about
Molecular analysis of the SGLT2 gene in patients with renal glucosuriaThe mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndromeThe Danish 22q11 research initiativeOPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondriaA revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency.Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings.Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future.Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2.Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversionClinical and biochemical monitoring of patients with fatty acid oxidation disorders.Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.
P50
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P50
description
onderzoeker
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name
Flemming Skovby
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Flemming Skovby
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Flemming Skovby
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Flemming Skovby
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type
label
Flemming Skovby
@ast
Flemming Skovby
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Flemming Skovby
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Flemming Skovby
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prefLabel
Flemming Skovby
@ast
Flemming Skovby
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Flemming Skovby
@es
Flemming Skovby
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P106
P21
P31
P569
2000-01-01T00:00:00Z