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内部出版物
CNKI学位论文(12)
知网期刊论文(5)
在“
Elsevier电子期刊
”中,
命中:
4
条,耗时:小于0.01 秒
在所有数据库中总计命中:
17
条
1.
Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability
作者:
Nina B?gershausen
;
Nassim Shahrzad
;
Jessica?X. Chong
;
J¨¹rgen-Christoph von?Kleist-Retzow
;
Daniela Stanga
;
Yun Li
;
Francois?P. Bernier
;
Catrina?M. Loucks
;
Radu Wirth
;
Eric
?G.
Puffenberger
;
Robert?A. Hegele
;
Julia Schreml
;
Gabriel Lapointe
;
Katharina Keupp
;
Christopher?L. Brett
;
Rebecca Anderson
;
Andreas Hahn
;
A.?Micheil Innes
;
Oksana Suchowersky
;
Marilyn?B. Mets
;
et al.
刊名:The Am
eric
an Journal of Human Genetics
出版年:2013
2.
Osteoporosis-pseudoglioma syndrome: Description of 9 new cases and beneficial response to bisphosphonates
作者:
Elizabeth A. Streeten
;
Daniel McBride
;
Eric
Puffenberger
;
Marc E. Hoffman
;
Toni I. Pollin
;
Patrick Donnelly
;
Paul Sack
;
Holmes Morton
关键词:
Osteoporosis-pseudoglioma
;
Compound heterozygote
;
Juvenile osteoporosis
;
Blindness
;
LRP5
刊名:Bone
出版年:2008
3.
Genetic Mapping of Glutaric Aciduria, Type 3, to Chromosome 7 and Identification of Mutations in C7orf10
作者:
Eric
A. Sherman
;
Kevin A. Strauss
;
Silvia Tortorelli
;
Michael J. Bennett
;
Ina Knerr
;
D. Holmes Morton
;
Erik G.
Puffenberger
刊名:The Am
eric
an Journal of Human Genetics
出版年:2008
4.
Identification of C7orf11 (TTDN1) Gene Mutations and Genetic Heterogeneity in Nonphotosensitive Trichothiodystrophy
作者:
Kazuhiko Nakabayashi
;
Daniela Amann
;
Yan Ren
;
Ulpu Saarialho-Kere
;
Nili Avidan
;
Simone Gentles
;
Jeffrey R. MacDonald
;
Erik G.
Puffenberger
;
Angela M. Christiano
;
Amalia Martinez-Mir
;
Julio C. Salas-Alanis
;
Renata Rizzo
;
Esther Vamos
;
Anja Raams
;
Clifford Les
;
Eric
Seboun
;
Nicolaas G.J. Jaspers
;
Jacq
刊名:The Am
eric
an Journal of Human Genetics
出版年:2005
1
按检索点细分(4)
作者(4)
按出版年细分(4)
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2008年(2)
2005年(1)
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