Genetics
Early Onset Mandibuloacral Dysplasia Due to Compound Heterozygous Mutations in ZMPSTE24
American Journal of Medical Genetics, Part A
Genetics
