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Publications by Sohya Kobayashi
First Cases of MPV17 Related Mitochondrial DNA Depletion Syndrome With Compound Heterozygous Mutations in p.R50Q/p.R50W: A Case Report
Hepatoma Research
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Novel Compound Heterozygous TMEM67 Variants in a Vietnamese Family With Joubert Syndrome: A Case Report
BMC Medical Genetics
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New DGK Gene Mutations in the Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome
Archives of Neurology
Mitochondrial DNA Depletion, Mitochondrial Mutations and High TFAM Expression in Hepatocellular Carcinoma
Oncotarget
Oncology
Congenital Dyserythropoietic Anemia Type 1: A Case With Novel Compound Heterozygous Mutations in the C15orf41 Gene
American Journal of Hematology
Hematology
Reduced Mitochondrial DNA Content and Heterozygous Nuclear Gene Mutations in Patients With Acute Liver Failure
Journal of Pediatric Gastroenterology and Nutrition
Child Health
Pediatrics
Perinatology
Gastroenterology
Novel Compound Heterozygous COG5 Mutations in a Chinese Male Patient With Severe Clinical Symptoms and Type�IIi Congenital Disorder of Glycosylation: A Case Report
Experimental and Therapeutic Medicine
Medicine
Cancer Research
Immunology
Microbiology
Compound Heterozygous Mutations P336L and I1660V in the Human Cardiac Sodium Channel Associated With the Brugada Syndrome
Circulation
Cardiovascular Medicine
Physiology
Cardiology
Mitochondrial DNA Depletion Syndrome Is Expressed in Amniotic Fluid Cell Cultures
American Journal of Pathology
Forensic Medicine
Pathology
A Prenatally Diagnosed Case of Meckel-Gruber Syndrome With Novel Compound Heterozygous Pathogenic Variants in the TXNDC15 Gene
Molecular genetics & genomic medicine
Genetics
Molecular Biology
