Primary hypomagnesaemia, an X-borne allele?

Infantile systemic hyalinosis: a fatal disorder commonly diagnosed among Arabs.

Clinical and experimental rheumatology·2005

A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13.

Clinical genetics·2005

Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene.

Molecular genetics and metabolism·2004

The locus responsible for horizontal gaze palsy/progressive scoliosis and brainstem hypoplasia is refined to a 9-cM region on chromosome 11q23.

Clinical genetics·2004

A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar.

Acta paediatrica (Oslo, Norway : 1992)·2003

Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome).

Clinical genetics·2002

1-month versus 12-month dual antithrombotic therapy after percutaneous coronary intervention in patients with atrial fibrillation (OPTIMA-AF): a multicentre, open-label, hybrid non-inferiority and superiority, randomised, controlled trial.

Lancet (London, England)·2026

Multidomain lifestyle intervention for the prevention of cognitive decline in at-risk older adults in Latin America (LatAm-FINGERS): a single-blind, multicentre, randomised controlled trial.

Lancet (London, England)·2026

Advancing the relevance of clinical trials for older patients.

Lancet (London, England)·2026

Temocillin versus carbapenems for bacteraemia due to third-generation cephalosporin-resistant Enterobacterales in Spain (ASTARTÉ): a multicentre, phase 3, open-label, non-inferiority, randomised clinical trial.

Lancet (London, England)·2026

Fixed-duration pirtobrutinib plus venetoclax-rituximab versus venetoclax-rituximab for patients with previously treated chronic lymphocytic leukaemia or small lymphocytic lymphoma (BRUIN CLL-322): an open-label, multicentre, randomised, controlled, phase 3 trial.

Lancet (London, England)·2026

Children in all policies: lessons from a global collaboration to promote the health and wellbeing of children and future generations.

Lancet (London, England)·2026

Coordination-Site-Engineered Hydrophilic Ln-MOFs for Ultrasensitive Ratiometric Sensing of Trace H<sub>2</sub>O in D<sub>2</sub>O.

Inorganic chemistry·2026

Advected carbon younger than the sediment fuels microbial metabolism in a pumped deep aquifer.

Communications earth & environment·2026

Study on the purification mechanisms of black and odorous water bodies using hydroxyapatite prepared from construction waste putty powder.

Journal of environmental science and health. Part A, Toxic/hazardous substances & environmental engineering·2026

Are Ahr2 variant Atlantic tomcod from the Hudson River cross-resistant to toxicity from polycyclic aromatic hydrocarbons?

Aquatic toxicology (Amsterdam, Netherlands)·2026

CIMS Detection of Hydroxymethyl Hydroperoxide: Insights into Alkene Ozonolysis in a Variety of Environments.

ACS ES&T air·2026

Impact of River Morphology on River-Groundwater Exchange in Braided River Systems.

Ground water·2026

Related Experiment Videos

Primary hypomagnesaemia, an X-borne allele?

Related Concept Videos

Infantile systemic hyalinosis: a fatal disorder commonly diagnosed among Arabs.

A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13.

Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene.

The locus responsible for horizontal gaze palsy/progressive scoliosis and brainstem hypoplasia is refined to a 9-cM region on chromosome 11q23.

A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar.

Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome).

1-month versus 12-month dual antithrombotic therapy after percutaneous coronary intervention in patients with atrial fibrillation (OPTIMA-AF): a multicentre, open-label, hybrid non-inferiority and superiority, randomised, controlled trial.

Multidomain lifestyle intervention for the prevention of cognitive decline in at-risk older adults in Latin America (LatAm-FINGERS): a single-blind, multicentre, randomised controlled trial.

Advancing the relevance of clinical trials for older patients.

Temocillin versus carbapenems for bacteraemia due to third-generation cephalosporin-resistant Enterobacterales in Spain (ASTARTÉ): a multicentre, phase 3, open-label, non-inferiority, randomised clinical trial.

Fixed-duration pirtobrutinib plus venetoclax-rituximab versus venetoclax-rituximab for patients with previously treated chronic lymphocytic leukaemia or small lymphocytic lymphoma (BRUIN CLL-322): an open-label, multicentre, randomised, controlled, phase 3 trial.

Children in all policies: lessons from a global collaboration to promote the health and wellbeing of children and future generations.

Coordination-Site-Engineered Hydrophilic Ln-MOFs for Ultrasensitive Ratiometric Sensing of Trace H<sub>2</sub>O in D<sub>2</sub>O.

Advected carbon younger than the sediment fuels microbial metabolism in a pumped deep aquifer.

Study on the purification mechanisms of black and odorous water bodies using hydroxyapatite prepared from construction waste putty powder.

Are Ahr2 variant Atlantic tomcod from the Hudson River cross-resistant to toxicity from polycyclic aromatic hydrocarbons?

CIMS Detection of Hydroxymethyl Hydroperoxide: Insights into Alkene Ozonolysis in a Variety of Environments.

Impact of River Morphology on River-Groundwater Exchange in Braided River Systems.

Related Experiment Videos

Primary hypomagnesaemia, an X-borne allele?

Related Concept Videos

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