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Springer电子图书(66)
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在“
Springer电子图书
”中,
命中:
66
条,耗时:小于0.01 秒
在所有数据库中总计命中:
157,819
条
1.
Analysis of <i>BRAF</i> V600E
mutation
in 1,320 nervous system tumors reveals high
mutation
frequencies in pleomorphic xanthoastrocytoma, ganglioglioma and extra-cerebellar pilocytic astrocytoma
ContentType:Journal Article
Publisher:
Springer Berlin / Heidelberg
Author:
Gene
vieve Schindler
;
David Capper
;
Jochen Meyer
;
Wibke Janzarik
;
Heymut Omran
;
Christel Herold-Mende
;
Kirsten Schmieder
;
Pieter Wesseling
;
Christian Mawrin
;
Martin Hasselblatt
;
David N. Louis
;
Andrey Korshunov
;
Stefan Pfister
;
Christian Hartmann
;
Werner Paulus
;
Guido Reifenberger
;
Andreas von Deimling
2.
Assessment of <i>BRAF</i> V600E
mutation
status by immunohistochemistry with a
mutation
-specific monoclonal antibody
ContentType:Journal Article
Publisher:
Springer Berlin / Heidelberg
Author:
David Capper
;
Matthias Preusser
;
Antje Habel
;
Felix Sahm
;
Ulrike Ackermann
;
Gene
vieve Schindler
;
Stefan Pusch
;
Gunhild Mechtersheimer
;
Hanswalter Zentgraf
;
Andreas von Deimling
3.
Phenotype variability and neonatal diabetes in a large family with heterozygous
mutation
of the glucokinase
gene
ContentType:Journal Article
Publisher:
Springer Milan
Author:
Maciej Borowiec
;
Malgorzata Mysliwiec
;
Wojciech Fendler
;
Karolina Antosik
;
Agnieszka Brandt
;
Maciej Malecki
;
Wojciech Mlynarski
4.
The most common type of FTLD-FUS (aFTLD-U) is associated with a distinct clinical form of frontotemporal dementia but is not related to
mutation
s in the <i>FUS</i>
gene
ContentType:Journal Article
Publisher:
Springer Berlin / Heidelberg
Author:
Julie S. Snowden
;
Quan Hu
;
Sara Rollinson
;
Nicola Halliwell
;
Andrew Robinson
;
Yvonne S. Davidson
;
Parastoo Momeni
;
Atik Baborie
;
Timothy D. Griffiths
;
Evelyn Jaros
;
Robert H. Perry
;
Anna Richardson
;
Stuart M. Pickering-Brown
;
David Neary
;
David M. A. Mann
5.
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
6.
Activating L265P
mutation
s of the <i>MYD88</i>
gene
are common in primary central nervous system lymphoma
ContentType:Journal Article
Publisher:
Springer Berlin / Heidelberg
Author:
Manuel Montesinos-Rongen
;
Elzbieta Godlewska
;
Anna Brunn
;
Otmar D. Wiestler
;
Reiner Siebert
;
Martina Deckert
7.
TDP-43 immunoreactivity in neuronal inclusions in familial amyotrophic lateral sclerosis with or without SOD1
gene
mutation
ContentType:Journal Article
Publisher:
Springer Berlin / Heidelberg
Author:
Chun-Feng Tan
;
Hiroto Eguchi
;
Asako Tagawa
;
Osamu Onodera
;
Takuya Iwasaki
;
Akira Tsujino
;
Masatoyo Nishizawa
;
Akiyoshi Kakita
;
Hitoshi Takahashi
8.
Gene
tic Creutzfeldt-Jakob disease associated with the E200K
mutation
: characterization of a complex proteinopathy
ContentType:Journal Article
Publisher:
Springer Berlin / Heidelberg
Author:
Gabor G. Kovacs
;
Jérémie Seguin
;
Isabelle Quadrio
;
Romana Höftberger
;
István Kapás
;
Nathalie Streichenberger
;
Anne Gaëlle Biacabe
;
David Meyronet
;
Raf Sciot
;
Rik Vandenberghe
;
Katalin Majtenyi
;
Lajos László
;
Thomas Ströbel
;
Herbert Budka
;
Armand Perret-Liaudet
9.
Activating
mutation
s of the <i>GNAQ</i>
gene
: a frequent event in primary melanocytic neoplasms of the central nervous system
ContentType:Journal Article
Publisher:
Springer Berlin / Heidelberg
Author:
Heidi V. N. Küsters-Vandevelde
;
Annelies Klaasen
;
Benno Küsters
;
Patricia J. T. A. Groenen
;
Ilse A. C. H. van Engen-van Grunsven
;
Marcory R. C. F. van Dijk
;
Guido Reifenberger
;
Pieter Wesseling
;
Willeke A. M. Blokx
10.
Activation of Akt independent of <i>PTEN</i> and <i>CTMP</i> tumor-suppressor
gene
mutation
s in epilepsy-associated Taylor-type focal cortical dysplasias
ContentType:Journal Article
Publisher:
Springer Berlin / Heidelberg
Author:
Volker Schick
;
Michael Majores
;
Gudrun Engels
;
Sylvia Spitoni
;
Arend Koch
;
Christian E. Elger
;
Matthias Simon
;
Christiane Knobbe
;
Ingmar Blümcke
;
Albert J. Becker
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