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Molecular diagnosis of 405 individuals with autism spectrum disorder

Noriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, Itaru Kushima, Nobuhiko Okamoto, Kei Ohashi, Kazuhiko Nakamura, Ryota Hashimoto, Yoko Hiraki, Shuraku Son, Mitsuhiro Kato, Yasunari Sakai, Hitoshi Osaka, Kimiko Deguchi, Toyojiro Matsuishi, Saoko Takeshita, Aviva Fattal‐Valevski, Nina Ekhilevitch, Jun Tohyama, Patrick Yap, Wee Teik Keng, Hiroshi Kobayashi, Keiyo Takubo, Takashi Okada, Shinji Saitoh, Yuka Yasuda, Toshiya Murai, Kazuyuki Nakamura, Shouichi Ohga, Ayumi Matsumoto, Ken Inoue, Tomoko Saikusa, Tova Hershkovitz, Yu Kobayashi, Mako Morikawa, Aiko Ito, Toshiro Hara, Yota Uno, Chizuru Seiwa, Kanako Ishizuka, Emi Shirahata, Atsushi Fujita, Eriko Koshimizu, Satoko Miyatake, Atsushi Takata, Takeshi Mizuguchi, Norio Ozaki, Naomichi Matsumoto

2023European Journal of Human Genetics23 citationsDOIOpen Access PDF

Topics & Concepts

Sanger sequencingExome sequencingCopy-number variationIndelAutism spectrum disorderMolecular geneticsGeneticsMultiplex ligation-dependent probe amplificationMedical geneticsMolecular pathologyGenetic counselingBiologyMultiplexDiseaseMedicineDNA sequencingGenotypeAutismMutationSingle-nucleotide polymorphismInternal medicineGenomeGenePsychiatryExonGenomic variations and chromosomal abnormalitiesAutism Spectrum Disorder ResearchGenomics and Rare Diseases
Molecular diagnosis of 405 individuals with autism spectrum disorder | Litcius