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内部出版物
Wiley电子期刊(12)
Springer电子图书(2)
SpringerLink电子期刊(39)
Elsevier电子期刊(52)
在“
SpringerLink电子期刊
”中,
命中:
39
条,耗时:小于0.01 秒
在所有数据库中总计命中:
105
条
1.
Epigenetic control of the immune system: a lesson from
Kabuki
syndrome
作者:
Stefano Stagi
;
Anna Virginia Gulino
;
Elisabetta Lapi…
关键词:
Kabuki
syndrome
;
KMT2D (MLL2)
;
KDM6A (UTX)
;
Autoimmunity
;
Epigenetic regulation
;
Thrombocytopenia
;
Antibody deficiency
刊名:Immunologic Research
出版年:2016
2.
Spinal ependymoma in a patient with
Kabuki
syndrome
: a case report
作者:
Davide Roma
;
Paolo Palma
;
Rossella Capolino
;
Lorenzo Figà-Talamanca…
关键词:
Kabuki
syndrome
;
Spinal ependymoma
;
KMT2D mutation
;
Cancer predisposition
syndrome
s
刊名:BMC Medical Genetics
出版年:2015
3.
Kabuki
syndrome
: a Chinese case series and systematic review of the spectrum of mutations
作者:
Shuang Liu
;
Xiafei Hong
;
Cheng Shen
;
Quan Shi
;
Jian Wang…
关键词:
Kabuki
syndrome
;
KMT2D
;
Chinese
;
Series
;
Dandy
;
Walker
syndrome
;
Spinal bifida
刊名:BMC Medical Genetics
出版年:2015
4.
Rare ocular features in a case of
Kabuki
syndrome
(Niikawa-Kuroki
syndrome
)
作者:
Yi-Hsing Chen (1) (2)
Ming-Hui Sun (1) (2)
Shao-Hsuan Hsia (1) (3)
Chi-Chun Lai (1) (2)
Wei-Chi Wu (1) (2)
1. Department of Ophthalmology
;
Chang Gung Memorial Hospital
;
No. 5
;
Fu-Hsing Street
;
Kweishan
;
Taoyuan
;
333
;
Taiwan
2. College of Medicine
;
Chang Gung University
;
Taoyuan
;
Taiwan
3. Department of Pediatrics
;
Chang Gung Memorial Hospital
;
Taoyuan
;
Taiwan
关键词:
Kabuki
syndrome
;
Colobomatous microphthalmia
;
Optic disc dysplasia
;
MLL2 gene mutation
刊名:BMC Ophthalmology
出版年:2014
5.
Autoimmune haematological disorders in two Italian children with
Kabuki
Syndrome
作者:
Paola Giordano (1)
Giuseppe Lassandro (1)
Maria Sangerardi (1)
Maria Felicia Faienza (1)
Federica Valente (1)
Baldassarre Martire (1)
关键词:
Kabuki
syndrome
;
Immune haemolytic anaemia
;
Immune thrombocytopenia
;
Autoimmune haematological disorders
;
KMT2D
;
MLL2
;
KDM6A
刊名:Italian Journal of Pediatrics
出版年:2014
6.
Bronchial isomerism in a
Kabuki
syndrome
patient with a novel mutation in MLL2 gene
作者:
Gerarda Cappuccio (1)
Alessandro Rossi (1)
Paolo Fontana (1)
Emma Acampora (1)
Valeria Avolio (1)
Giuseppe Merla (2)
Leopoldo Zelante (2)
Aurelio Secinaro (3)
Generoso Andria (1)
Daniela Melis (1)
关键词:
Kabuki
syndrome
;
Isomerism
;
Respiratory distress
刊名:BMC Medical Genetics
出版年:2014
7.
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser
syndrome
s
作者:
Nuria C. Bramswig
;
Hermann-Josef Lüdecke
;
Yasemin Alanay
;
Beate Albrecht…
刊名:Human Genetics
出版年:2015
8.
Hypothalamic pituitary complications in
Kabuki
syndrome
作者:
Naoko Ito (1)
Kenji Ihara (1)
Yasushi Tsutsumi (1)
Noriko Miyake (2)
Naomichi Matsumoto (2)
Toshiro Hara (1)
关键词:
Kabuki
syndrome
;
Central diabetes insipidus
;
Hypothalamic pituitary axis
;
MLL2 gene
刊名:Pituitary
出版年:2013
9.
A novel mutation in SOX3 polyalanine tract: a case of
kabuki
syndrome
with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3
作者:
Masaki Takagi (1) (2)
Tomohiro Ishii (1)
Chiharu Torii (3)
Kenjiro Kosaki (3)
Tomonobu Hasegawa (1)
关键词:
CPHD
;
SOX3
;
PA tract
刊名:Pituitary
出版年:2014
10.
Surgical treatment of hip dislocation in
Kabuki
syndrome
: use of incomplete periacetabular osteotomy for posterior acetabular wall deficiency
作者:
Akifusa Wada (1)
Tomoyuki Nakamura (2)
Toru Yamaguchi (2)
Haruhisa Yanagida (2)
Kazuyuki Takamura (2)
Yutaka Oketani (1)
Hideaki Kubota (1)
Toshio Fujii (1)
关键词:
Kabuki
syndrome
;
Operative treatment
;
Hip dislocation
;
Open reduction
;
Periacetabular osteotomy
刊名:Journal of Children's Orthopaedics
出版年:2012
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