71 件中 1 - 20 件目
英語 ：Tanabe H, Ijiri M, Takahashi K, Sasagawa H, Kamanaka T, Kuroda S, Sato H, Sarashina T, Mizukami Y, Makita Y & Okumura T , Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability , Human Genome Variation , 11 (13) , 2024
英語 ：Okano S, Makita Y, Miyamoto A, Taketazu G, Kimura K, Fukuda I, Tanaka H, Yanagi K & Kaname T, , GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy , Human Genome Variation, 10 (4) , 2023
英語 ：Akaba Y, Takeguchi R, Tanaka R, Makita Y, Kimura T, Yanagi K, Kaname T, I Nishino, Takahashi S , Wide Spectrum of Cardiac Phenotype in Myofibrillar Myopathy Associated With a Bcl-2-Associated Athanogene 3 Mutation: A Case Report and Literature Review. , CLINICAL NEUROMUSCULAR DISEASE, 24 (1) （49 - 54） , 2022
英語 ：Okano S, Makita Y, Kimura K, Fukuda I, Miyamoto A, Tanaka H , Wisconsin syndrome with brain volume laterality: clinical report and literature review , Journal of Medical Case Reports, 16 (1) , 2022
英語 ：Tanaka R, Takeguchi R, Kuroda M, Suzuki N, Makita Y, Yanagi K, Kaname T, and Satoru Takahashi , Novel NARS2 variant causing leigh syndrome with normal lactate levels. , Human Genome Variation, 9 (1) , 2022
英語 ：Nohara F, Tajima G, Sasai H, Makita Y , , MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM. , Human Genome Variation, 9 (1) , 2022
英語 ：Okano S, Miyamoto A, Makita Y, Taketazu G, Kimura K, Fukuda I, Tanaka H, Yanagi K, Kaname T. , Severe gastrointestinal symptoms caused by a novel DDX3X variant. , Europian Journal of Medical Genetics, 63 (12) , 2020 , （IF:2.708）
英語 ：Uchida N, Ohnishi T, Kojima T, Takahashi T, Makita Y, Fukami M, Shibata H, Hasegawa T, Ishii T. , Relapsing 6q24-related transient neonatal diabetes mellitus with insulin resistance: A case report , Clinical Pediatric Endocrinology, 29 (4) （179 - 182） , 2020 , （IF:1.04）
英語 ：Tanaka R, Takahashi S, Kuroda M, Takeguchi R, Suzuki N, Makita Y, Narumi-Kishimoto Y, Kaname T. , Biallelic SZT2 variants in a child with developmental and epileptic encephalopathy. , Epileptic Disorder, 22 (4) （501 - 505） , 2020 , （IF:1.276）
英語 ：Azuma N, Uchida T, Kikuchi S, Sadahiro M, Shintani T, Yanagi K, Higashita R, Yamashita A, Makita Y, Kaname T. , NT5E Genetic Mutation Is a Rare But Important Cause of Intermittent Claudication and Chronic Limb-Threatening Ischemia. , Circuration Journal, 25 (7) （1183 - 1188） , 2020 , （IF:2.54）
英語 ：Scott Bell, Justine Rousseau, Huashan Peng, Zahia Aouabed, Pierre Priam, Jean-Francois Theroux, Malvin Jefri, Arnaud Tanti, Hanrong Wu, Ilaria Kolobova, Heika Silviera, Karla Manzano-Vargas, Sophie Ehresmann, Fadi F. Hamdan, Nuwan Hettige, Xin Zhang, Lilit Antonyan, Christina Nassif, Lina Ghaloul-Gonzalez, Jessica Sebastian, Jerry Vockley, Amber G. Begtrup,6 Ingrid M. Wentzensen, Amy Crunk, Robert D. Nicholls, Kristin C. Herman, Joshua Deignan, Walla Al-Hertani, Stephanie Efthymiou, Vincenzo Salpietro, Noriko Miyake, Yoshio Makita, Naomichi Matsumoto, Rune Østern, Gunnar Houge,Maria Hafstro¨m, Emily Fassi, Helein Wassinknry Houlden, Jolien S. K-Ruiter, Dominic Nelson, Amy Goldstein, Tabib Dabir, Julien van G, Richard Delorme, Gregory M. Cooper, Jose E. Mils, Thomas Bourgeronartinez, Candice R. Finnila, Lionel Carmant, Anne Lortie, Renske Oegema, Koen van de Gassen, Sarju G. Mehta, Dagmar Huhle, Rami Abou Jamra , Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons , American Journal of Human Genetics, 104 (1) （1 - 20） , 2019
