Naoki Yamaguchi

A Novel Mutation of desert hedgehog in a Patient with 46,XY Partial Gonadal Dysgenesis Accompanied by Minifascicular Neuropathy

Fujio Umehara, Genshu Tate, K Itoh et al. · The American Journal of Human Genetics · 2000 · 198 citations · Full text

Life Sciences, Genetics, Neurology +16

A Novel Mutation of<i>desert hedgehog</i>in a Patient with 46,XY Partial Gonadal Dysgenesis Accompanied by Minifascicular Neuropathy

Fujio Umehara, Genshu Tate, K Itoh et al. · The American Journal of Human Genetics · 2000 · 148 citations

Life Sciences, Genetics, Neurology +14

Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia

Tomotsugu Yasuda, Naoki Yamaguchi, Keiko Kobayashi et al. · Human Genetics · 2000 · 133 citations

Life Sciences, Genetics, Molecular Genetics +9

Infantile cholestatic jaundice associated with adult-onset type II citrullinemia

Yusaku Tazawa, Keiko Kobayashi, Toshihiro Ohura et al. · The Journal of Pediatrics · 2001 · 116 citations

Medicine, Internal Medicine, Pathology +12

Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations

Naoki Yamaguchi, Keiko Kobayashi, Tomotsugu Yasuda et al. · Human Mutation · 2002 · 101 citations

Life Sciences, Genetics, Molecular Genetics +17