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American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|August 4, 2011
A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndromeYumi Takahashi, Kana Hosoki, Masafumi Matsushita, et al.
American Journal of Human Genetics|August 2, 2007
A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)Mitsuhiro Kato, Shinji Saitoh, Atsushi Kamei, et al.
European Journal of Medical Genetics|May 29, 2021
A case of ATR-X syndrome with mitochondrial respiratory chain dysfunctionKaori Aiba, Yuji Nakamura, Mari Sugimoto, et al.
The Journal of Clinical Endocrinology and Metabolism|August 8, 2018
Feeding-Induced Cortisol Response in Newborn InfantsMasahiro Kinoshita, Sachiko Iwata, Hisayoshi Okamura, et al.
Urology|March 29, 2016
Treatment Strategy for Pediatric Paratesticular Rhabdomyosarcoma Based on Chimeric Gene AssessmentRei Unno, Kentaro Mizuno, Yasuhiko Ito, et al.
Neuroimage|October 27, 2007
Aberrant somatosensory-evoked responses imply GABAergic dysfunction in Angelman syndromeKiyoshi Egawa, Naoko Asahina, Hideaki Shiraishi, et al.
Journal of Human Genetics|September 26, 2014
KIF1A mutation in a patient with progressive neurodegenerationNobuhiko Okamoto, Fuyuki Miya, Tatsuhiko Tsunoda, et al.
Journal of Pediatric Hematology/Oncology|January 17, 2012
Successful alternative treatment containing vindesine for acute lymphoblastic leukemia with Charcot-Marie-Tooth diseaseMizuho Ichikawa, Daisuke Suzuki, Jun Inamoto, et al.
Epilepsy Research|October 9, 2012
Magnetoencephalographic analysis of paroxysmal fast activity in patients with epileptic spasmsKeitaro Sueda, Fumiya Takeuchi, Hideaki Shiraishi, et al.
Prehospital and Disaster Medicine|April 7, 2022
A New Quantitative Triage System for Hospitalized Neonates to Assist with Decisions of Hospital Evacuation PrioritiesKazunori Imai, Tomoko Suzuki, Satoko Fukaya, et al.
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