Hiroyo Mabe

<i>MLL2</i> and <i>KDM6A</i> mutations in patients with Kabuki syndrome

Noriko Miyake, Eriko Koshimizu, Nobuhiko Okamoto et al. · American Journal of Medical Genetics Part A · 2013 · 174 citations · Full text

Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure

Noritaka Iwatani, Hiroyo Mabe, K Devriendt et al. · The Journal of Pediatrics · 2000 · 169 citations

Nkx2.1 Gene, Genetics, Thyroid Disease +9

The Pharmacological Characteristics of Molecular-Based Inherited Salt-Losing Tubulopathies

Kandai Nozu, Kazumoto Iijima, Kyoko Kanda et al. · The Journal of Clinical Endocrinology & Metabolism · 2010 · 62 citations · Full text

Identification of mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with early-onset NIDDM and functional analysis of the mutant proteins.

Shirou Yamada, Hideaki Tomura, Hidekazu Nishigori et al. · Diabetes · 1999 · 54 citations

Hepatology, Early-onset Niddm, Liver Physiology +9

NEUROD1‐deficient diabetes ( <scp>MODY6</scp> ): Identification of the first cases in Japanese and the clinical features

Yukio Horikawa, Mayumi Enya, Hiroyo Mabe et al. · Pediatric Diabetes · 2017 · 46 citations