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馆藏书目(3)
CNKI会议论文(36)
CNKI期刊论文0611(44)
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CNKI学位论文(9342)
知网期刊论文(76444)
在“
Elsevier电子期刊
”中,
命中:
2,802
条,耗时:0.0409537 秒
在所有数据库中总计命中:
85,874
条
1.
Embracing an “African Ethos” to facilitate African immigrants participation in
medical
genetics
and genomics research
作者:
Aaron G. Buseh
;
PhD
;
MPH
;
MSN
a
;
aaronbg@uwm.edu
;
Patricia E. Stevens
;
RN
;
PhD
;
FAAN
a
;
Sandra Millon-Underwood
;
PhD
;
FAAN
a
;
Sheryl T. Kelber
;
MS
b
;
Leolia Townsend
;
MS
;
MA
a
关键词:
Barriers to participation
;
Community-based participatory research
;
Facilitators to participation
;
Genetics
and genomics
;
Health disparities
;
African immigrants and
genetics
刊名:Nursing Outlook
出版年:2017
2.
Reusability of coded data in the primary care electronic
medical
record: A dynamic cohort study concerning cancer diagnoses
作者:
Annet Sollie
a
;
b
;
annetsollie@gmail.com
(General Practitioner-/PhD Fellow)
;
Rolf H. Sijmons
c
;
r.h.sijmons@medgen.umcg.nl
(Clinical Geneticist Professor of
Medical
Translational
Genetics
)
;
Charles Helsper
;
MD PhD
b
;
c.w.helsper-2@umcutrecht.nl
(Epidemiologist)
;
Mattijs E. Numans
b
;
d
;
a
;
m.e.numans@lumc.nl
(General Practitioner Professor of Primary Care)
关键词:
Electronic
medical
record
;
Electronic health record
;
Diagnosis registry
;
Data reuse
;
Primary care/general practice
;
Cancer
刊名:International Journal of
Medical
Informatics
出版年:2017
3.
Genetic testing among Spanish pediatric neurologists: Knowledge, attitudes and practices
作者:
J. Domí
;
nguez-Carral
a
;
J. Ló
;
pez-Pisó
;
n
b
;
A. Macaya
c
;
M. Bueno Campañ
;
a
d
;
M.A. Garcí
;
a-Pé
;
rez
d
;
D. Natera-de Benito
e
;
daninatera@hotmail.com
关键词:
Genetic testing
;
Pediatric neurology
;
Medical
education
;
Genetic counseling
;
Intellectual disability
;
Etiology
刊名:European Journal of
Medical
Genetics
出版年:2017
4.
Boucher Neuhäuser Syndrome - A rare cause of inherited hypogonadotropic hypogonadism. A case of two adult siblings with two novel mutations in PNPLA6
作者:
Jakob H. Langdahl
a
;
d
;
jakob.hoegild.langdahl@rsyd.dk
;
Anja L. Frederiksen
b
;
d
;
Nina Nguyen
c
;
Klaus Brusgaard
b
;
d
;
Claus B. Juhl
a
关键词:
Hypogonadism
;
Spinocerebellar ataxias
;
Retinal dystrophies
;
Phospholipases
;
Genetics
;
PNPLA6 mutation
刊名:European Journal of
Medical
Genetics
出版年:2017
5.
Child Neurology Recruitment and Training: Views of Residents and Child Neurologists From the 2015 AAP/CNS Workforce Survey
作者:
Donald L. Gilbert
;
MD
;
MS
a
;
Donald.gilbert@cchmc.org
;
Paul S. Horn
;
PhD
a
;
Peter B. Kang
;
MD
b
;
Mark Mintz
;
MD
c
;
Sucheta M. Joshi
;
MBBS
d
;
Holly Ruch-Ross
;
ScD
e
;
James F. Bale Jr.
;
MD
f
关键词:
child neurology residency
;
medical
school
;
graduate
medical
education
;
workforce survey
刊名:Pediatric Neurology
出版年:2017
6.
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform
作者:
Francesco Calì
;
a
;
cali@oasi.en.it
;
Valeria Chiavetta
a
;
Giuseppa Ruggeri
a
;
Maria Piccione
b
;
Angelo Selicorni
c
;
d
;
Daniela Palazzo
b
;
Maria Bonsignore
e
;
Anna Cereda
f
;
Maurizio Elia
g
;
Pinella Failla
g
;
Maria Grazia Figura
g
;
Agata Fiumara
h
;
Silvia Maitz
c
;
Giuseppa Maria Luana Mandarà
;
i
;
Teresa Mattina
h
;
Alda Ragalmuto
a
;
Corrado Romano
g
;
Martino Ruggieri
h
;
Roberto Salluzzo
a
;
Antonino Saporoso
e
;
Carmelo Schepis
g
;
Giovanni Sorge
h
;
Maria Spanò
;
e
;
Gaetano Tortorella
e
;
Valentino Romano
j
关键词:
Neurofibromatosis type 1
;
Legius's syndrome
;
Next generation sequencing
;
Mosaicism
刊名:European Journal of
Medical
Genetics
出版年:2017
7.
Human teratogens and genetic phenocopies. Understanding pathogenesis through human genes mutation
作者:
Matteo Cassina
;
matteo.cassina@unipd.it
;
Giulia A. Cagnoli
;
Daniela Zuccarello
;
Elena Di Gianantonio
;
Maurizio Clementi
关键词:
Teratogen
;
Phenocopy
;
Genetics
;
Syndrome
;
Malformation
;
Birth defect
刊名:European Journal of
Medical
Genetics
出版年:2017
8.
Whole-Genome Sequencing in Healthy People
作者:
Noralane M. Lindor
;
MD
a
;
nlindor@mayo.edu
;
Stephen N. Thibodeau
;
PhD
b
;
Wylie Burke
;
MD
;
PhD
c
关键词:
ACMGG
;
American College of
Medical
Genetics
and Genomics
;
EMR
;
electronic
medical
record
;
GWAS
;
genome-wide association study
;
HGP
;
Human Genome Project
;
SNP
;
single-nucleotide polymorphism
;
WES
;
whole-exome sequencing
;
WGS
;
whole-genome sequencing
;
VUS
;
variant of unknown significance
刊名:Mayo Clinic Proceedings
出版年:2017
9.
Risk factors for congenital anomalies in high risk pregnant women: A large study from South India
作者:
Tella Sunitha
a
;
Kattekola Rebekah Prasoona
a
;
Tiruvatturu Muni Kumari
b
;
Buragadda Srinadh
a
;
Madireddy Laxmi Naga Deepika
a
;
Ramaiah Aruna
b
;
Akka Jyothy
a
;
jyothycell@rediffmail.com
关键词:
HRP
;
High Risk Pregnancy
;
CAs
;
congenital anomalies
;
BOH
;
bad obstetric history
;
TORCH
;
Toxoplasmosis Rubella Cyto Megalo Virus Herpes Simplex Virus
刊名:Egyptian Journal of
Medical
Human
Genetics
出版年:2017
10.
Clinical profile of cyanotic congenital heart disease in neonatal intensive care unit at Sohag University Hospital, Upper Egypt
作者:
Ashraf Abou-Taleb
;
ashmaabu@yahoo.com
;
Marwa A. Abdelhamid
;
Mohamed A.M. Bahkeet
关键词:
Cyanotic congenital heart disease
;
Echocardiography
;
Transposition of great arteries
刊名:Egyptian Journal of
Medical
Human
Genetics
出版年:2017
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