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Publications by Masatoshi Ohtake
ACTN1 Mutations Cause Congenital Macrothrombocytopenia
American Journal of Human Genetics
Genetics
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Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts
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Homozygous Loss-Of-Function Mutations in SLC26A7 Cause Goitrous Congenital Hypothyroidism
Yearbook of Paediatric Endocrinology
A Novel GFI1B Mutation at the First Zinc Finger Domain Causes Congenital Macrothrombocytopenia
British Journal of Haematology
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Feline Congenital Erythropoietic Porphyria: Two Homozygous UROS Missense Mutations Cause the Enzyme Deficiency and Porphyrin Accumulation
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Activating Mutations in Stim1 and Orai1 Cause Overlapping Syndromes of Tubular Aggregate Myopathy and Congenital Miosis
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CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder
American Journal of Human Genetics
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LRIG2 Mutations Cause Urofacial Syndrome
American Journal of Human Genetics
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Mutations in SOX2 Cause Anophthalmia
Nature Genetics
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Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia
American Journal of Human Genetics
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