Junya Nakajima

<i><scp>D</scp>e novo <scp>EEF1A2</scp></i> mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy

Junya Nakajima, Nobuhiko Okamoto, Jun Tohyama et al. · Clinical Genetics · 2014 · 84 citations

A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2

Junya Nakajima, Tuba Eminoğlu, Göksel Vatansever et al. · Journal of Human Genetics · 2014 · 31 citations · Full text

Lactic Acidosis, Mendelian Disorder, Sideroblastic Anemia 2 +9

Novel FIG4 mutations in Yunis–Varon syndrome

Junya Nakajima, Nobuhiko Okamoto, Jun Shiraishi et al. · Journal of Human Genetics · 2013 · 18 citations · Full text

Novel Fig4 Mutations, Genetic Disorder, Medicine +6

Reversible basal ganglia lesions in neuropsychiatric lupus: a report of three pediatric cases

Satoshi Sato, Junya Nakajima, Masaru Shimura et al. · International Journal of Rheumatic Diseases · 2014 · 16 citations

Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism

Daisuke Miyamichi, Miki Asahina, Junya Nakajima et al. · Journal of Human Genetics · 2016 · 11 citations · Full text

Molecular Diagnostic Techniques, Genetic Disorder, Whole-exome Sequencing +10