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Disease Phenotype
The observable properties present during a disease.
National Institutes of Health
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
Changes of Crohn's disease phenotype over time.
Afef Ouaz
,
M. Fékih
,
+5 authors
A. Filali
La Tunisie medicale
2016
Corpus ID: 20896753
Background - Crohn's disease is a clinically heterogeneous condition. Our aim was to identify the phenotype evolution of Crohn's…
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2014
2014
Objective assessment of upper limb motor symptoms in Parkinson's Disease using body-worn sensors
J. Fisher
2014
Corpus ID: 70575295
2013
2013
Two novel PRPF31 premessenger ribonucleic acid processing factor 31 homolog mutations including a complex insertion-deletion identified in Chinese families with retinitis pigmentosa
B. Dong
,
Jieqiong Chen
,
Xiao-Hui Zhang
,
Zhe Pan
,
F. Bai
,
Yang Li
Molecular Vision
2013
Corpus ID: 17174805
Objective To identify the causative mutations in two Chinese families with retinitis pigmentosa (RP), and to describe the…
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2011
2011
RET point mutations in Thyroid Carcinoma
R. Elisei
,
C. Romei
,
+4 authors
A. Pinchera
2011
Corpus ID: 45966015
2010
2010
Haemoglobin Stanleyville II modifies sickle disease phenotype.
G. Burchall
,
E. Maxwell
Pathology (Sydney)
2010
Corpus ID: 40618286
1. Micholpoulos S, Petraki K, Petraki C, et al. Light chain deposition disease of the liver without renal involvement in a…
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2010
2010
The Genetic Background of Thrombosis - The Distributions of Factor V Leiden, Prothrombin G20210A, and MTHFR C677T Polymorphisms
A. Palko-Łabuz
,
A. Sadakierska-Chudy
,
W. Pilecki
2010
Corpus ID: 54813003
Background. Polymorphisms of factor V (Leiden) (G1691A) and the gene for prothrombin (G20210A) are the main single-nucleotide…
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2006
2006
Disease Phenotype of Virus-Infected Helminthosporium victoriae Is Independent of Overexpression of the Cellular Alcohol Oxidase/RNA-Binding Protein Hv-p68.
Tianyong Zhao
,
W. Havens
,
S. Ghabrial
Phytopathology
2006
Corpus ID: 21208748
ABSTRACT The cellular protein Hv-p68 is a novel alcohol oxidase/RNA-binding protein that is overexpressed in virus-infected…
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Review
2002
Review
2002
Overview of Treatment Trials: Early Baseline Clinical and MRI Data of the PROMiSe Trial
J. Wolinsky
,
P. Narayana
,
R. He
2002
Corpus ID: 68477637
Primary progressive multiple sclerosis (PPMS) is the least common clinical disease phenotype exhibited by MS patients. Current…
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1995
1995
Exclusion of a primary gene defect at the HLA locus in familial idiopathic dilated cardiomyopathy.
T M Olson
,
S. Thibodeau
,
P. Lundquist
,
D. J. Schaid
,
V V Michels
Journal of Medical Genetics
1995
Corpus ID: 3130324
Case control studies have reported associations between specific HLA class II antigens and idiopathic dilated cardiomyopathy (DCM…
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Review
1993
Review
1993
The genetics of the Gilles de la Tourette syndrome: a review.
van de Wetering Bj
,
Peter Heutink
Journal of Laboratory and Clinical Medicine
1993
Corpus ID: 11461292
The Gilles de la Tourette syndrome (GTS) is a hereditary, neuropsychiatric-neurobehavioral disorder with childhood onset that is…
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