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Publications by Kunihiro Matsunami
Infantile Cases of Sitosterolaemia With Novel Mutations in the ABCG5 Gene: Extreme Hypercholesterolaemia Is Exacerbated by Breastfeeding
JIMD Reports
Internal Medicine
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Related publications
220 Two Cases of Hypohidrotic Ectodermal Dysplasia Caused by Novel Mutations in the EDA Gene
Journal of Investigative Dermatology
Biochemistry
Dermatology
Cell Biology
Molecular Biology
Bietti Crystalline Corneoretinal Dystrophy Is Caused by Mutations in the Novel Gene CYP4V2
American Journal of Human Genetics
Genetics
Four Cases of Autosomal Dominant Hypocalcaemia With Hypercalciuria Including Two With Novel Mutations in the Calcium-Sensing Receptor Gene
Annals of Clinical Biochemistry
Medicine
Clinical Biochemistry
Transcobalamin II Deficiency in Four Cases With Novel Mutations
Turkish Journal of Haematology
Hematology
Infantile Epilepsy With Multifocal Myoclonus Caused by TBC1D24 Mutations
Seizure : the journal of the British Epilepsy Association
Medicine
Neurology
ABCG5/G8 Gene Is Associated With Hypercholesterolemias Without Mutation in Candidate Genes and Noncholesterol Sterols
Journal of Clinical Lipidology
Internal Medicine
Nutrition
Cardiology
Endocrinology
Cardiovascular Medicine
Dietetics
Metabolism
Diabetes
Epidermolysis Bullosa Simplex Associated With Pyloric Atresia Is a Novel Clinical Subtype Caused by Mutations in the Plectin Gene (PLEC1)
Journal of Molecular Diagnostics
Forensic Medicine
Pathology
Molecular Medicine
Infantile and Early Childhood Onset of Mitochondrial Myopathy Due to Mutations in the TK2 Gene With a Phenotype of Spinal Muscular Atrophy 5q: The First Cases in Russia
Nervno-Myshechnye Bolezni
Neurology
Novel Mutations in of the ABCR Gene in Italian Patients With Stargardt Disease
Eye
Medicine
Arts
Sensory Systems
Ophthalmology
Humanities
