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知网期刊论文(741)
在“
SpringerLink电子期刊
”中,
命中:
387
条,耗时:小于0.01 秒
在所有数据库中总计命中:
1,344
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.
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
3.
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
4.
MGMT methylation assessment in glioblastoma: MS-
MLPA
versus human methylation 450K beadchip array and immunohistochemistry
作者:
S. Trabelsi
;
N. Mama
;
M. Ladib
;
N. Karmeni…
关键词:
Methylation
;
MGMT
;
MS
;
MLPA
;
HM450 K beadchip array
刊名:Clinical and Translational Oncology
出版年:2016
5.
Development of a novel PTT assay for mutation detection in PALB2 large exons and PALB2 screening in medullary breast cancer
作者:
Nikoleta Poumpouridou
;
Nikolaos Goutas
;
Christina Tsionou…
关键词:
PALB2
;
Medullary breast cancer
;
Mutation analysis
;
PTT
;
HRMA
;
MLPA
刊名:Familial Cancer
出版年:2016
6.
Molecular analysis of miscarriage products using multiplex ligation-dependent probe amplification (
MLPA
): alternative to conventional karyotype analysis
作者:
Ji Won Kim
;
Sang Woo Lyu
;
Sae Ra Sung
;
Ji Eun Park…
关键词:
MLPA
;
G
;
banding chromosome analysis
;
Spontaneous abortion
刊名:Archives of Gynecology and Obstetrics
出版年:2015
7.
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
8.
Evaluation of multiplex ligation dependent probe amplification (
MLPA
) for identification of acute lymphoblastic leukemia with an intrachromosomal amplification of chromosome 21 (iAMP21) in a Brazilian population
作者:
Gerhard Fuka
;
Tállita M. Farias-Vieira
;
Leticia Hummel…
关键词:B ;
cell precursor acute lymphoblastic leukemia (BCP
;
ALL)
;
Intrachromosomal amplification of chromosome 21 (iAMP21)
;
Multiplex ligation dependent probe amplification (
MLPA
)
;
Fluorescence in situ hybridization (FISH)
刊名:Molecular Cytogenetics
出版年:2015
9.
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
10.
Mutation spectrum of the
PAH
gene in phenylketonuria patients in the Karachay-Cherkess Republic (Russia)
作者:
P. Gundorova
;
A. A. Stepanova
;
A. Kh. Makaov…
关键词:
hyperphenylalaninemia
;
diet therapy
;
residual activity
;
tetrahydrobiopterin
;
BH4
;
MLPA
刊名:Russian Journal of Genetics
出版年:2016
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