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Wiley电子期刊(379)
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Elsevier电子期刊(14306)
Springer电子图书(22)
ProQuest学位论文(24)
GSW全文库(1)
ACS电子期刊(579)
在“
Springer电子图书
”中,
命中:
22
条,耗时:小于0.01 秒
在所有数据库中总计命中:
22,550
条
1.
Prion protein amyloidosis with divergent phenotype associated with two
novel
nonsense
mutation
s in <i>PRNP</i>
ContentType:Journal Article
Publisher:
Springer Berlin / Heidelberg
Author:
Casper Jansen
;
Piero Parchi
;
Sabina Capellari
;
Ad J. Vermeij
;
Patrizia Corrado
;
Frank Baas
;
Rosaria Strammiello
;
Willem A. van Gool
;
John C. van Swieten
;
Annemieke J. M. Rozemuller
2.
Phosphoglycerate mutase deficiency: case report of a manifesting heterozygote with a
novel
E154K
mutation
and very late onset
ContentType:Journal Article
Publisher:
Springer Berlin / Heidelberg
Author:
Pushpa Raj Joshi
;
Manuela Knape
;
Stephan Zierz
;
Marcus Deschauer
3.
Absence of <i>IDH</i>
mutation
identifies a
novel
radiologic and molecular subtype of WHO grade II gliomas with dismal prognosis
ContentType:Journal Article
Publisher:
Springer Berlin / Heidelberg
Author:
Philippe Metellus
;
Bema Coulibaly
;
Carole Colin
;
Andre Maues de Paula
;
Alexandre Vasiljevic
;
David Taieb
;
Anne Barlier
;
Blandine Boisselier
;
Karima Mokhtari
;
Xiao Wei Wang
;
Anderson Loundou
;
Frederique Chapon
;
Sandrine Pineau
;
L’Houcine Ouafik
;
Olivier Chinot
;
Dominique Figarella-Branger
4.
The
novel
<i>Tau</i>
mutation
G335S: clinical, neuropathological and molecular characterization
ContentType:Journal Article
Publisher:
Springer Berlin / Heidelberg
Author:
Salvatore Spina
;
Jill R. Murrell
;
Hirotaka Yoshida
;
Bernardino Ghetti
;
Niamh Bermingham
;
Brian Sweeney
;
Stephen R. Dlouhy
;
R. Anthony Crowther
;
Michel Goedert
;
Catherine Keohane
5.
Novel
mutation
and the first prenatal screening of cathepsin D deficiency (CLN10)
ContentType:Journal Article
Publisher:
Springer Berlin / Heidelberg
Author:
Karen Fritchie
;
Eija Siintola
;
Diane Armao
;
Anna-Elina Lehesjoki
;
Thomas Marino
;
Cynthia Powell
;
Michael Tennison
;
Jessica M. Booker
;
Sabine Koch
;
Sanna Partanen
;
Kinuko Suzuki
;
Jaana Tyynelä
;
Leigh B. Thorne
6.
Congenital type IV glycogenosis: the spectrum of pleomorphic polyglucosan bodies in muscle, nerve, and spinal cord with two
novel
mutation
s in the GBE1 gene
ContentType:Journal Article
Publisher:
Springer Berlin / Heidelberg
Author:
Kay W. Nolte
;
Andreas R. Janecke
;
Matthias Vorgerd
;
Joachim Weis
;
J. Michael Schröder
7.
Alexander disease with occipital predominance and a
novel
c.799G>C
mutation
in the GFAP gene
ContentType:Journal Article
Publisher:
Springer Berlin / Heidelberg
Author:
Reetta Hinttala
;
Vesa Karttunen
;
Ari Karttunen
;
Riitta Herva
;
Johanna Uusimaa
;
Anne M. Remes
8.
An autopsy case of adult-onset hereditary spastic paraplegia type 2 with a
novel
mutation
in exon 7 of the proteolipid protein 1 gene
ContentType:Journal Article
Publisher:
Springer Berlin / Heidelberg
Author:
Satoshi O. Suzuki
;
Toru Iwaki
;
Kenji Arakawa
;
Hirokazu Furuya
;
Naoki Fujii
;
Akiko Iwaki
9.
An Egyptian case of congenital hyperinsulinism of infancy due to a
novel
mutation
in KCNJ11 encoding Kir6.2 and response to octreotide
ContentType:Journal Article
Publisher:
Springer Milan
Author:
Eman M. Sherif
;
Abeer A. Abdelmaksoud
;
Nancy S. Elbarbary
;
Pål Rasmus Njølstad
10.
Mutation
Analysis in Glycogen Storage Disease Type III Patients in the Netherlands:
Novel
Genotype-Phenotype Relationships and Five Novel Mutations in the <i>AGL</i> Gene
ContentType:Book Chapter
Publisher:
Springer Berlin Heidelberg
Author:
Garry Brown
;
Eva Morava
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