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Wiley电子期刊(1)
SpringerLink电子期刊(26)
NATURE电子期刊(1)
Elsevier电子期刊(48)
在“
Elsevier电子期刊
”中,
命中:
48
条,耗时:0.1359342 秒
在所有数据库中总计命中:
76
条
1.
Fluoride exposure changed the structure and the expressions of
Y
chromosome
related
genes
in testes of mice
作者:
Jinling Cao
1
;
Y
an Chen
1
;
Jianjie Chen
;
Hanghang
Y
an
;
Mei
y
an Li
;
Jundong Wang
;
wangjd53@outlook.com" class="auth_mail" title="E-mail the corresponding author
关键词:
Fluoride
;
Testes
;
Y
chromosome
microdeletion
genes
;
Spermato
genes
is
;
HSF2
刊名:Chemosphere
出版年:2016
2.
Do the exome: A case of Williams-Beuren s
y
ndrome with severe epileps
y
due to a truncating de novo variant in GABRA1
作者:
Bernt Popp
a
;
bernt.popp@uk-erlangen.de" class="auth_mail" title="E-mail the corresponding author
;
Regina Trollmann
b
;
Christian Bü
;
ttner
a
;
Almuth Caliebe
c
;
Christian T. Thiel
a
;
Ulrike Hü
;
ffmeier
a
;
André
;
Reis
a
;
Christiane Zweier
a
关键词:
Williams-Beuren s
y
ndrome
;
Deletion
;
GABRA1
;
De novo mutation
;
Epileps
y
;
Exome
刊名:European Journal of Medical Genetics
出版年:2016
3.
Routine diagnostic testing of
Y
chromosome
deletions in male infertile and subfertile
作者:
Saeid Ghorbian
ghorbian20@
y
ahoo.com
关键词:
PAR
;
pseduoautosomal regions
;
NR
Y
;
non-recombining region
Y
chromosome
;
AZF
;
azoospermia factor
;
USP9
Y
;
ubiquitin-specific protease 9
Y
chromosome
;
DB
Y
;
Dead box on
Y
;
UT
Y
;
ubiquitous TPR motif on
Y
;
RBM
Y
;
RNA binding motif
Y
;
DAZ
;
deleted in azoospermia
刊名:Gene
出版年:2012
4.
Screening for partial AZFa
microdeletion
s in the
Y
chromosome
of infertile men: is it of clinical relevance?
作者:
Sandra E. Kleiman
;
Ph.D.
;
ser@tasmc.health.gov.il
;
Ronit Almog
;
M.D.
;
Leah
Y
ogev
;
Ph.D.
;
Ron Hauser
;
M.D.
;
Ofer Lehavi
;
M.D.
;
Gedalia Paz
;
Ph.D.
;
Haim
Y
avetz
;
M.D.
;
Amnon Botchan
;
M.D.
关键词:
Y
-
Chromosome
microdeletion
;
AZF
microdeletion
;
male infertilit
y
;
sperm cells
;
spermato
genes
is
刊名:Fertilit
y
and Sterilit
y
出版年:2012
5.
A patient with five chromosomal rearrangements and a 2q31.1
microdeletion
作者:
Ting Wang
a
;
1
;
Jun Mao
a
;
1
;
Min-Juan Liu
a
;
Kwong Wai Cho
y
b
;
c
;
Hai-Bo Li
a
;
David S. Cram
d
;
Hong Li
a
;
Y
ing Chen
a
;
c
y
andzh@sohu.com" class="auth_mail
关键词:
2q31.1
microdeletion
s
y
ndrome
;
Translocation
;
Complex
chromosome
rearrangement
;
HOXD13
;
CHN1
刊名:Clinica Chimica Acta
出版年:20 March, 2014
6.
