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3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome
Tadaka, Shu, Katsuoka, Fumiki, Ueki, Masao, Kojima, Kaname, Makino, Satoshi, Saito, Sakae, Otsuki, Akihito, Gocho, Chinatsu, Sakurai-Yageta, Mika, Danjoh, Inaho, Motoike, Ikuko N., Yamaguchi-Kabata, Yumi, Shirota, Matsuyuki, Koshiba, Seizo, Nagasaki, Masao, Minegishi, Naoko, Hozawa, Atsushi, Kuriyama, Shinichi, Shimizu, Atsushi, Yasuda, Jun, Fuse, Nobuo, Tamiya, Gen, Yamamoto, Masayuki, Kinoshita, Kengo
Published in Human genome variation (18.06.2019)
Published in Human genome variation (18.06.2019)
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TogoVar: A comprehensive Japanese genetic variation database
Mitsuhashi, Nobutaka, Toyo-oka, Licht, Katayama, Toshiaki, Kawashima, Minae, Kawashima, Shuichi, Miyazaki, Kazunori, Takagi, Toshihisa
Published in Human genome variation (12.12.2022)
Published in Human genome variation (12.12.2022)
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Genetic architecture of left ventricular noncompaction in adults
Ross, Samantha Barratt, Singer, Emma S., Driscoll, Elizabeth, Nowak, Natalie, Yeates, Laura, Puranik, Rajesh, Sy, Raymond W., Rajagopalan, Sulekha, Barratt, Alexandra, Ingles, Jodie, Bagnall, Richard D., Semsarian, Christopher
Published in Human genome variation (15.10.2020)
Published in Human genome variation (15.10.2020)
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The Qatar genome: a population-specific tool for precision medicine in the Middle East
Fakhro, Khalid A, Staudt, Michelle R, Ramstetter, Monica Denise, Robay, Amal, Malek, Joel A, Badii, Ramin, Al-Marri, Ajayeb Al-Nabet, Khalil, Charbel Abi, Al-Shakaki, Alya, Chidiac, Omar, Stadler, Dora, Zirie, Mahmoud, Jayyousi, Amin, Salit, Jacqueline, Mezey, Jason G, Crystal, Ronald G, Rodriguez-Flores, Juan L
Published in Human genome variation (30.06.2016)
Published in Human genome variation (30.06.2016)
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Genetic variability in COVID-19-related genes in the Brazilian population
Secolin, Rodrigo, de Araujo, Tânia K., Gonsales, Marina C., Rocha, Cristiane S., Naslavsky, Michel, Marco, Luiz De, Bicalho, Maria A. C., Vazquez, Vinicius L., Zatz, Mayana, Silva, Wilson A., Lopes-Cendes, Iscia
Published in Human genome variation (02.04.2021)
Published in Human genome variation (02.04.2021)
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Distribution of CCR5-Δ32 and HLA-B57:01 alleles in HIV-seropositive and HIV-exposed seronegative Peruvian individuals
Echavarria-Correa, Susan M., Obispo-Achallma, Daisy, Espetia Anco, Susan, Guevara, Maria Luisa, Acosta Conchucos, Oscar, Dedios, María Isabel, Mamani Zapana, Enrique, Fujita Alarcón, Ricardo, Yabar, Carlos Augusto
Published in Human genome variation (26.08.2025)
Published in Human genome variation (26.08.2025)
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Novel SKIC3 variants in tricho-hepato-enteric syndrome with hemochromatosis
Ochiai, Kayo, Aoki, Yoshinori, Yamada, Naoshi, Aman, Murasaki, Yamashita, Atsushi, Yamaguchi, Masatoshi, Nakato, Daisuke, Takenouchi, Toshiki, Kosaki, Kenjiro, Kodama, Yuki, Moritake, Hiroshi
Published in Human genome variation (18.07.2025)
Published in Human genome variation (18.07.2025)
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Prevalence of pharmacogenomic variants in 100 pharmacogenes among Southeast Asian populations under the collaboration of the Southeast Asian Pharmacogenomics Research Network (SEAPharm)
