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  1. Research | 16 July 2020 | Open

    Molecular diagnosis of an infant with TSC2/PKD1 contiguous gene syndrome

    • Keita Osumi
    • , Kenichi Suga
    • , Akemi Ono
    • , Aya Goji
    • , Tatsuo Mori
    • , Yukiko Kinoshita
    • , Mikio Sugano
    • , Yoshihiro Toda
    • , Maki Urushihara
    • , Ryuji Nakagawa
    • , Yasunobu Hayabuchi
    • , Issei Imoto
    •  & Shoji Kagami
    Human Genome Variation 7 , 1–5
    Rights & permissionsfor article Molecular diagnosis of an infant with <i>TSC2</i>/<i>PKD1</i> contiguous gene syndrome . Opens in a new window.
  2. Research | 12 May 2016 | Open

    Detection of 1p36 deletion by clinical exome-first diagnostic approach

    • Miki Watanabe
    • , Yasunobu Hayabuchi
    • , Akemi Ono
    • , Takuya Naruto
    • , Hideaki Horikawa
    • , Tomohiro Kohmoto
    • , Kiyoshi Masuda
    • , Ryuji Nakagawa
    • , Hiromichi Ito
    • , Shoji Kagami
    •  & Issei Imoto
    Human Genome Variation 3 , 1–4
    Rights & permissionsfor article Detection of 1p36 deletion by clinical exome-first diagnostic approach . Opens in a new window.

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