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3 research outputs found
Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features
Author
Fukuda Tokiko
Hiraide Takuya
+6 more
Kawai Tomoko
Nakashima Mitsuko
Ogata Tsutomu
Saitsu Hirotomo
Yamoto Kaori
Yanagi Kumiko
Publication venue
'Elsevier BV'
Publication date
02/09/2020
Field of study
No full text
Institutional Repositories DataBase (IRDB)
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing
Author
Asahina Miki
Endoh Yusaku
+14 more
Fukuda Tokiko
Hiraide Takuya
Hirano Kouichi
Masunaga Yohei
Matsubayashi Tomoko
Nakashima Mitsuko
Ogata Tsutomu
Ohkubo Yumiko
Saitsu Hirotomo
Sugimura Haruhiko
Tsurui Satoshi
Yamada Hidetaka
Yamoto Kaori
Yanagi Kumiko
Publication venue
'Wiley'
Publication date
01/03/2022
Field of study
No full text
Institutional Repositories DataBase (IRDB)
De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformation
Author
B Isidor
B Tüysüz
+21 more
D Shimizu
Daisuke Shimizu
E Steichen-Gersdorf
Gen Nishimura
Hirotomo Saitsu
JA Kosmicki
JF McRae
JM Moore
K Kraft
Kaori Yamoto
L Bonafe
M Nakamura
M Urban
Maki Fukami
R Flöttmann
R Harripaul
R Savarirayan
Rieko Sakamoto
S Richards
TJ Cho
Tsutomu Ogata
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
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