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Human Genome Variation|June 13, 2020
De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypesYuto Kondo, Kohei Aoyama, Hisato Suzuki, et al.HGG Advances|August 22, 2024
Genotype-phenotype correlation over time in Angelman syndrome: Researching 134 patientsMasanori Fujimoto, Yuji Nakamura, Kana Hosoki, et al.Epilepsy & Behavior : E&B|July 23, 2020
Behavioral problems and family distress in tuberous sclerosis complexMitsugu Uematsu, Yurika Numata-Uematsu, Yu Aihara, et al.Journal of Human Genetics|October 10, 2020
The identification of two pathogenic variants in a family with mild and severe forms of developmental delayNoriko Miyake, Shermineh Heydari, Masoud Garshasbi, et al.Frontiers in Endocrinology|August 1, 2022
High Maternal Total Cholesterol Is Associated With No-Catch-up Growth in Full-Term SGA Infants: The Japan Environment and Children's StudyKayo Kaneko, Yuki Ito, Takeshi Ebara, et al.Thrombosis and Haemostasis|February 6, 2019
Endometriosis and Recurrent Pregnancy Loss as New Risk Factors for Venous Thromboembolism during Pregnancy and Post-Partum: The JECS Birth CohortMayumi Sugiura-Ogasawara, Takeshi Ebara, Taro Matsuki, et al.American Journal of Physiology. Lung Cellular and Molecular Physiology|December 26, 2014
Macitentan reverses early obstructive pulmonary vasculopathy in rats: early intervention in overcoming the survivin-mediated resistance to apoptosisTsutomu Shinohara, Hirofumi Sawada, Shoichiro Otsuki, et al.European Journal of Human Genetics : EJHG|September 22, 2016
Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathyMakiko Tsutsumi, Setsuri Yokoi, Fuyuki Miya, et al.Journal of Human Genetics|June 23, 2017
Siblings with optic neuropathy and RTN4IP1 mutationNobuhiko Okamoto, Fuyuki Miya, Yoshikazu Hatsukawa, et al.Pediatrics International : Official Journal of the Japan Pediatric Society|December 1, 2015
Single nucleotide polymorphisms in AGTR1, TFAP2B, and TRAF1 are not associated with the incidence of patent ductus arteriosus in Japanese preterm infantsKoya Kawase, Tokio Sugiura, Yoshiaki Nagaya, et al.Pageof 27