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Springer电子图书(4)
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CNKI学位论文(4186)
CNKI期刊论文0611(4)
知网期刊论文(809)
在“
SpringerLink电子期刊
”中,
命中:
374
条,耗时:0.0229897 秒
在所有数据库中总计命中:
5,006
条
1.
MLPA analysis in a cohort of patients with autism
作者:
Sara Peixoto
;
Joana B. Melo
;
José Ferrão
;
Luís M. Pires…
关键词:
Autism
;
Autism spectrum disorders
;
Copy number variants
;
Genotype
;
Multiplex Ligation
;
dependent
Probe
Amplification
(MLPA)
;
Methylation Specific Multiplex Ligation
;
dependent
Probe
Amplification
(MS
;
MLPA)
;
Phenotype
刊名:Molecular Cytogenetics
出版年:2017
2.
Visible and red emissive molecular beacons for optical temperature measurements and quality control in diagnostic assays utilizing temperature-
dependent
amplification
reactions
作者:
Zerrin Fidan
;
Andy Wende
;
Ute Resch-Genger
关键词:
Fluorescence molecular beacon
;
Temperature sensing
;
Microfluidics
;
Quality assurance
;
Diagnostic assay
;
DNA
amplification
刊名:Analytical and Bioanalytical Chemistry
出版年:2017
3.
The σ
54
-
dependent
two-component system regulating sulfur oxidization (Sox) system in
Acidithiobacillus caldus
and some chemolithotrophic bacteria
作者:
Li-Feng Li
;
Luo-Jie Fu
;
Jian-Qun Lin
;
Xin Pang…
关键词:
Acidithiobacillus caldus
;
sox gene regulation
;
σ54
;
bEBP
;
Two
;
component regulatory systems
;
Sulfur metabolism
刊名:Applied Microbiology and Biotechnology
出版年:2017
4.
First description of mutational analysis of
MLH1, MSH2
and
MSH6
in Algerian families with suspected Lynch syndrome
作者:
H. Ziada-Bouchaar
;
K. Sifi
;
T. Filali
;
T. Hammada
;
D. Satta
;
N. Abadi
关键词:
Algerian families
;
Hereditary non
;
polyposis colorectal cancer
;
Lynch syndrome
;
MLH1
;
MMR genes
刊名:Familial Cancer
出版年:2017
5.
Alterations of
p14
ARF
,
p15
INK4b
, and
p16
INK4a
Genes in Primary Laryngeal
作者:
Fernando López
;
Teresa Sampedro
;
José L. Llorente…
关键词:
DNA methylation
;
Larynx squamous cell carcinoma
;
Head and neck squamous cell carcinoma
;
MS
;
MLPA
;
CDKN2B
;
CDKN2A
刊名:Pathology & Oncology Research
出版年:2017
6.
A de novo 3p13 deletion induced by a complex chromosomal rearrangement combined with a pericentric inversion of chromosome, inv(3)(p13q12), and a translocation between chromosome 3 and 8, t(3;8)(q13.1;q24.2), in a child with developmental delay
作者:
Kye Hee Cho
;
Sung Han Shim
;
MinYoung Kim
关键词:
De novo complex chromosomal rearrangement
;
Microdeletion
;
Global developmental delay
;
Dysmorphism
刊名:Genes & Genomics
出版年:2017
7.
Detection of α-Thalassemia by Using Multiplex Ligation-
Dependent
Probe
Amplification
as an Additional Method for Rare Mutations in Southern Turkey
作者:
Ozge Ozalp Yuregir
;
Akif Ayaz…
关键词:α ;
Thalassemia
;
Multiplex ligation
dependent
probe
amplification
;
Reverse dot blot hybridization
;
Southern Turkey
刊名:Indian Journal of Hematology and Blood Transfusion
出版年:2016
8.
Comparison of two subtelomeric assays for the screening of chromosomal rearrangements: analysis of 383 patients, literature review and further recommendations
作者:
Lorena Santa María
;
Víctor Faundes
;
Bianca Curotto…
关键词:
Intellectual disability
;
Global development delay
;
Subtelomeric rearrangements
;
Fluorescence in situ hybridisation
;
Multiplex ligation
;
dependent
probe
amplification
刊名:Journal of Applied Genetics
出版年:2016
9.
Sporadic paraganglioma caused by de novo SDHB mutations in a 6-year-old girl
作者:
Hideaki Imamura
;
Koji Muroya
;
Etsuko Tanaka…
关键词:
Paraganglioma
;
Childhood
;
Succinate dehydrogenase complex subunit B
;
Screening
;
Multiplex ligation
;
dependent
probe
amplification
;
Loss of heterozygosity
刊名:European Journal of Pediatrics
出版年:2016
10.
Genetic Screening of Pediatric Cavernous Malformations
作者:
Elisa Merello
;
Marco Pavanello
;
Alessandro Consales…
关键词:
Cerebral cavernous malformation (CCMs)
;
CCM genes
;
Direct sequencing
;
Multiplex ligation
;
dependent
probe
amplification
(MLPA)
刊名:Journal of Molecular Neuroscience
出版年:2016
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