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内部出版物
Wiley电子期刊(1)
SpringerLink电子期刊(6)
Elsevier电子期刊(12)
在“
Elsevier电子期刊
”中,
命中:
12
条,耗时:小于0.01 秒
在所有数据库中总计命中:
19
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.
Single nucleotide polymorphism array analysis in men with idiopathic?azoospermia or oligoasthenozoospermia syndrome
作者:
Anne Frü
;
hmesser
;
Ph.D.
a
;
Peter H. Vogt
;
Ph.D.
b
;
Jutta Zimmer
b
;
Martina Witsch-Baumgartner
;
Ph.D.
a
;
Christine Fauth
;
M.D.
a
;
Johannes Zschocke
;
Ph.D.
;
M.D.
a
;
Germar-Michael Pinggera
;
M.D.
c
;
Germar.Pinggera@uki.at
;
Dieter
Kotzot
;
M.D.
a
;
DieterKotzot
@gmx.de
关键词:
Male factor infertility
;
copy number variations
;
SNP array
;
calcium-activated chloride channels
刊名:Fertility and Sterility
出版年:2013
3.
Combined Dup(7)(q22.1q32.2), Inv(7)(q31.31q31.33), and Ins(7;19)(q22.1;p13.2p13.2) in a 12-year-old boy with developmental delay and various dysmorphism
作者:
Anne Fr¨¹hmesser
;
Martin Erdel
;
Hans-Christoph Duba
;
Christine Fauth
;
Albert Amberger
;
Gerd Utermann
;
Johannes Zschocke
;
Dieter
Kotzot
关键词:
Duplication
;
Inversion
;
Complex rearrangement
;
SNP array
刊名:European Journal of Medical Genetics
出版年:2013
4.
Single-Nucleotide Polymorphism Array-Based Characterization of Ring Chromosome 18
作者:
Ana Spreiz
;
Roberta S. Guilherme
;
Claudio Castellan
;
Andrew Green
;
Olaf Rittinger
;
Brigitte Wellek
;
Barbara Utermann
;
Martin Erdel
;
Christine Fauth
;
Edda Haberl
t ;
Chong A. Kim
;
Leslie D. Kulikowski
;
Vera A. Meloni
;
Gerd Utermann
;
Johannes Zschocke
;
Maria I. Melaragno
;
Dieter
Kotzot
关键词:
OFC
;
Occipitofrontal head circumference
;
r(18)
;
Ring chromosome
;
SNP
;
Single-nucleotide polymorphism
刊名:The Journal of Pediatrics
出版年:2013
5.
Mutations in ROGDI Cause Kohlsch¨¹tter-T?nz Syndrome
作者:
Anna Schossig
1
;
3
;
14
;
Nicole
;
I. Wolf
2
;
4
;
14
;
Christine Fischer
3
;
Maria Fischer
5
;
Gernot Stocker
5
;
Stephan Pabinger
5
;
Andreas Dander
5
;
Bernhard Steiner
6
;
Otmar Tö
;
nz
6
;
Dieter
Kotzot
1
;
Edda Haberlandt
7
;
Albert Amberger
1
;
Barbara Burwinkel
8
;
9
;
Katharina Wimmer
1
;
Christine Fauth
1
;
Caspar Grond-Ginsbach
10
;
Martin
;
J. Koch
11
;
Annette Deichmann
12
;
Christof von
;
Kalle
12
;
Claus
;
R. Bartram
3
;
Alfried Kohlschü
;
tter
13
;
Zlatko Trajanoski
5
;
Johannes Zschocke
1
;
3
;
johannes.zschocke@i-med.ac.at
刊名:The American Journal of Human Genetics
出版年:2012
6.
Parental origin and mechanism of formation of a 46,X,der(X)(pter→q21.1::p11.4→pter)/45,X karyotype in a woman with mild Turner syndrome
作者:
Franz Binkert
;
Ana Spreiz
;
Martina Hö
;
ckner
;
Peter Miny
;
Brigitte von Dach Leu
;
Martin Erdel
;
Johannes Zschocke
;
Gerd Utermann
;
Dieter
Kotzot
关键词:
X chromosome
;
parental origin
;
translocation
;
Turner syndrome
刊名:Fertility and Sterility
出版年:2010
7.
Etiology of chest wall deformities—a genetic review for the treating physician
作者:
Dieter
Kotzot
;
Anton H. Schwabegger
关键词:
Cleft sternum
;
Moebius anomaly
;
Pectus carinatum
;
Pectus excavatum
;
Poland anomaly
刊名:Journal of Pediatric Surgery
出版年:2009
8.
Unravelling the parental origin and mechanism of formation of the 47,XY,i(X)(q10) Klinefelter karyotype variant
作者:
Martina Hö
;
ckner
;
Germar-Michael Pinggera
;
Barbara Gü
;
nther
;
Consolato Sergi
;
Christine Fauth
;
Martin Erdel
;
Dieter
Kotzot
关键词:
Infertility
;
isochromosome
;
Klinefelter syndrome
刊名:Fertility and Sterility
出版年:2008
9.
Maternal uniparental disomy 7 and Silver–Russell syndrome – Clinical update and comparison with other subgroups
作者:
Dieter
Kotzot
关键词:
Epimutation
;
Genomic imprinting
;
Silver–
;
Russell syndrome
;
Uniparental disomy 7
刊名:European Journal of Medical Genetics
出版年:2008
10.
The changing phenotype in diploid/triploid mosaicism may mimic genetic syndromes with aberrant genomic imprinting: Follow up in a 14-year-old girl
作者:
Olaf Rittinger
;
Gabriela Kronberger
;
Andrea Pfeifenberger
;
Dieter
Kotzot
;
Christine Fauth
关键词:
Diploid/triploid mosaicism
;
Maternal origin
;
Second polar body inclusion
;
Aberrant genomic imprinting
刊名:European Journal of Medical Genetics
出版年:2008
1
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