T. Ohata

发表

A −16C>T substitution in the 5′ UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano

Y. Fukushima, N. Matsumoto, Kunihiro Yoshida, 2006, Journal of Human Genetics.

Physicians' opinion for ‘new’ genetic testing in Japan

F. Takada, A. Tsuchiya, T. Ohata, 2009, Journal of Human Genetics.

FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly

N. Matsumoto, H. Saitsu, T. Mizuguchi, 2007, American journal of medical genetics. Part A.

Genetic association analysis of 269 rare diseases reveals novel aetiologies

I. Yamanaka, S. Riazuddin, S. Mansour, 2022, medRxiv.

Complete hydatidiform mole and normal live birth following intracytoplasmic sperm injection

N. Matsumoto, F. Hirahara, T. Mizuguchi, 2006, Journal of Human Genetics.

Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Albert David, 2010, Human mutation.

Genetic association analysis of 77,539 genomes reveals rare disease etiologies

B. Gelb, I. Yamanaka, S. Riazuddin, 2023, Nature Medicine.

Severity and Progression Rate of Cerebellar Ataxia in 16q-linked Autosomal Dominant Cerebellar Ataxia (16q-ADCA) in the Endemic Nagano Area of Japan

Naomichi Matsumoto, Kunihiro Yoshida, Shinji Ohara, 2009, The Cerebellum.

[Survey on the attitude toward genetic testing of neurologists certified by the Japanese Society of Neurology].

Kunihiro Yoshida, S. Ikeda, T. Toda, 2013, Rinsho shinkeigaku = Clinical neurology.

Risk Factors of Preterm Birth in Okinawa Prefecture, the Southernmost Island Prefecture of Japan

K. Iseki, C. Iseki, Y. Aoki, 2022, Maternal and Child Health Journal.

Synergic interaction between ritodrine and magnesium sulfate on the occurrence of critical neonatal hyperkalemia: A Japanese nationwide retrospective cohort study

N. Yonemoto, K. Maruyama, H. Kanda, 2020, Scientific Reports.

A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano.

Y. Fukushima, N. Matsumoto, Kunihiro Yoshida, 2006, Journal of human genetics.

Synergic interaction between ritodrine and magnesium sulfate on the occurrence of critical neonatal hyperkalemia: A Japanese nationwide retrospective cohort study

N. Yonemoto, K. Maruyama, H. Kanda, 2020, Scientific Reports.