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内部出版物
Wiley电子期刊(4)
Springer电子图书(1)
SpringerLink电子期刊(5)
Elsevier电子期刊(10)
在“
Elsevier电子期刊
”中,
命中:
10
条,耗时:0.0270227 秒
在所有数据库中总计命中:
20
条
1.
Iterative phenotyping of 15q11.2, 15q13.3 and 16p13.11 mi
c
rodeletion
c
arriers in pediatri
c
epilepsies
作者:
Johanna A. J盲hn
;
Sarah von Spi
c
zak
;
Hiltrud Muhle
;
Tanja Obermeier
;
Andre Franke
;
Heather
C
.
Mefford
;
Ulri
c
h Stephani
;
Ingo Helbig
关键词:
C
opy number variation
;
15q11.2
;
15q13.3
;
16p13.11 mi
c
rodeletions
刊名:Epilepsy Resear
c
h
出版年:January, 2014
2.
Mutations Affe
c
ting the SAND Domain of DEAF1 Cause Intelle
c
tual Disability with Severe Spee
c
h Impairment and Behavioral Problems
作者:
Anneke T. Vulto-van Silfhout
1
;
14
;
Shivakumar Rajamani
c
kam
2
;
14
;
Philip J. Jensik
2
;
14
;
Sarah Vergult
3
;
Nina de Ro
c
ker
3
;
Kathryn J. Newhall
4
;
Ramya Raghavan
2
;
Sara N. Reardon
2
;
Kelsey Jarrett
2
;
Tara M
c
Intyre
2
;
Joseph Bulinski
2
;
Sta
c
y L. Ownby
2
;
Jodi I. Huggenvik
2
;
G. Stanley M
c
Knight
4
;
Gregory M. Rose
2
;
5
;
Xiang
C
ai
2
;
Andy Willaert
3
;
C
hristiane Zweier
6
;
Sabine Endele
6
;
Joep de Ligt
1
;
Bregje W.M. van Bon
1
;
Dorien Lugtenberg
1
;
Petra F. de Vries
1
;
Joris A. Veltman
1
;
Hans van Bokhoven
1
;
7
;
Han G. Brunner
1
;
Anita Rau
c
h
8
;
9
;
10
;
Arjan P.M. de Brouwer
1
;
7
;
Gemma L.
C
arvill
11
;
Alexander Hois
c
hen
1
;
Heather
C
.
Mefford
11
;
Evan E. Ei
c
hler
12
;
13
;
Lisenka E.L.M. Vissers
1
;
Bjö
;
rn Menten
3
;
Mi
c
hael W. Collard
2
;
15
;
Bert B.A. de Vries
1
;
15
;
bert.devries@radboudum
c
.nl"
c
lass="auth_mail
刊名:The Ameri
c
an Journal of Human Geneti
c
s
出版年:1 May 2014
3.
Mutations in E
C
EL1 Cause Distal Arthrogryposis Type 5D
作者:
Margaret J. M
c
Millin
1
;
2
;
Jennifer E. Below
3
;
Kathryn M. Shively
1
;
Anita E. Be
c
k
1
;
2
;
Heidi I. Gildersleeve
1
;
Jason Pinner
4
;
Gloria R. Gogola
5
;
Ja
c
queline T. He
c
ht
6
;
Dorothy K. Grange
7
;
David J. Harris
8
;
Dawn L. Earl
2
;
Sujatha Jagadeesh
9
;
Sarju G. Mehta
10
;
Stephen P. Robertson
11
;
James M. Swanson
12
;
Elaine M. Faustman
13
;
Heather
C
.
Mefford
1
;
2
;
Jay Shendure
3
;
Deborah A. Ni
c
kerson
3
;
Mi
c
hael J. Bamshad
1
;
2
;
3
;
mbamshad@uw.edu
;
the University of Washington
C
enter for Mendelian Genomi
c
s
刊名:The Ameri
c
an Journal of Human Geneti
c
s
出版年:2013
4.
Mi
c
rodeletion syndromes
作者:
Gemma L
C
arvill
;
Heather
C
Mefford
刊名:
C
urrent Opinion in Geneti
c
s & Development
出版年:2013
5.
C
larifying the role of the 22q11.2 mi
c
rodeletion in juvenile myo
c
loni
c
epilepsy
作者:
Ingo Helbig
;
C
orinna Hartmann
;
Heather
C
.
Mefford
刊名:Epilepsy & Behavior
出版年:De
c
ember, 2013
6.
Population Analysis of Large
C
opy Number Variants and Hotspots of Human Geneti
c
Disease
作者:
Andy Itsara
;
Gregory M.
C
ooper
;
C
arl Baker
;
Santhosh Girirajan
;
Jun Li
;
Devin Absher
;
Ronald M. Krauss
;
Ri
c
hard M. Myers
;
Paul M. Ridker
;
Daniel I.
C
hasman
;
Heather
Mefford
;
Phyllis Ying
;
Deborah A. Ni
c
kerson
;
Evan E. Ei
c
hler
刊名:The Ameri
c
an Journal of Human Geneti
c
s
出版年:2009
7.
Dupli
c
ation hotspots, rare genomi
c
disorders, and
c
ommon disease
作者:
Heather
C
Mefford
;
Evan E Ei
c
hler
刊名:
C
urrent Opinion in Geneti
c
s & Development
出版年:2009
8.
Population Analysis of Large
C
opy Number Variants and Hotspots of Human Geneti
c
Disease
作者:
Andy Itsara
;
Gregory M.
C
ooper
;
C
arl Baker
;
Santhosh Girirajan
;
Jun Li
;
Devin Absher
;
Ronald M. Krauss
;
Ri
c
hard M. Myers
;
Paul M. Ridker
;
Daniel I.
C
hasman
;
Heather
C
.
Mefford
;
Phyllis Ying
;
Deborah A. Ni
c
kerson
;
Evan E. Ei
c
hler
刊名:The Ameri
c
an Journal of Human Geneti
c
s
出版年:2009
9.
Re
c
urrent Re
c
ipro
c
al Genomi
c
Rearrangements of 17q12 Are Asso
c
iated with Renal Disease, Diabetes, and Epilepsy
作者:
Heather
C
.
Mefford
;
Sé
;
verine
C
lauin
;
Andrew J. Sharp
;
Rikke S. Moller
;
Reinhard Ullmann
;
Raj Kapur
;
Dan Pinkel
;
Gregory M.
C
ooper
;
Mario Ventura
;
H. Hilger Ropers
;
Niels Tommerup
;
Evan E. Ei
c
hler
;
C
hristine Bellanne-Chantelot
刊名:The Ameri
c
an Journal of Human Geneti
c
s
出版年:2007
10.
Eviden
c
e for a BRCA1 Founder Mutation in Families of West Afri
c
an An
c
estry
作者:
Heather
C
.
Mefford
;
Lisa Baumba
c
h
;
Ramesh
C
.K. Panguluri
;
C
arolyn Whitfield-Broome
;
C
silla Szabo
;
Selena Smith
;
Mary-
C
laire King
;
Georgia Dunston
;
Dominique Stoppa-Lyonnet
;
Fern
;
o Arena
刊名:The Ameri
c
an Journal of Human Geneti
c
s
出版年:1999
1
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