Lista de obras - Flemming Skovby - Dominio Público Uruguay

3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings

artículo científico publicado en 2002

A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency

artículo científico publicado en 2010

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

artículo científico publicado en 2005

Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency

artículo científico publicado en 2003

Clinical and biochemical monitoring of patients with fatty acid oxidation disorders

artículo científico publicado en 2010

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome

artículo científico publicado en 2015

Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity

artículo científico publicado en 2012

Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion

artículo científico publicado en 2007

Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes

artículo científico publicado en 2013

First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future

artículo científico publicado en 2005

Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2 ⬇️

artículo científico publicado el 10 de octubre de 2012

High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations

artículo científico publicado en 2002

Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.

artículo científico publicado en 2011

Molecular Analysis of the SGLT2 Gene in Patients with Renal Glucosuria ⬇️

artículo científico publicado el 1 de noviembre de 2003

Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities

artículo científico publicado en 2017

OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria

artículo científico publicado en 2010

The Danish 22q11 research initiative

artículo científico publicado en 2015

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity

artículo científico publicado en 2008

The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome

artículo científico publicado en 2002

Lista de obras de Flemming Skovby

3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings

A revisit to the natural history of homocystinuria due to cystathionine beta-synthase 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

Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency

Clinical and biochemical monitoring of patients with fatty acid oxidation disorders

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome

Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity

Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion

Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes

First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future

Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2 ⬇️

High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations

Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.

Molecular Analysis of the SGLT2 Gene in Patients with Renal Glucosuria ⬇️

Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities

OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria

The Danish 22q11 research initiative

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity

The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome