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内部出版物
Wiley电子期刊(5)
SpringerLink电子期刊(1)
NATURE电子期刊(1)
Elsevier电子期刊(10)
在“
Elsevier电子期刊
”中,
命中:
10
条,耗时:0.0119971 秒
在所有数据库中总计命中:
17
条
1.
Loss-
of
-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease
作者:
Dong-chuan Guo
1
;
13
;
Xue-Yan Duan
1
;
13
;
Ellen S. Regalado
1
;
Lauren Mellor-Crummey
1
;
Callie S. Kwartler
1
;
Dong Kim
2
;
Kenneth Lieberman
3
;
Bert B.A. de Vries
4
;
Rolph Pfundt
4
;
Albert Schinzel
5
;
Dieter Kotzot
6
;
Xuetong Shen
7
;
Min-Lee Yang
8
;
University
of
Washington
Center
for
Mendelian
Genomics
刊名:The American Journal
of
Human Genetics
出版年:2017
2.
Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis
作者:
Tassos Grammatikopoulos
1
;
2
;
t.grammatikopoulos@nhs.net" class="auth_mail" title="E-mail the corresponding author
;
Melissa Sambrotta
2
;
Sandra Strautnieks
3
;
Pierre Foskett
3
;
A.S. Knisely
3
;
&dagger
;
;
Bart Wagner
4
;
Maesha Deheragoda
3
;
Chris Starling
3
;
Giorgina Mieli-Vergani
1
;
2
;
Joshua Smith
5
;
University
of
Washington
Center
for
Mendelian
Genomics
5
关键词:
ADPKD
;
autosomal dominant polycystic kidney disease
;
ARPKD
;
autosomal recessive polycystic kidney disease
;
ACALT
;
acetylated alpha-tubulin
;
BA
;
biliary atresia
;
Ca2+
;
calcium
;
CHF
;
congenital hepatic fibrosis
;
DCDC2
;
doublecortin domain containing protein 2
;
DCX
;
doublecortin gene family
;
ERCP
;
endoscopic retrograde cholangiopancreatography
;
ERK
;
extracellular signal-regulated kinase
;
GGT
;
γ-glutamyltransferase
;
IFT
;
intraflagellary transport system
;
KCH
;
King&rsquo
;
s College Hospital
;
LT
;
liver
刊名:Journal
of
Hepatology
出版年:2016
3.
Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86
作者:
Atteeq聽U. Rehman
;
Regie聽Lyn聽P. Santos-Cortez
;
Robert聽J. Morell
;
Meghan聽C. Drummond
;
Taku Ito
;
Kwanghyuk Lee
;
Asma聽A. Khan
;
Muhammad聽Asim聽R. Basra
;
Naveed Wasif
;
Muhammad Ayub
;
Rana聽A. Ali
;
Syed聽I. Raza
;
University
of
Washington
Center
for
Mendelian
Genomics
;
Deborah聽A. Nickerson
;
Jay Shendure
;
Michael Bamshad
;
Saima Riazuddin
;
Neil Billington
;
Shaheen聽N. Khan
;
Penelope聽L. Friedman
;
Andrew聽J. Griffith
;
et al.
刊名:The American Journal
of
Human Genetics
出版年:2 January, 2014
4.
Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5
作者:
Margaret J. McMillin
1
;
40
;
Anita E. Beck
1
;
2
;
40
;
Jessica X. Chong
1
;
Kathryn M. Shively
1
;
Kati J. Buckingham
1
;
Heidi I.S. Gildersleeve
1
;
Mariana I. Aracena
3
;
4
;
Arthur S. Aylsworth
5
;
Pierre Bitoun
6
;
John C. Carey
7
;
Carol L. Clericuzio
8
;
Yanick J. Crow
9
;
Cynthia J. Curry
10
;
Koenraad Devriendt
11
;
David B. Everman
12
;
Alan Fryer
13
;
Kate Gibson
14
;
Maria Luisa Giovannucci Uzielli
15
;
John M. Graham Jr.
16
;
Judith G. Hall
17
;
Jacqueline T. Hecht
18
;
Randall A. Heidenreich
8
;
Jane A. Hurst
19
;
Sarosh Irani
20
;
Ingrid P.C. Krapels
21
;
Jules G. Leroy
22
;
David Mowat
23
;
24
;
Gordon T. Plant
25
;
Stephen P. Robertson
26
;
Elizabeth K. Schorry
27
;
Richard H. Scott
19
;
Laurie H. Seaver
28
;
Elliott Sherr
29
;
Miranda Splitt
30
;
Helen Stewart
31
;
Constance Stumpel
21
;
Sehime G. Temel
32
;
33
;
34
;
David D. Weaver
35
;
Margo White
for
d
36
;
Marc S. Williams
37
;
Holly K. Tabor
2
;
38
;
Joshua D. Smith
39
;
Jay Shendure
39
;
Deborah A. Nickerson
39
;
University
of
Washington
Center
for
Mendelian
Genomics
刊名:The American Journal
of
Human Genetics
出版年:1 May 2014
5.
Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D
作者:
Margaret J. McMillin
1
;
2
;
Jennifer E. Below
3
;
Kathryn M. Shively
1
;
Anita E. Beck
1
;
2
;
Heidi I. Gildersleeve
1
;
Jason Pinner
4
;
Gloria R. Gogola
5
;
Jacqueline T. Hecht
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. Mef
for
d
1
;
2
;
Jay Shendure
3
;
Deborah A. Nickerson
3
;
Michael J. Bamshad
1
;
2
;
3
;
mbamshad@uw.edu
;
the
University
of
Washington
Center
for
Mendelian
Genomics
刊名:The American Journal
of
Human Genetics
出版年:2013
6.
Whole-Genome Analysis Reveals that Mutations in Inositol Polyphosphate Phosphatase-like 1 Cause Opsismodysplasia
作者:
Jennifer E. Below
1
;
Dawn L. Earl
2
;
3
;
Kathryn M. Shively
3
;
Margaret J. McMillin
3
;
Joshua D. Smith
1
;
Emily H. Turner
1
;
Mark J. Stephan
4
;
Lihadh I. Al-Gazali
5
;
Jozef L. Hertecant
5
;
David Chitayat
6
;
Sheila Unger
7
;
Daniel H. Cohn
8
;
9
;
Deborah Krakow
9
;
10
;
James M. Swanson
11
;
Elaine M. Faustman
12
;
Jay Shendure
1
;
Deborah A. Nickerson
1
;
Michael J. Bamshad
1
;
2
;
3
;
mbamshad@uw.edu
;
University
of
Washington
Center
for
Mendelian
Genomics
刊名:The American Journal
of
Human Genetics
出版年:2013
7.
Mosaicism
of
the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder
of
Glycosylation
作者:
Bobby G. Ng
1
;
Kati J. Buckingham
2
;
Kimiyo Raymond
3
;
Martin Kircher
4
;
Emily H. Turner
4
;
Miao He
5
;
Joshua D. Smith
4
;
Alexey Eroshkin
1
;
Marta Szybowska
6
;
Marie E. Losfeld
1
;
Jessica X. Chong
2
;
Mariya Kozenko
6
;
Chumei Li
6
;
Marc C. Patterson
7
;
Rodney D. Gilbert
8
;
Deborah A. Nickerson
4
;
Jay Shendure
4
;
Michael J. Bamshad
2
;
4
;
University
of
Washington
Center
for
Mendelian
Genomics
刊名:The American Journal
of
Human Genetics
出版年:2013
8.
Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease
作者:
Emma M. Jenkinson
1
;
14
;
Atteeq U. Rehman
2
;
14
;
Tom Walsh
3
;
14
;
Jill Clayton-Smith
1
;
Kwanghyuk Lee
4
;
Robert J. Morell
2
;
Meghan C. Drummond
2
;
Shaheen N. Khan
5
;
Muhammad Asif Naeem
5
;
Bushra Rauf
5
;
Neil Billington
6
;
Julie M. Schultz
2
;
Jill E. Urquhart
1
;
Ming K. Lee
3
;
Andrew Berry
7
;
Neil A. Hanley
7
;
Sarju Mehta
8
;
Deirdre Cilliers
9
;
Peter E. Clayton
10
;
Helen Kingston
1
;
Miriam J. Smith
1
;
Thomas T. Warner
11
;
University
of
Washington
Center
for
Mendelian
Genomics
刊名:The American Journal
of
Human Genetics
出版年:2013
9.
Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome
作者:
Alexander G. Marneros
1
;
18
;
Anita E. Beck
2
;
18
;
Emily H. Turner
3
;
18
;
Margaret J. McMillin
2
;
Matthew J. Edwards
4
;
Michael Field
5
;
Nara Lygia de Macena Sobreira
6
;
Ana Beatriz A. Perez
7
;
Jose A.R.
For
tes
8
;
Anne K. Lampe
9
;
Maria Luisa Giovannucci Uzielli
10
;
11
;
Christopher T. Gordon
12
;
13
;
Ghislaine Plessis
14
;
Martine Le Merrer
14
;
Jeanne Amiel
14
;
Ernst Reichenberger
15
;
Kathryn M. Shively
2
;
Felecia Cerrato
16
;
Brian I. Labow
16
;
Holly K. Tabor
17
;
Joshua D. Smith
3
;
Jay Shendure
3
;
Deborah A. Nickerson
3
;
Michael J. Bamshad
2
;
3
;
mbamshad@uw.edu
;
the
University
of
Washington
Center
for
Mendelian
Genomics
刊名:The American Journal
of
Human Genetics
出版年:2013
10.
Mutations in KARS, Encoding Lysyl-tRNA Synthetase, Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB89
作者:
Regie?Lyn?P. Santos-Cortez
;
Kwanghyuk Lee
;
Zahid Azeem
;
Patrick?J. Antonellis
;
Lana?M. Pollock
;
Saadullah Khan
;
Irfanullah
;
Paula?B. Andrade-Elizondo
;
Ilene Chiu
;
Mark?D. Adams
;
Sulman Basit
;
Joshua?D. Smith
;
University
of
Washington
Center
?
for
?
Mendelian
Genomics
;
Deborah?A. Nickerson
;
Brian?M. McDermott Jr.
;
Wasim Ahmad
;
Suzanne?M. Leal
刊名:The American Journal
of
Human Genetics
出版年:2013
1
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