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在“
SpringerLink电子期刊
”中，
命中：
7,109
条，耗时：0.0439829 秒
在所有数据库中总计命中：
22,550
条
1.
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
2.
Novel
Mutation
s in
SERPINF1
Result in Rare Osteogenesis Imperfecta Type VI
作者：
Jian-yi Wang
;
Yi Liu
;
Li-jie Song
;
Fang Lv
;
Xiao-jie Xu…
关键词：
Osteogenesis imperfecta
;
Type VI OI
;
SERPINF1
mutation
;
PEDF
刊名：Calcified Tissue International
出版年：2017
3.
In silico analysis of
novel
mutation
s in maple syrup urine disease patients from Iran
作者：
Maryam Abiri
;
Razieh Karamzadeh
;
Marziyeh Mojbafan…
关键词：
MSUD
;
BCKDHB gene
;
Iran
;
Mutation
analysis
刊名：Metabolic Brain Disease
出版年：2017
4.
Severe neurological manifestations in an Egyptian patient with a
novel
frameshift
mutation
in the
Glutaryl-CoA dehydrogenase
gene
作者：
Ahmed Moseilhy
;
Magdy M. Hassan
;
Heba S. A. El Abd…
关键词：
Glutaric acidemia type I
;
Glutaryl
;
CoA dehydrogenase
;
MRI
;
MS/MS
;
GC/MS
刊名：Metabolic Brain Disease
出版年：2017
5.
Clinical and genetic analysis of a family with Kartagener syndrome caused by
novel
DNAH5
mutation
s
作者：
Xuan Xu
;
Ping Gong
;
Jie Wen
关键词：
Kartagener syndrome
;
DNAH5
;
Gene sequencing
;
Visceral inversion
;
Mutation
;
Precision medicine
刊名：Journal of Assisted Reproduction and Genetics
出版年：2017
6.
Two patients with Canavan disease and structural modeling of a
novel
mutation
作者：
Osama K Zaki
;
Navaneethakrishnan Krishnamoorthy
;
Heba S El Abd…
关键词：
Canavan disease
;
Aspartoacylase
N ;
acetyl
;
aspartate
;
MRI
;
MRS
;
Molecular modeling
;
In silico mutagenesis
刊名：Metabolic Brain Disease
出版年：2017
7.
A
novel
germline
POLE
mutation
causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency
作者：
Katharina Wimmer
;
Andreas Beilken
;
Rainer Nustede
;
Tim Ripperger…
关键词：
Polymerase proofreading
;
associated polyposis
;
Constitutional mismatch repair deficiency
;
Café
;
au
;
lait macule
;
Pilomatricoma
;
Colon cancer
刊名：Familial Cancer
出版年：2017
8.
Novel
mutation
s in
IBA57
are associated with leukodystrophy and variable clinical phenotypes
作者：
Alessandra Torraco
;
Anna Ardissone
;
Federica Invernizzi…
关键词：
MMDS
;
IBA57
;
Mitochondrial disorders
;
Leukodystrophy
刊名：Journal of Neurology
出版年：2017
9.
A
novel
deletion
mutation
in
IL2RG
gene results in X-linked severe combined immunodeficiency with an atypical phenotype
作者：
Wenjun Mou
;
Jianxin He
;
Xi Chen
;
Hui Zhang
;
Xiaoya Ren
;
Xunyao Wu
;
Xin Ni…
关键词：
Primary immunodeficiency diseases
;
Atypical SCID
;
IL2RG gene
X ;
linked SCID
;
Frameshift
;
Signal peptide
刊名：Immunogenetics
出版年：2017
10.
Hereditary leiomyomatosis and renal cell cancer syndrome: identification and clinical characterization of a
novel
mutation
in the
FH gene
in a Colombian family
作者：
Carolina Arenas Valencia
;
Martha Lucia Rodríguez López…
关键词：
FH
;
HLRCC
;
Family renal cell cancer
;
Type 2
;
papillary renal cell carcinoma
;
Colombia
刊名：Familial Cancer
出版年：2017
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关键词(102)
文摘(5860)
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