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知网期刊论文(23052)
在“
SpringerLink电子期刊
”中,
命中:
14,424
条,耗时:小于0.01 秒
在所有数据库中总计命中:
51,692
条
1.
Genomic findings in patients with clinical suspicion of 22q11.2
deletion
syndrome
作者:
Magdalena Koczkowska
;
Jolanta Wierzba
;
Robert Śmigiel…
关键词:
22q11.2
deletion
syndrome
;
Array comparative genomic hybridization
;
17q21.31 micro
deletion
syndrome
;
NF1 microduplication syndrome
;
chromosome 6p25.3p25.2
deletion
;
NAALADL2
刊名:Journal of Applied Genetics
出版年:2017
2.
Otologic and audiologic findings in 22q11.2
deletion
syndrome
作者:
E. Verheij
;
A. L. Kist…
关键词:
DiGeorge syndrome
;
Velocardiofacial syndrome
;
22q11.2
deletion
syndrome
;
Hearing loss
;
Otitis media
;
Tympanic membrane perforation
;
Otorhinolaryngology
刊名:European Archives of Oto-Rhino-Laryngology
出版年:2017
3.
Coexistence of 9p
Deletion
Syndrome and Autism Spectrum Disorder
作者:
Serkan Güneş
;
Özalp Ekinci
;
Nuran Ekinci…
关键词:
9p
;
Deletion
;
Autism
刊名:Journal of Autism and Developmental Disorders
出版年:2017
4.
Identification of a Novel
Deletion
Mutation (c.1780delG) and a Novel Splice-Site Mutation (c.1412-1G>A) in the
CCM1/KRIT1
Gene Associated with Familial Cerebral Cavernous Malformation in the Chinese Population
作者:
Chenlong Yang
;
Jizong Zhao
;
Bingquan Wu
;
Haohao Zhong…
关键词:
Familial cerebral cavernous malformation
;
DNA sequencing
;
Novel mutation
;
Deletion
mutation
;
Splice
;
site mutation
;
CCM1
刊名:Journal of Molecular Neuroscience
出版年:2017
5.
Expanding the clinical spectrum of chromosome 15q26 terminal
deletion
s associated with IGF-1 resistance
作者:
Aisling M. O’Riordan
;
Niamh McGrath
;
Farhana Sharif…
关键词:
15q26
deletion
;
Aortic root
;
Developmental delay
;
Growth
;
IGF
;
1 receptor
刊名:European Journal of Pediatrics
出版年:2017
6.
The social brain network in 22q11.2
deletion
syndrome: a diffusion tensor imaging study
作者:
Amy K. Olszewski
;
Zora Kikinis
;
Christie S. Gonzalez…
关键词:
22q11.2
deletion
syndrome
;
Social brain network
;
Social cognition
;
Two
;
tensor tractography
;
White matter tracts
刊名:Behavioral and Brain Functions
出版年:2017
7.
Prognostic significance of IKZF1
deletion
in adult B cell acute lymphoblastic leukemia: a meta-analysis
作者:
Wanhua Zhang
;
Pu Kuang
;
He Li
;
Fengjuan Wang
;
Yu Wang
关键词:
Acute lymphoblastic leukemia
;
IKZF1
;
Prognosis
;
Meta
;
analysis
刊名:Annals of Hematology
出版年:2017
8.
A vast genomic
deletion
in the C56BL/6 genome affects different genes within the
Ifi200
cluster on chromosome 1 and mediates obesity and insulin resistance
作者:
Heike Vogel
;
Markus Jähnert
;
Mandy Stadion
;
Daniela Matzke…
关键词:
BAC library
;
Gene cluster
;
Deletion
;
Obesity
刊名:BMC Genomics
出版年:2017
9.
Large
Deletion
of MAGT1 Gene in a Patient with Classic Kaposi Sarcoma, CD4 Lymphopenia, and EBV Infection
作者:
Immacolata Brigida
;
Maria Chiriaco
;
Silvia Di Cesare…
关键词:
MAGT1
deletion
;
Sequencing
;
Kaposi Sarcoma
刊名:Journal of Clinical Immunology
出版年:2017
10.
pheS
*
, an effective host-genotype-independent counter-selectable marker for marker-free chromosome
deletion
in
Bacillus amyloliquefaciens
作者:
Chaoyang Zhou
;
Lingling Shi
;
Bin Ye
;
Haichao Feng…
关键词:
B. amyloliquefaciens
;
Counter
;
selectable marker
;
pheS*
;
Unmarked genetic manipulation
刊名:Applied Microbiology and Biotechnology
出版年:2017
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