[Mads Valdemar Madsen, December 14, 1902-January 15, 1976]

A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?

Human genome variation·2019

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.

Journal of inherited metabolic disease·2012

Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy.

Journal of medical genetics·2010

The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein.

Journal of medical genetics·2010

Identification of a novel locus for a USH3 like syndrome combined with congenital cataract.

Clinical genetics·2010

Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency.

Journal of inherited metabolic disease·2009

[Suture lateralisation of the vocal fold in a patient with bilateral vocal cord paralysis].

Ugeskrift for laeger·2026

[Nontoxigenic Vibrio cholerae O1 bacteraemia and cholangitis in a returning traveller from Sri Lanka].

Ugeskrift for laeger·2026

[Transcranial magnetic stimulation in non-psychiatric disorders].

Ugeskrift for laeger·2026

[Coronary artery calcium and cardiovascular prevention].

Ugeskrift for laeger·2026

[Advanced therapy medicinal products].

Ugeskrift for laeger·2026

[Giant panniculectomy].

Ugeskrift for laeger·2026

Kinetics and adsorption isotherm of cadmium and lead on waste- agricultural derived biochar and their stabilization in two different polluted soils.

Scientific reports·2026

The Sox2 regulatory region 42 produces enhancer RNAs that influence neuronal migration during cortical development.

iScience·2026

Sodasulphanecobalamin provides rapid cyanide detoxification and hemodynamic rescue in a rat model of acute cyanide poisoning.

Toxicology and applied pharmacology·2026

Quercetin modulates the aggregation behavior of bovine hemoglobin.

RSC advances·2026

Linear solvation energy relationship descriptors of organophosphorus chemical warfare agents.

Journal of hazardous materials·2026

Prediction of Relative Kinetic Solvent Effects for SN2 Reactions Using COSMO-RS.

The journal of physical chemistry. B·2026

Related Experiment Videos

[Mads Valdemar Madsen, December 14, 1902-January 15, 1976]

Related Concept Videos

A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.

Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy.

The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein.

Identification of a novel locus for a USH3 like syndrome combined with congenital cataract.

Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency.

[Suture lateralisation of the vocal fold in a patient with bilateral vocal cord paralysis].

[Nontoxigenic Vibrio cholerae O1 bacteraemia and cholangitis in a returning traveller from Sri Lanka].

[Transcranial magnetic stimulation in non-psychiatric disorders].

[Coronary artery calcium and cardiovascular prevention].

[Advanced therapy medicinal products].

[Giant panniculectomy].

Kinetics and adsorption isotherm of cadmium and lead on waste- agricultural derived biochar and their stabilization in two different polluted soils.

The Sox2 regulatory region 42 produces enhancer RNAs that influence neuronal migration during cortical development.

Sodasulphanecobalamin provides rapid cyanide detoxification and hemodynamic rescue in a rat model of acute cyanide poisoning.

Quercetin modulates the aggregation behavior of bovine hemoglobin.

Linear solvation energy relationship descriptors of organophosphorus chemical warfare agents.

Prediction of Relative Kinetic Solvent Effects for SN2 Reactions Using COSMO-RS.

Related Experiment Videos

[Mads Valdemar Madsen, December 14, 1902-January 15, 1976]

Related Concept Videos

Related Articles