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The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
|
July 31, 1998
Location and distribution of epithelial pearls and tooth buds in human fetuses with cleft lip and palate
W H Arnold, T Rezwani, I Baric
Journal of Inherited Metabolic Disease
|
December 22, 1999
Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I
I Baric, L Wagner, P Feyh, et al.
Croatian Medical Journal
|
May 12, 1998
Partial trisomy 13 in an infant with a mild phenotype: application of fluorescence in situ hybridization in cytogenetic syndromes
D Begovic, V Hitrec, R Lasan, et al.
Neuropediatrics
|
June 10, 2005
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). Report of a new case
S Mercimek-Mahmutoglu, M S van der Knaap, I Baric, et al.
Journal of Inherited Metabolic Disease
|
November 8, 2003
Stereoselective analysis of 2-hydroxysebacic acid in urine of patients with Zellweger syndrome and of premature infants fed with medium-chain triglycerides
A Muth, A Mosandl, R J A Wanders, et al.
Journal of Inherited Metabolic Disease
|
May 20, 2005
OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria
K Neas, B Bennetts, K Carpenter, et al.
Neuropediatrics
|
November 5, 2003
Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen
S Kölker, G F Hoffmann, D S M Schor, et al.
Clinical Genetics
|
November 25, 2016
Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II
L Dvorakova, H Vlaskova, A Sarajlija, et al.
Human Mutation
|
January 1, 1997
Frequency of RET mutations in long- and short-segment Hirschsprung disease
M Seri, L Yin, V Barone, et al.
Human Molecular Genetics
|
September 5, 2001
The mutational spectrum of human malignant autosomal recessive osteopetrosis
C Sobacchi, A Frattini, P Orchard, et al.
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of 1
Search research articles
Search
Showing results (1-10 of 10) with videos related to
Sort By:
Page
of 1
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
|
July 31, 1998
Location and distribution of epithelial pearls and tooth buds in human fetuses with cleft lip and palate
W H Arnold, T Rezwani, I Baric
Journal of Inherited Metabolic Disease
|
December 22, 1999
Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I
I Baric, L Wagner, P Feyh, et al.
Croatian Medical Journal
|
May 12, 1998
Partial trisomy 13 in an infant with a mild phenotype: application of fluorescence in situ hybridization in cytogenetic syndromes
D Begovic, V Hitrec, R Lasan, et al.
Neuropediatrics
|
June 10, 2005
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). Report of a new case
S Mercimek-Mahmutoglu, M S van der Knaap, I Baric, et al.
Journal of Inherited Metabolic Disease
|
November 8, 2003
Stereoselective analysis of 2-hydroxysebacic acid in urine of patients with Zellweger syndrome and of premature infants fed with medium-chain triglycerides
A Muth, A Mosandl, R J A Wanders, et al.
Journal of Inherited Metabolic Disease
|
May 20, 2005
OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria
K Neas, B Bennetts, K Carpenter, et al.
Neuropediatrics
|
November 5, 2003
Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen
S Kölker, G F Hoffmann, D S M Schor, et al.
Clinical Genetics
|
November 25, 2016
Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II
L Dvorakova, H Vlaskova, A Sarajlija, et al.
Human Mutation
|
January 1, 1997
Frequency of RET mutations in long- and short-segment Hirschsprung disease
M Seri, L Yin, V Barone, et al.
Human Molecular Genetics
|
September 5, 2001
The mutational spectrum of human malignant autosomal recessive osteopetrosis
C Sobacchi, A Frattini, P Orchard, et al.
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of 1