Variable phenot
y
pe in 17q12
microdeletion
s: Clinical and molecular characterization of a new case
作者:
Pietro Palumbo
;
Vincenzo Antona
;
Orazio Palumbo
;
Maria Piccione
;
Rosaria Nardello
;
Antonina Fontana
;
Massimo Carella
;
Giovanni Corsello
关键词:
ACACA
;
Acet
y
l-CoA Carbox
y
lase Alpha
;
ADHD
;
Attention Deficit H
y
peractivit
y
Disorder
;
ASD
;
Autism Spectrum Disorders
;
CNTNAP2
;
Contactin associated protein-like 2
;
CNV
;
Cop
y
Number Variation
;
DNA
;
Deox
y
ribonucleic Acid
;
FOXP2
;
Forkhead box P2
;
HNF1B
;
Hepatoc
y
te Nuclear Factor 1 Beta
;
ID
;
Intellectual disabilit
y
;
LCRs
;
Low Cop
y
Repeats
;
LHX1
;
LIM homeobox 1 LIM homeobox 1
;
MET
;
Met proto-oncogene
;
MOD
Y
5
;
Maturit
y
Onset Diabetes of the Young t
y
pe 5
;
MRKH
;
Ma
y
er-Rokitansk
y
-Kü
;
ster-Hauser-S
y
ndrom
刊名:Gene
出版年:1 April, 2014
7.
Chromosome
microarra
y
anal
y
sis: a case report of infertile brothers with CATSPER gene deletion
作者:
Deepika Jaiswal
a
;
Vertika Singh
a
;
U.S. Dwivedi
b
;
Sameer Trivedi
b
;
Kiran Singh
a
;
singhk4@rediffmail.com" class="auth_mail
;
skiran@bhu.ac.in" class="auth_mail
关键词:
CMA
;
chromosome
microarra
y
anal
y
sis
;
WHO
;
World Health organization
;
CGH
;
Comparative Genomic H
y
bridization
;
CNVs
;
Cop
y
number Variations
;
LH
;
luteinizing hormone
;
FSH
;
follicle stimulating hormone
;
GTG
;
Giemsa
;
Tr
y
psin
;
Giemsa
;
AZF
;
Azoospermia Factor
;
SNP
;
Single Nucleotide Pol
y
morphism
;
RPMI
;
Roswell Park Memorial Institute medium
;
PHA
;
ph
y
tohemagglutinin
;
CDA1
;
congenital d
y
ser
y
thropoietic anemia t
y
pe 1
;
CKMT1b
;
human mitochondrial creatine kinase
;
STRC
;
stereocilin
;
ABTB5
;
Ank
y
rin Repeat and
刊名:Gene
出版年:1 June, 2014
8.
6p25 Interstitial deletion in two diz
y
gotic twins with g
y
ral pattern anomal
y
and speech and language disorder
作者:
Margherita Bozza
a
;
Laura Bernardini
b
;
Antonio Novelli
b
;
Paola Brovedani
a
;
Elena Moretti
a
;
Raffaello Canapicchi
a
;
Viola Doccini
a
;
Tiziana Filippi
a
;
Agatino Battaglia
a
;
agatino.battaglia@inpe.unipi.it
关键词:
Microdeletion
6p25
;
Arra
y
-CGH
;
G
y
ral pattern anomal
y
;
Intellectual disabilit
y
;
Speech and language disorder
;
L
Y
RM4
刊名:European Journal of Paediatric Neurolog
y
出版年:2013
9.
Mutations in USP9X Are Associated with X-Linked Intellectual Disabilit
y
and Disrupt Neuronal Cell Migration and Growth
作者:
Claire C. Homan
1
;
Raman Kumar
2
;
3
;
4
;
Lam Son Ngu
y
en
4
;
12
;
Eric Haan
4
;
5
;
F. Luc
y
Ra
y
mond
6
;
Fatima Abidi
7
;
Martine Ra
y
naud
8
;
9
;
Charles E. Schwartz
7
;
Stephen A. Wood
10
;
Jozef Gecz
1
;
2
;
4
;
11
;
jozef.gecz@adelaide.edu.au" class="auth_mail
;
Lachlan A. Joll
y
4
;
11
;
lachlan.joll
y
@adelaide.edu.au" class="auth_mail
刊名:The American Journal of Human Genetics
出版年:6 March, 2014
10.
Structural genome variations in individuals with childhood cancer and tumour predisposition s
y
ndromes
作者:
Saskia Hopman
a
;
saskia.hopman@amc.uva.nl
;
Johannes Merks
a
;
Hubertus Eussen
b
;
Hannie Douben
b
;
Simone Snijder
c
;
Raoul Hennekam
c
;
d
;
Annelies de Klein
b
;
Huib Caron
a
关键词:
Childhood cancer
;
Paediatric oncolog
y
;
Morphological abnormalities
;
Cop
y
number variation
;
Structural genome variations
;
Tumour predisposition
刊名:European Journal of Cancer
出版年:2013
1
2
3
4
5
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