英語 ：Okano S, Makita Y, Katada A, Harabuchi Y, Kohmoto T, Naruto T, Masuda K, Imoto I. , Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I. , Human Genome Variation, 6 （8） , 2019
英語 ：Okano S, Miyamoto A, Fukuda I, Tanaka H, Hata K, Kaname T, Matsubara Y, Makita Y. , Genitopatellar syndrome: the first reported case in Japan. , Human Genome Variation, 5 （8） , 2018
英語 ：Kato T, Ouchi Y, Inagaki H, Makita Y, Mizuno S, Kajita M, Ikeda T, Takeuchi K, Kurahashi H. , Genomic Characterization of chromosomal insertions: Insight into the mechanisms underlying chromothipsis , Cytogenet Genome Res., 153 (1) （1 - 9） , 2017 , （IF:1.354）
英語 ：Uehara DT, Hayashi S, Okamoto N, Mizuno S, Chinen Y, Kosaki R, Kosho T, Kurosawa K, Matsumoto H, Mitsubuchi H, Numabe H, Saitoh S, Makita Y, Hata A, Imoto I, Inazawa J. , SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenitalanomalies previously negative for large rearrangements. , Journal of Human Genetics, 61 (4) （335 - 343） , 2016 , （IF:2.487）
英語 ：Miyatake S, Koshimizu E, Fujita A, Fukai R, Imagawa E, Ohba C, Kuki I, Nukui M, Araki A, Makita Y, Ogata T, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N. , Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach. , Journal of Human Genetics, 60 (4) （175 - 182） , 2015
英語 ：Maeda T, Higashimoto K, Jozaki K, Yatsuki H, Nakabayashi K, Makita Y, Tonoki H, Okamoto N, Takada F, Ohashi H, Migita M, Kosaki R, Matsubara K, Ogata T, Matsuo M, Hamasaki Y, Ohtsuka Y, Nishioka K, Joh K, Mukai T, Hata K, Soejima H. , Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations. , Gentic Medicine, 16 (12) （903 - 912） , 2014
英語 ：Nozu K, Vorechovsky I, Kaito H, Fu XJ, Nakanishi K, Hashimura Y, Hashimoto F, Kamei K, Ito S, Kaku Y, Imasawa T, Ushijima K, Shimizu J, Makita Y, Konomoto T, Yoshikawa N, Iijima K. , X-linked Alport syndrome caused by splicing mutations in COL4A5. , Clinical Journal of American Society of Nephrology., 9 (11) （1958 - 1964） , 2014
英語 ：Miyake N, Koshimizu E, Okamoto N, Mizuno S, Ogata T, Nagai T, Kosho T, Ohashi H, Kato M, Sasaki G, Mabe H, Watanabe Y, Yoshino M, Matsuishi T, Takanashi J, Shotelersuk V, Tekin M, Ochi N, Kubota M, Ito N, Ihara K, Hara T, Tonoki H, Ohta T, Saito K, Matsuo M, Urano M, Enokizono T, Sato A, Tanaka H, Ogawa A, Fujita T, Hiraki Y, Kitanaka S, Matsubara Y, Makita T, Taguri M, Nakashima M, Tsurusaki Y, Saitsu H, Yoshiura K, Matsumoto N, Niikawa N. , MLL2 and KDM6A mutations in patients with Kabuki syndrome. , American Journal of Medical Genetics, 161 (9) （2234 - 2243） , 2013
英語 ：Tsurusaki Y, Okamoto N, Ohashi H, Mizuno S, Matsumoto N, Makita Y, Fukuda M, Isidor B, Perrier J, Aggarwal S, Dalal AB, Al-Kindy A, Liebelt J, Mowat D, Nakashima M, Saitsu H, Miyake N, Matsumoto N. , Coffin-Siris syndrome is a SWI/SNF complex disorder. , Clinical Genetics, 85 (6) （548 - 554） , 2013
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