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DNA Research : an International Journal for Rapid Publication of Reports on Genes and Genomes|May 15, 2004
Coordinate downregulation of a novel imprinted transcript ITUP1 with PEG3 in glioma cell linesShinji Maegawa, Noriko Itaba, Susumu Otsuka, et al.Human Genome Variation|February 2, 2017
A novel <i>SLC34A2</i> mutation in a patient with pulmonary alveolar microlithiasisHiroki Izumi, Jun Kurai, Masahiro Kodani, et al.Yonago Acta Medica|August 6, 2016
Clinical Diagnosis of Mendelian Disorders Using a Comprehensive Gene-Targeted Panel Test for Next-Generation SequencingTetsuya Okazaki, Megumi Murata, Masachika Kai, et al.Human Genome Variation|May 1, 2020
Duchenne muscular dystrophy-like phenotype in an LGMD2I patient with novel <i>FKRP</i> gene variantsTetsuya Okazaki, Kaori Matsuura, Noriko Kasagi, et al.Cell Structure and Function|March 5, 2015
Recurrent micronucleation through cell cycle progression in the presence of microtubule inhibitorsYuji Nakayama, Narumi Uno, Katsuhiro Uno, et al.Journal of Medicinal Chemistry|April 25, 2019
Pharmacological Chaperones for the Treatment of α-MannosidosisRocío Rísquez-Cuadro, Reimi Matsumoto, Fernando Ortega-Caballero, et al.Journal of Human Genetics|June 26, 2015
Chaperone therapy for Krabbe disease: potential for late-onset GALC mutationsMohammad Arif Hossain, Katsumi Higaki, Seiji Saito, et al.Molecular and Cellular Neurosciences|March 16, 2007
The TSC1 gene product hamartin interacts with NADESakiko Yasui, Kokoro Tsuzaki, Haruaki Ninomiya, et al.Clinical Endocrinology|February 8, 2012
Novel missense mutation in the IGF-I receptor L2 domain results in intrauterine and postnatal growth retardationYuki Kawashima, Katsumi Higaki, Toshiaki Fukushima, et al.American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|September 25, 2004
Association between the neurofibromatosis-1 (NF1) locus and autism in the Japanese populationTetsuya Marui, Ohiko Hashimoto, Eiji Nanba, et al.Pageof 15