Doi, Hiroshi

Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome

Miyake, N., Kosho, T., Mizumoto, S., Furuichi, T., Hatamochi, A., Nagashima, Y., Arai, E., Takahashi, K., Kawamura, R., Wakui, K., et al. (2010) · Human Mutation

Connective tissue disorders researchProteoglycans and glycosaminoglycans research

Cited by 156

A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34

Ozaki, K., Doi, H., Mitsui, J., Sato, N., Iikuni, Y., Majima, T., Yamane, K., Irioka, T., Ishiura, H., Doi, K., et al. (2015) · JAMA Neurology

Genetic Neurodegenerative DiseasesHereditary Neurological Disorders

Cited by 81

Exome sequencing of two patients in a family with atypical X‐linked leukodystrophy

Tsurusaki, Y., Okamoto, N., Suzuki, Y., Doi, H., Saitsu, H., Miyake, N., & Matsumoto, N. (2011) · Clinical Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 9