Search research articles
Contact Us
Filters
Showing results (81-90 of 90) with videos related to
Page
of 9
Sort By:
You have reached the last page of results.
This site can display upto 90 results.
American Journal of Human Genetics
|
June 12, 1999
The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment
L A Kluijtmans, G H Boers, J P Kraus, 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.
The Netherlands Journal of Medicine
|
January 1, 1984
Homocystinuria versus Marfan's syndrome: the therapeutic relevance of the differential diagnosis
G H Boers, T W Polder, J R Cruysberg, 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.
European Journal of Pediatrics
|
January 25, 2002
Clinical and biochemical effects of zileuton in patients with the Sjögren-Larsson syndrome
M A Willemsen, M A Lutt, P M Steijlen, et al.
Annals of Neurology
|
October 1, 1992
Familial adult-onset muscular dystrophy with leukoencephalopathy
B G van Engelen, Q H Leyten, P L Bernsen, et al.
Neurology
|
May 5, 1999
Sjögren-Larsson syndrome: clinical and MRI/MRS findings in FALDH-deficient patients
P H van Domburg, M A Willemsen, J J Rotteveel, et al.
Neurology
|
September 22, 2010
3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy
S B Wortmann, B H Kremer, A Graham, et al.
American Journal of Human Genetics
|
June 5, 2001
Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene
A I den Hollander, J R Heckenlively, L I van den Born, et al.
American Journal of Human Genetics
|
September 16, 1999
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes
S Annunen, J Körkkö, M Czarny, et al.
Page
of 9
Search research articles
Search
Showing results (81-90 of 90) with videos related to
Sort By:
Page
of 9
You have reached the last page of results.
This site can display upto 90 results.
American Journal of Human Genetics
|
June 12, 1999
The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment
L A Kluijtmans, G H Boers, J P Kraus, 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.
The Netherlands Journal of Medicine
|
January 1, 1984
Homocystinuria versus Marfan's syndrome: the therapeutic relevance of the differential diagnosis
G H Boers, T W Polder, J R Cruysberg, 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.
European Journal of Pediatrics
|
January 25, 2002
Clinical and biochemical effects of zileuton in patients with the Sjögren-Larsson syndrome
M A Willemsen, M A Lutt, P M Steijlen, et al.
Annals of Neurology
|
October 1, 1992
Familial adult-onset muscular dystrophy with leukoencephalopathy
B G van Engelen, Q H Leyten, P L Bernsen, et al.
Neurology
|
May 5, 1999
Sjögren-Larsson syndrome: clinical and MRI/MRS findings in FALDH-deficient patients
P H van Domburg, M A Willemsen, J J Rotteveel, et al.
Neurology
|
September 22, 2010
3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy
S B Wortmann, B H Kremer, A Graham, et al.
American Journal of Human Genetics
|
June 5, 2001
Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene
A I den Hollander, J R Heckenlively, L I van den Born, et al.
American Journal of Human Genetics
|
September 16, 1999
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes
S Annunen, J Körkkö, M Czarny, et al.
Page
of 9