Runcharoen, Chakkaphan, Fukunaga, Koya, Sensorn, Insee, Iemwimangsa, Nareenart, Klumsathian, Sommon, Tong, Hang, Vo, Nam Sy, Le, Ly, Hlaing, Tin Maung, Thant, Myo, Zain, Shamsul Mohd, Mohamed, Zahurin, Pung, Yuh-Fen, Capule, Francis, Nevado, Jose, Silao, Catherine Lynn, Al-Mahayri, Zeina N., Ali, Bassam R., Yuliwulandari, Rika, Prayuni, Kinasih, Zahroh, Hilyatuz, Noor, Dzul Azri Mohamed, Xangsayarath, Phonepadith, Xayavong, Dalouny, Kounnavong, Sengchanh, Sayasone, Somphou, Kordou, Zoe, Liopetas, Ioannis, Tsikrika, Athina, Tsermpini, Evangelia-Eirini, Koromina, Maria, Mitropoulou, Christina, Patrinos, George P., Kesornsit, Aumpika, Charoenyingwattana, Angkana, Wattanapokayakit, Sukanya, Mahasirimongkol, Surakameth, Mushiroda, Taisei, Chantratita, Wasun
Published in Human genome variation (04.02.2021)
Published in Human genome variation (04.02.2021)
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Recurrent cellulitis associated with lymphoedema in Noonan syndrome: case reports with RIT1 variants and literature review
Kobayashi, Yuki, Adachi, Takeya, Tahara, Umi, Tanaka, Moemi, Arakawa, Hiroki, Funatsu, Yohei, Moritani, Kazunori, Yamada, Mamiko, Kosaki, Kenjiro, Inazumi, Toyoko
Published in Human genome variation (04.06.2025)
Published in Human genome variation (04.06.2025)
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A Japanese patient with hereditary spastic paraplegia with a rare KIF5A nonsense variant
Miura, Shiroh, Suenaga, Seria, Goto, Hana, Wang, Zhaonan, Makino, Akane, Fan, Luoming, Senzaki, Kensuke, Ochi, Masayuki, Ohyagi, Yasumasa, Shibata, Hiroki
Published in Human genome variation (02.06.2025)
Published in Human genome variation (02.06.2025)
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Partial monosomy 18p and 21q due to a paternal reciprocal translocation leading to holoprosencephaly
Wakabayashi, Hiroko, Matsumoto, Ayumi, Komori, Sakiko, Goto, Masahide, Tajima, Toshihiro, Sasaki, Aiko, Matsumura, Takayoshi, Yamagata, Takanori
Published in Human genome variation (30.05.2025)
Published in Human genome variation (30.05.2025)
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De novo CDKN1C variant in Beckwith–Wiedermann spectrum with atypical complications
Moriura, Yuri, Nishio, Yosuke, Ichimura, Shintaro, Noda, Haruka, Tanahashi, Yoshihiro, Yamamoto, Hikaru, Nakazawa, Yuka, Oso, Taichi, Sato, Yoshiaki, Takenouchi, Toshiki, Saitoh, Shinji, Muramatsu, Yukako, Ogi, Tomoo
Published in Human genome variation (28.05.2025)
Published in Human genome variation (28.05.2025)
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Two novel pathogenic PDX1 variants in two Japanese patients with maturity-onset diabetes of the young
Tanaka, Satoshi, Akagawa, Hiroyuki, Hase, Michiyo, Iwasaki, Naoko
Published in Human genome variation (16.05.2025)
Published in Human genome variation (16.05.2025)
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Successful birth after preimplantation genetic testing for rare mitochondrial DNA mutation m.10197G>A
Mizuguchi, Yuki, Sueoka, Kou, Sato, Suguru, Tanaka, Mamoru
Published in Human genome variation (01.04.2025)
Published in Human genome variation (01.04.2025)
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Nonrecurrent 17p duplications in two patients with developmental and neurological abnormalities
Lee, Ah Jin, Pi, Byung Kwon, Nam, Soo Hyun, Kim, Hyun Su, Choi, Byung-Ok, Chung, Ki Wha
Published in Human genome variation (26.03.2025)
Published in Human genome variation (26.03.2025)
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The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis
Yagi, Shusuke, Miyamoto, Ryosuke, Tasaki, Masayoshi, Morino, Hiroyuki, Otani, Ryuji, Kadota, Muneyuki, Ise, Takayuki, Yamazaki, Hiroki, Kusunose, Kenya, Yamaguchi, Koji, Yamada, Hirotsugu, Soeki, Takeshi, Wakatsuki, Tetsuzo, Fukuda, Daiju, Ueda, Mitsuharu, Sata, Masataka
Published in Human genome variation (16.08.2024)
Published in Human genome variation (16.08.2024)
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