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Ellis-Van Creveld Syndrome
Known as:
CHONDROECTODERMAL DYSPLASIA
, Ellis Van Creveld Syndrome
, Dysplasia, Chondroectodermal
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A rare autosomal recessive syndrome caused by mutations in the EVC gene. It is characterized by dwarfism, small chest, ectodermal dysplasia, and…
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National Institutes of Health
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Related topics
Related topics
26 relations
Narrower (2)
Asphyxiating Thoracic Dystrophy 2
Jeune thoracic dystrophy
Atrial Septal Defects
Autosomal recessive inheritance
Cartilage Diseases
Common atrium
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2006
2006
GEDRAG VAN ZWARE METALEN IN AANGELEGDE ZUIVERINGSMOERASSEN BEHAVIOUR OF HEAVY METALS IN CONSTRUCTED TREATMENT WETLANDS
E. Lesage
2006
Corpus ID: 133565619
s Lesage, E., Roggeman, S., De Pauw, N., Du Laing, G., Meers, E., Rousseau, D.P.L., Tack, F.M.G. and Verloo, M.G. (2003). Copper…
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2001
2001
Ellis-van Creveld syndrome resulting from segmental uniparental disomy of chromosome 4
S. Tompson
,
V. Ruiz-Perez
,
M. Wright
,
J. Goodship
Journal of Medical Genetics
2001
Corpus ID: 1512422
Editor—Our recent report describing the gene mutated in Ellis-van Creveld syndrome (EvC) included a “homozygous” mutation in an…
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Highly Cited
1999
Highly Cited
1999
Effectiveness of current farming systems in the control of dryland salinity
G. Walker
,
M. Gilfedder
,
J. Williams
1999
Corpus ID: 67795771
Review
1999
Review
1999
Coherence and Conservatism in the Dynamics of Belief
H. Rott
1999
Corpus ID: 2831591
In this paper I discuss the foundations of a formal theory of coherent and conservative belief change that is (a) suitable to be…
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1985
1985
Colonization and histopathology of susceptible and resistant carnation cultivars infected with Fusarium oxysporum f. sp. dianthi
R. P. Baayen
,
D. Elgersma
Netherlands Journal of Plant Pathology
1985
Corpus ID: 41281954
Stems of the susceptible ‘Early Sam’ and resistant ‘Novada’ carnations were inoculated with a conidial suspension ofFusarium…
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Highly Cited
1981
Highly Cited
1981
Model Calculations of Potential Surfaces of van der Waals Complexes Containing Large Aromatic Molecules
M. Ondrechen
,
Z. Berkovitch-yellin
,
J. Jortner
1981
Corpus ID: 59154798
In this paper we report the results of model calculations of the nuclear potential surfaces of van der Waals complexes consisting…
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1972
1972
Bud necrosis, a storage disease of tulips. III. The influence of ethylene and mites
W. Munk
Netherlands Journal of Plant Pathology
1972
Corpus ID: 44014302
Experiments demonstrated that bud necrosis in tulip bulbs is caused by mites that penetrate the flower bud during storage. This…
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1962
1962
Congenital heart disease in an adult with the Ellis-van Creveld syndrome.
F. Tubbs
,
L. Crevasse
,
J. Green
Annals of Internal Medicine
1962
Corpus ID: 19703008
Excerpt McIntosh (1) in 1933 described a patient who presented with ectodermal dysplasia, polydactyly, and chondrodysplasia. In…
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1957
1957
The Pycnogonid family Austrodecidae
J. Stock
1957
Corpus ID: 190708931
DE PYCNOGONIDEN- FAMILIE AUSTRODECIDAE Toen mij, in 1954, uit Oslo een verzameling Pycnogonida van de „Norwegian Scientific…
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1931
1931
Oud Soerabaia : de geschiedenis van Indië's eerste koopstad van de oudste tijden tot de instelling van den gemeenteraad (1906)
G. Faber
1931
Corpus ID: 190362171