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内部出版物
在“
Elsevier电子期刊
”中,
命中:
7
条,耗时:小于0.01 秒
1.
Poor Correlations in the Levels of Pathogenic Mitochondrial DNA Mutations in Polar Bodies versus Oocytes and Blastomeres in Humans
作者:
Nadine Gigarel
1
;
5
;
Laetitia Hesters
2
;
5
;
David
;
C. Samuels
4
;
Sophie Monnot
1
;
Philippe Burlet
1
;
Violaine Kerbrat
3
;
Fré
;
dé
;
ric Lamazou
3
;
Alexandra Benachi
3
;
René
;
Frydman
3
;
Josué
;
Feingold
1
;
Agnes Rotig
1
;
Arnold Munnich
1
;
Jean-Paul Bonnefont
1
;
Nelly Frydman
2
;
Julie
Steffann
1
;
julie
.
steffann
@inserm.fr
刊名:The American Journal of Human Genetics
出版年:2011
2.
NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement
作者:
E. Leshinsky-Silver
;
Anne-Sophie Lebre
;
Limor Minai
;
Ann Saada
;
Julie
Steffann
;
Sarit Cohen
;
Agnes Rö
;
tig
;
Arnold Munnich
;
Dorit Lev
;
Tally Lerman-Sagie
关键词:
Mitochondria
;
Respiratory chain
;
Leigh syndrome
;
NDUFS4
;
Complex I
;
Assembly
刊名:Molecular Genetics and Metabolism
出版年:2009
3.
Preimplantation genetic diagnosis: State of the art
作者:
Claire Basille
;
René
;
Frydman
;
Abdelwahab El Aly
;
Laetitia Hesters
;
Renato Fanchin
;
Gé
;
rard Tachdjian
;
Julie
Steffann
;
Marc LeLorc’
h ;
Nelly Achour-Frydman
关键词:
Preimplantation genetic diagnosis (PGD)
;
Chromosomal abnormality
;
Single gene disorder
;
In vitro fertilization
;
Preimplantation genetic screening (PGS)
;
Advances
;
Human leucocyte antigen (HLA) typing
刊名:European Journal of Obstetrics and Gynecology and Reproductive Biology
出版年:2009
4.
Five years’ experience of preimplantation genetic diagnosis in the Parisian Center: outcome of the first 441 started cycles
作者:
Estelle Feyereisen
;
Julie
Steffann
;
Serge Romana
;
Marc Lelorc’
h ;
Pierre Ray
;
Violaine Kerbrat
;
Gé
;
rard Tachdjian
;
René
;
Frydman
;
Nelly Frydman
关键词:
Preimplantation genetic diagnosis (PGD)
;
translocations
;
chromosomal rearrangements
;
single gene defects
;
X-linked disorders
;
mitochondrial DNA disorders
刊名:Fertility and Sterility
出版年:2007
5.
A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome
作者:
Sophie Lebon
;
Limor Minai
;
Dominique Chretien
;
Johanna Corcos
;
Valé
;
rie Serre
;
Noman Kadhom
;
Julie
Steffann
;
Jean-Yves Pauchard
;
Arnold Munnich
;
Jean-Paul Bonnefont
;
Agnè
;
s Rö
;
tig
关键词:
Mitochondria
;
Leigh syndrome
;
NDUFS7
;
Complex I assembly
;
Cryptic exon
刊名:Molecular Genetics and Metabolism
出版年:2007
6.
Improved single-cell protocol for preimplantation genetic diagnosis of spinal muscular atrophy
作者:
Philippe Burlet
;
Nelly Frydman
;
Nadine Gigarel
;
Jean Paul Bonnefont
;
Violaine Kerbrat
;
Gé
;
rard Tachdjian
;
René
;
Frydman
;
Arnold Munnich
;
Julie
Steffann
;
Pierre F. Ray
关键词:
Preimplantation genetic diagnosis
;
PCR
;
spinal muscular atrophy
;
prenatal diagnosis
刊名:Fertility and Sterility
出版年:2005
7.
Large-Scale Deletions and SMADIP1
作者:
Jeanne Amiel
;
Yol
;
a Espinosa-Parrilla
;
Julie
Steffann
;
Philippe Gosset
;
Anna Pelet
;
Marguerite Prieur
;
Odile Boute
;
Agnè
;
s Choiset
;
Didier Lacombe
;
Nicole Philip
;
Martine Le Merrer
;
Hajime Tanaka
;
Marianne Till
;
Renaud Touraine
;
Annick Toutain
;
Michel Vekemans
;
Arnold Munnich
;
Stanislas Lyonnet
刊名:The American Journal of Human Genetics
出版年:2001
1
按检索点细分(7)
作者(7)
按出版年细分(7)
2011年(1)
2009年(2)
2007年(2)
2005年(1)
2001年(1)
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