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European Journal of Medical Genetics
|
November 3, 2009
Radicular dysfunction due to spinal deformities in Marfan syndrome at older age: three case reports
N C Voermans, A J Hosman, N van Alfen, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1992
Paediatric cerebrotendinous xanthomatosis
R A Wevers, J R Cruysberg, A F Van Heijst, et al.
Internal Medicine Journal
|
August 2, 2014
Fever-induced recurrent rhabdomyolysis due to a novel mutation in the ryanodine receptor type 1 gene
J P Molenaar, N C Voermans, B J van Hoeve, et al.
Radiology
|
December 9, 2000
Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings
F Barkhof, A Verrips, P Wesseling, et al.
Human Genetics
|
April 1, 1998
A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia
M J van Belzen, J A Hiel, C M Weemaes, et al.
Neuromuscular Disorders : NMD
|
May 3, 2016
Characterization of sarcoplasmic reticulum Ca(2+) ATPase pumps in muscle of patients with myotonic dystrophy and with hypothyroid myopathy
V Guglielmi, A Oosterhof, N C Voermans, et al.
Archives of Neurology
|
April 18, 2000
Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis
A Verrips, B G van Engelen, R A Wevers, et al.
Journal of Neurology
|
April 17, 2002
Clinical and serological characteristics of 125 Dutch myositis patients. Myositis specific autoantibodies aid in the differential diagnosis of the idiopathic inflammatory myopathies
G J D Hengstman, R Brouwer, W T M Vree Egberts, et al.
Brain : a Journal of Neurology
|
April 25, 2000
Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis
A Verrips, L H Hoefsloot, G C Steenbergen, et al.
Clinical Genetics
|
September 2, 2016
Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients
S Demirdas, E Dulfer, L Robert, et al.
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of 12
Search research articles
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Showing results (81-90 of 113) with videos related to
Sort By:
Page
of 12
European Journal of Medical Genetics
|
November 3, 2009
Radicular dysfunction due to spinal deformities in Marfan syndrome at older age: three case reports
N C Voermans, A J Hosman, N van Alfen, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1992
Paediatric cerebrotendinous xanthomatosis
R A Wevers, J R Cruysberg, A F Van Heijst, et al.
Internal Medicine Journal
|
August 2, 2014
Fever-induced recurrent rhabdomyolysis due to a novel mutation in the ryanodine receptor type 1 gene
J P Molenaar, N C Voermans, B J van Hoeve, et al.
Radiology
|
December 9, 2000
Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings
F Barkhof, A Verrips, P Wesseling, et al.
Human Genetics
|
April 1, 1998
A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia
M J van Belzen, J A Hiel, C M Weemaes, et al.
Neuromuscular Disorders : NMD
|
May 3, 2016
Characterization of sarcoplasmic reticulum Ca(2+) ATPase pumps in muscle of patients with myotonic dystrophy and with hypothyroid myopathy
V Guglielmi, A Oosterhof, N C Voermans, et al.
Archives of Neurology
|
April 18, 2000
Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis
A Verrips, B G van Engelen, R A Wevers, et al.
Journal of Neurology
|
April 17, 2002
Clinical and serological characteristics of 125 Dutch myositis patients. Myositis specific autoantibodies aid in the differential diagnosis of the idiopathic inflammatory myopathies
G J D Hengstman, R Brouwer, W T M Vree Egberts, et al.
Brain : a Journal of Neurology
|
April 25, 2000
Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis
A Verrips, L H Hoefsloot, G C Steenbergen, et al.
Clinical Genetics
|
September 2, 2016
Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients
S Demirdas, E Dulfer, L Robert, et al.
Page
of 12