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Publications by Koh Tadokoro
A Unique Japanese CPEO Family With a Novel Homozygous M.14819 T > G (P. S25A) Substitution
Journal of the Neurological Sciences
Neurology
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Novel BRCA2 Pathogenic Variant C.5219 T > G; P.(Leu1740Ter) in a Consanguineous Senegalese Family With Hereditary Breast Cancer
BMC Medical Genetics
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A Novel Homozygous Missense Mutation in BHLHA9 Causes Mesoaxial Synostotic Syndactyly With Phalangeal Reduction in a Pakistani Family
Human Genome Variation
Biochemistry
Genetics
Molecular Biology
Identification of a Novel Homozygous Mutation, TMPRSS3: C.535G>A, in a Tibetan Family With Autosomal Recessive Non-Syndromic Hearing Loss
PLoS ONE
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Obesity Associated With a Novel Mitochondrial tRNACys 5802A>G Mutation in a Chinese Family
Bioscience Reports
Biochemistry
Cell Biology
Molecular Biology
Biophysics
No Live Individual Homozygous for a Novel Endoglin Mutation Was Found in a Consanguineous Arab Family With Hereditary Haemorrhagic Telangiectasia
Journal of Medical Genetics
Genetics
GNE Myopathy in Turkish Sisters With a Novel Homozygous Mutation
Case Reports in Neurological Medicine
The Last Departure Time From an M T /G/∞ Queue With a Terminating Arrival Process
Queueing Systems
Statistics
Probability
Management Science
Computer Science Applications
Mathematics
Computational Theory
Operations Research
A Novel Homozygous JAK3 Mutation Leading to T-B+nk– SCID in Two Brazilian Patients
Frontiers in Pediatrics
Child Health
Pediatrics
Perinatology
Novel Homozygous GBA2 Mutation in a Patient With Complicated Spastic Paraplegia
Clinical Neurology and Neurosurgery
Medicine
Surgery
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