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Journal of Medical Genetics|November 28, 2017
Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutationsHirohito Shima, Katrin Koehler, Yumiko Nomura, et al.Plos One|March 19, 2014
TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemiaTsutomu Ogata, Tetsuya Niihori, Noriko Tanaka, et al.Journal of Human Genetics|January 9, 2015
Copy-number variations in Y-chromosomal azoospermia factor regions identified by multiplex ligation-dependent probe amplificationKazuki Saito, Mami Miyado, Yoshitomo Kobori, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|September 1, 2020
Screening for imprinting disorders in 58 patients with clinically diagnosed idiopathic short statureSayaka Kawashima, Hiroko Yagi, Yasuhiro Hirano, et al.Cytogenetic and Genome Research|March 14, 2015
Microhomology-mediated microduplication in the y chromosomal azoospermia factor a region in a male with mild asthenozoospermiaMomori Katsumi, Hiromichi Ishikawa, Yoko Tanaka, et al.European Journal of Medical Genetics|February 4, 2019
WDR11 is another causative gene for coloboma, cardiac anomaly and growth retardation in 10q26 deletion syndromeAkito Sutani, Hirohito Shima, Atsushi Hijikata, et al.Human Genome Variation|September 7, 2025
DHX37 variants in patients with 46,XY disorders or differences of sex developmentYuko Katoh-Fukui, Daisuke Saito, Hiroko Narumi, et al.Clinical Epigenetics|October 23, 2020
Genome-wide methylation analysis in Silver-Russell syndrome, Temple syndrome, and Prader-Willi syndromeKaori Hara-Isono, Keiko Matsubara, Tomoko Fuke, et al.Bone|November 4, 2018
Mouse polycomb group gene Cbx2 promotes osteoblastic but suppresses adipogenic differentiation in postnatal long bonesYuko Katoh-Fukui, Takashi Baba, Tetsuya Sato, et al.European Journal of Human Genetics : EJHG|May 1, 2018
Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short statureAntonino Montalbano, Lonny Juergensen, Maki Fukami, et al.Pageof 32