换一批Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment
第一作者：
Fiordaliso, Sarah K.
作者：
Fiordaliso, Sarah K. [1]
;
Iwata-Otsubo, Aiko [2]
;
Ritter, Alyssa L. [3]
;
Quesnel-Vallieres, Mathieu [4]
;
Fujiki, Katsunori [5]
;
Nishi, Eriko [6]
;
Hancarova, Miroslava [7]
;
Miyake, Noriko [8]
;
Morton, Jenny E. V. [9]
;
Lee, Sangmoon [10]
;
Hackmann, Karl [11]
;
Bando, Masashige [12]
;
Masuda, Koji [13]
;
Nakato, Ryuichiro [14]
;
Arakawa, Michiko [15]
;
Bhoj, Elizabeth [16]
;
Li, Dong [17]
;
Hakonarson, Hakon ;
Takeda, Ryojun ;
Harr, Margaret ;
Keena, Beth ;
Zackai, Elaine H. ;
Okamoto, Nobuhiko ;
Mizuno, Seiji ;
Ko, Jung Min ;
Valachova, Alica ;
Prchalova, Darina ;
Vlckova, Marketa ;
Pippucci, Tommaso ;
Seiler, Christoph ;
Choi, Murim ;
Matsumoto, Naomichi ;
Di Donato, Nataliya ;
Barash, Yoseph ;
Sedlacek, Zdenek ;
Shirahige, Katsuhiko ;
Izumi, Kosuke
作者单位：
Charles Univ Prague,Charles Univ Prague, Fac Med 2, Dept Biol & Med Genet, Prague 15006, Czech
[1]
Childrens Hosp Philadelphia,Childrens Hosp Philadelphia, Div Human Genet, Dept Pediat, Philadelphia
[2]
Univ Penn,Univ Penn, Perelman Sch Med, Dept Genet, Philadelphia, PA 19104 USA
[3]
Univ Tokyo,Univ Tokyo, Inst Quantitat Biosci, Lab Genome Struct & Funct, Tokyo 1138657, Japan
[4]
Nagano Childrens Hosp,Nagano Childrens Hosp, Div Med Genet, Nagano 3998205, Japan
[5]
Yokohama City Univ,Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004
[6]
Birmingham Womens & Childrens Hosp NHS Fdn Trust,Birmingham Womens & Childrens Hosp NHS Fdn Trust
[7]
Seoul Natl Univ,Seoul Natl Univ, Dept Biomed Sci, Coll Med, Seoul 03080, South Korea
[8]
Tech Univ Dresden,Tech Univ Dresden, Inst Clin Genet, D-01307 Dresden, Germany
[9]
Univ Penn,Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA 19104 USA
[10]
Childrens Hosp Philadelphia,Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA
[11]
Osaka Womens & Childrens Hosp,Osaka Womens & Childrens Hosp, Dept Med Genet, Osaka 5941101, Japan
[12]
Cent Hosp,Cent Hosp, Dept Clin Genet, Aichi Dev Disabil Ctr, Nagoya, Aichi, Japan
[13]
Seoul Natl Univ,Seoul Natl Univ, Dept Pediat, Coll Med, Seoul 03080, South Korea
[14]
Univ Hosp Trencin,Univ Hosp Trencin, Dept Med Genet, Trencin 91171, Slovakia
[15]
Univ Bologna,Univ Bologna, Med Genet Unit, Policlin SantOrsola Malpighi, I-40138 Bologna, Italy
[16]
Childrens Hosp Philadelphia,Childrens Hosp Philadelphia, Zebrafish Core Facil, Philadelphia, PA
[17]
发布时间
2022-10-29
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