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Human Genome Variation|September 6, 2023
Novel SPEG variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotoniaHana Milena Fujimoto, Masanori Fujimoto, Takahiro Sugiura, et al.
The Journal of Pediatrics|February 10, 2016
Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation SequencingTakao Togawa, Tokio Sugiura, Koichi Ito, et al.
BMC Sports Science, Medicine & Rehabilitation|September 16, 2024
Effect of swimming initiation period and continuation frequency on motor competence development in children aged up to 3 years: the Japan environment and children's studyHirohisa Kano, Takeshi Ebara, Taro Matsuki, et al.
Communications Biology|August 3, 2019
Congenital goitrous hypothyroidism is caused by dysfunction of the iodide transporter SLC26A7Jun Ishii, Atsushi Suzuki, Toru Kimura, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 23, 2017
Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patientsMasayo Kagami, Keisuke Nagasaki, Rika Kosaki, et al.
Clinical Journal of Gastroenterology|January 4, 2020
Successful treatment of adult-onset type II citrullinemia with a low-carbohydrate diet and L-arginine after DNA analysis produced a definitive diagnosisSatoshi Unita, Noboru Hirashima, Masaaki Shimada, et al.
Epilepsia|June 30, 2015
Seizure characteristics of epilepsy in childhood after acute encephalopathy with biphasic seizures and late reduced diffusionYuji Ito, Jun Natsume, Hiroyuki Kidokoro, et al.
Journal of Human Genetics|April 28, 2019
Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palateKoji Kato, Fuyuki Miya, Ikumi Hori, et al.
Children (Basel, Switzerland)|March 29, 2023
Relationship between Birth Order and Postnatal Growth until 4 Years of Age: The Japan Environment and Children's StudyAya Yoshida, Kayo Kaneko, Kohei Aoyama, et al.
Scientific Reports|August 9, 2018
Estimation of elevated intracranial pressure in infants with hydroce-phalus by using transcranial Doppler velocimetry with fontanel compressionTeiko Yoshizuka, Masahiro Kinoshita, Sachiko Iwata, et al.
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