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CNKI期刊论文0611(1)
知网期刊论文(862)
在“
SpringerLink电子期刊
”中,
命中:
420
条,耗时:0.0289813 秒
在所有数据库中总计命中:
2,264
条
1.
Characterization of
BRCA1
and
BRCA2
variants
found in a Norwegian breast or ovarian cancer cohort
作者:
Elisabeth Jarhelle
;
Hilde Monica Frostad Riise Stensland
;
Lovise Mæhle…
关键词:
BRCA1
;
BRCA2
;
Cancer
;
cDNA
;
analysis
;
Functional
;
assay
刊名:Familial Cancer
出版年:2017
2.
Exome-chip association analysis reveals an Asian-specific
missense
variant in
PAX4
associated with type 2 diabetes in Chinese individuals
作者:
Chloe Y. Y. Cheung
;
Clara S. Tang
;
Aimin Xu
;
Chi-Ho Lee
;
Ka-Wing Au
;
Lin Xu…
关键词:
Asian
;
specific
;
Exome
;
chip association analysis
;
PAX4
;
Type 2 diabetes
刊名:Diabetologia
出版年:2017
3.
Identification of new
TRIP12
variants
and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism
作者:
Nuria C. Bramswig
;
H.-J. Lüdecke
;
M. Pettersson
;
B. Albrecht…
刊名:Human Genetics
出版年:2017
4.
Pure Cerebellar Ataxia with Homozygous Mutations in the
PNPLA6
Gene
作者:
Sarah Wiethoff
;
Conceição Bettencourt
;
Reema Paudel
;
Prochi Madon…
关键词:
Cerebellar ataxia
;
Gene
;
Mutations
;
PNPLA6
刊名:The Cerebellum
出版年:2017
5.
Compound heterozygous
GATA5
mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies
作者:
Maja Hempel
;
Teresa Casar Tena
;
Thilo Diehl
;
Martina S. Burczyk…
刊名:Human Genetics
出版年:2017
6.
Splicing analysis of 14 BRCA1
missense
variants
classifies nine
variants
as pathogenic
作者:
Lise B. Ahlborn (1)
Mette Dandanell (1)
Ane Y. Steffensen (1)
Lars J酶nson (1)
Finn C. Nielsen (1)
Thomas v. O. Hansen (1)
1. Center for Genomic Medicine
;
Rigshospitalet
;
University of Copenhagen
;
Blegdamsvej 9
;
2100
;
Copenhagen
;
Denmark
关键词:
BRCA1
;
Breast and ovarian cancer
;
Mini
;
gene splicing assay
;
Missense
variants
;
Splicing
刊名:Breast Cancer Research and Treatment
出版年:2015
7.
Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of
missense
variants
in the GAMT gene
作者:
Caro-Lyne Desroches
;
Jaina Patel
;
Peixiang Wang…
关键词:
GAMT deficiency
;
Site
;
directed mutagenesis
;
Missense
variants
;
Exome Variant Server
;
Carrier frequency
刊名:Molecular Genetics and Genomics
出版年:2015
8.
De novo
missense
variants
in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism
作者:
Linshan Shang
;
Lindsay B. Henderson
;
Megan T. Cho
;
Donald S. Petrey…
关键词:
PPP2R5D
;
Intellectual disabilities
;
Whole
;
exome sequencing
;
De novo mutations
;
Protein phosphatase
;
Autism spectrum disorder
刊名:neurogenetics
出版年:2016
9.
De novo
missense
variants
in
PPP1CB
are associated with intellectual disability and congenital heart disease
作者:
Lijiang Ma
;
Yavuz Bayram
;
Heather M. McLaughlin
;
Megan T. Cho…
刊名:Human Genetics
出版年:2016
10.
Whole exome sequencing identifies a heterozygous
missense
variant in the PRDM5 gene in a family with Axenfeld–Rieger syndrome
作者:
Shazia Micheal
;
Sorath Noorani Siddiqui
;
Saemah Nuzhat Zafar…
关键词:
Axenfeld–Rieger syndrome
;
Whole exome sequencing
;
PRDM5
刊名:neurogenetics
出版年:2016
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