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SpringerLink电子期刊(14)
在“
SpringerLink电子期刊
”中,
命中:
14
条,耗时:小于0.01 秒
在所有数据库中总计命中:
14
条
1.
Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients
作者:
R. P. Dias
;
C. R. Buchanan
;
N. Thomas
;
S. Lim…
关键词:
Neonatal Diabetes
;
Os Odontoideum
;
Wolcott
;
Rallison Syndrome
;
Atlanto
;
axial instability
刊名:Orphanet Journal of Rare Diseases
出版年:2016
2.
Cytotoxicity, genotoxicity and mechanism of action (via gene expression analysis) of the indole alkaloid aspidospermine (antiparasitic) extracted from Aspidosperma polyneuron in HepG2 cells
作者:
Giuliana Castello Coatti
;
Juliana Cristina Marcarini
;
Daniele Sartori…
刊名:Cytotechnology
出版年:2016
3.
Primary hypothyroidism and nipple hypoplasia in a girl with Wolcott–Rallison syndrome
作者:
Anita ?pehar Uroi? (1)
Vjosa Mulliqi Kotori (2)
Nata?a Rojni? Putarek (3)
Vesna Ku?ec (4)
Miroslav Dumi? (3)
关键词:
Wolcott–Rallison syndrome
;
EIF2AK3
;
Primary hypothyroidism
;
Nipple hypoplasia
刊名:European Journal of Pediatrics
出版年:2014
4.
The unfolded protein response is activated in disease-affected brain regions in progressive supranuclear palsy and Alzheimer’s disease
作者:
Lauren D Stutzbach (1)
Sharon X Xie (3)
Adam C Naj (3)
Roger Albin (4) (5) (6)
Sid Gilman (4)
Virginia M Y Lee (1) (2)
John Q Trojanowski (1) (2)
Bernie Devlin (7)
Gerard D Schellenberg (1) (8)
关键词:
Progressive supranuclear palsy
;
PERK
;
Unfolded protein response
;
EIF2AK3
;
Alzheimer’s disease
刊名:Acta Neuropathologica Communications
出版年:2013
5.
Wolcott Rallison Syndrome: A Rare Inherited Diabetes Mellitus
作者:
Shruti Khare (1)
Manjunath Ramappa Goroshi (1)
Sweta Budyal (1)
Tushar Bandgar (1)
Anurag Lila (1)
Nalini Shah (1)
关键词:
Neonatal diabetes mellitus
;
Liver dysfunction
;
Exocrine pancreatic deficiency
;
Skeletal dysplasia
;
Permanent non autoimmune diabetes mellitus
刊名:The Indian Journal of Pediatrics
出版年:2014
6.
Short stature in child with early-onset diabetes
作者:
C. P. Hawkes (1)
S. M. McGlacken-Byrne (1)
N. P. Murphy (1)
关键词:
Diabetes mellitus
;
Bone
;
Genetic diabetes
;
Neonate
;
Short stature
;
Wolcott Rallison syndrome
刊名:European Journal of Pediatrics
出版年:2013
7.
Neonatal Diabetes: An Expanding List of Genes Allows for Improved Diagnosis and Treatment
作者:
Siri Atma W. Greeley (1)
Rochelle N. Naylor (1)
Louis H. Philipson (1)
Graeme I. Bell (1)
关键词:
Neonatal diabetes
;
Monogenic diabetes
;
NDM
;
PNDM
;
TNDM
;
MODY
;
KCNJ11
;
ABCC8
;
KATP
;
INS
;
6q24
;
EIF2AK3
;
GCK
;
PDX1
;
FOXP3
;
IPEX
;
PTF1A
;
RFX6
;
NEUROG3
;
NEUROD1
;
WFS1
;
DIDMOAD
;
SLC19A2
;
TRMA
;
SLC2A2
;
GLIS3
;
HNF1B
;
IER3IP1
刊名:Current Diabetes Reports
出版年:2011
8.
Wolcott-Rallison syndrome
作者:
Cécile Julier (1) (2)
Marc Nicolino (3) (4)
刊名:Orphanet Journal of Rare Diseases
出版年:2010
9.
Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus
作者:
M. C. Y. de Wit
;
I. F. M. de Coo
;
C. Julier
;
M. Delépine
;
M. H. Lequin
;
I. van de Laar
;
B. J. Sibbles
;
G. J. Bruining and G. M. S. Mancini
关键词:
EIF2AK3
;
Insulin dependent diabetes mellitus
;
Malformation of cortical development
;
Simplified gyral pattern
;
Wolcott–Rallison syndrome
刊名:neurogenetics
出版年:2006
10.
Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus
作者:
M. C. Y. de Wit
;
I. F. M. de Coo
;
C. Julier
;
M. Del¨¦pine
;
M. H. Lequin
;
I. van de Laar
;
B. J. Sibbles
;
G. J. Bruining and G. M. S. Mancini
关键词:
EIF2AK3
;
Insulin dependent diabetes mellitus
;
Malformation of cortical development
;
Simplified gyral pattern
;
Wolcott–
;
Rallison syndrome
刊名:neurogenetics
出版年:2006
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