Shinji Saitoh
0000-0001-6911-3351
Nagoya City University
150 papers found
Refreshing results…
Jansky-Bielschowsky disease
Spielmeyer-Vogt-Sjögren disease
Wide clinical variability in a family with a CACNA1A T666m mutation: hemiplegic migraine, coma, and progressive ataxia
Machado-Joseph disease
Neuropathy, hereditary recurrent brachial
Angelman syndrome
Neuronal ceroid-lipofuscinosis
Satoyoshi syndrome
Marinesco-Sjögren syndrome
Neuropathy, congenital motor & sensory-skeletal-laryngeal defects
Neuropathy, giant axonal
Neuropathy, hereditary motor and sensory type I, II, hereditary with pressure palsies
Olivopontocerebellar atrophy
Night blindness, congenital
Ocular motor apraxia, Cogan congenital type
Optic nerve hypoplasia
Parent-of-origin specific histone acetylation and reactivation of a key imprinted gene locus in Prader-Willi syndrome.
Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome
Marshall syndrome
Marshall-Smith syndrome
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