Manami Iso

发表

An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome

K. Okamura, Y. Matsubara, T. Kaname, 2018, Human Genome Variation.

Hypogonadotropic hypogonadism in a female patient previously diagnosed as having waardenburg syndrome due to a sox10 mutation

T. Ogata, A. Ohtake, S. Amemiya, 2015, Endocrine.

SOX10 mutation in Waardenburg syndrome type II

T. Ogata, N. Azuma, R. Horikawa, 2008, American journal of medical genetics. Part A.

Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion.

T. Ogata, M. Ono, M. Kaji, 2010, The Journal of clinical endocrinology and metabolism.

GATA3 abnormalities in six patients with HDR syndrome.

T. Ogata, Yoshimi Suzuki, K. Muroya, 2011, Endocrine journal.

Relationship between infantile mother preference and neural regions activated by maternal contact in C57BL/6 mice

T. Tsuboi, Y. Kondo, Kazuki Harada, 2022, Neuroscience Research.

Initiative on rare and undiagnosed diseases

Y. Kuroki, T. Kawai, K. Kosaki, 2017 .

The CFTR gene variants in Japanese children with idiopathic pancreatitis

T. Kaname, Y. Sakurai, K. Yanagi, 2019, Human Genome Variation.

A patient with a GNAO1 mutation with decreased spontaneous movements, hypotonia, and dystonic features

Mami Shibata, T. Kawai, Y. Okuno, 2018, Brain and Development.

Diabetes mellitus in a Japanese girl with HDR syndrome and GATA3 mutation.

Maki Fukami, Tsutomu Ogata, Mitsuo Itakura, 2010, Endocrine journal.

A patient with a GNAO1 mutation with decreased spontaneous movements, hypotonia, and dystonic features

Mami Shibata, T. Kawai, Y. Okuno, 2018, Brain and Development.