Male triplets concordant for X-linked recessive nonsyndromic hypoparathyroidism

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

Initial CPAP of 5 versus 8 cmH2O during delivery room stabilisation of very preterm infants: the PHILODENDROOM pilot randomised trial.

European journal of pediatrics·2026

Development and evaluation of a German Paediatric Trigger Tool (PAED-TT-GER) for detecting adverse events in hospitalized children.

European journal of pediatrics·2026

Gross motor function, functional level, physical performance, and muscle strength in preschool children newly diagnosed with cancer: Data from the RePlay trial.

European journal of pediatrics·2026

A narrative review of sudden infant death syndrome: pathophysiology, risk factors, and prevention.

European journal of pediatrics·2026

Aplasia cutis congenita with fetus papyraceus (Frieden classification Type V)-systematic review of literature and reported cases from 1990 to 2025 with a proposed revised diagnostic criteria and management algorithm.

European journal of pediatrics·2026

Extracriteria manifestations in Kawasaki disease: coronary threat or diagnostic pitfall?

European journal of pediatrics·2026

Spent Coffee Ground-Derived Carbon Dots as Redox-Modulating Biomaterials for Astrocytic Differentiation of Human Neural Progenitor Cells.

ACS applied materials & interfaces·2026

Sodium Diclofenac-Loaded Drug Delivery Microspheres: Impact on Calcium Hydroxide Paste Properties and Biological Response.

Australian endodontic journal : the journal of the Australian Society of Endodontology Inc·2026

Denuded peptidoglycan oligosaccharides enable the biochemical investigation of bacterial cell wall recognition, modification, and degradation.

The Journal of biological chemistry·2026

Chromogranin A Mediates Glucocorticoid-Induced Enhancement of Vesicular Dopamine Storage and Secretion in PC12 Cells.

The Journal of biological chemistry·2026

Polystyrene nanoplastics perturb cell membranes and induce bystander uptake of diverse cargos.

Journal of hazardous materials·2026

Anion-Exchange Membrane Chromatography for the Separation of Empty and Full Adeno-Associated Viral Capsids.

Biotechnology journal·2026

Related Experiment Videos

Male triplets concordant for X-linked recessive nonsyndromic hypoparathyroidism

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).

Initial CPAP of 5 versus 8 cmH2O during delivery room stabilisation of very preterm infants: the PHILODENDROOM pilot randomised trial.

Development and evaluation of a German Paediatric Trigger Tool (PAED-TT-GER) for detecting adverse events in hospitalized children.

Gross motor function, functional level, physical performance, and muscle strength in preschool children newly diagnosed with cancer: Data from the RePlay trial.

A narrative review of sudden infant death syndrome: pathophysiology, risk factors, and prevention.

Aplasia cutis congenita with fetus papyraceus (Frieden classification Type V)-systematic review of literature and reported cases from 1990 to 2025 with a proposed revised diagnostic criteria and management algorithm.

Extracriteria manifestations in Kawasaki disease: coronary threat or diagnostic pitfall?

Spent Coffee Ground-Derived Carbon Dots as Redox-Modulating Biomaterials for Astrocytic Differentiation of Human Neural Progenitor Cells.

Sodium Diclofenac-Loaded Drug Delivery Microspheres: Impact on Calcium Hydroxide Paste Properties and Biological Response.

Denuded peptidoglycan oligosaccharides enable the biochemical investigation of bacterial cell wall recognition, modification, and degradation.

Chromogranin A Mediates Glucocorticoid-Induced Enhancement of Vesicular Dopamine Storage and Secretion in PC12 Cells.

Polystyrene nanoplastics perturb cell membranes and induce bystander uptake of diverse cargos.

Anion-Exchange Membrane Chromatography for the Separation of Empty and Full Adeno-Associated Viral Capsids.

Related Experiment Videos

Male triplets concordant for X-linked recessive nonsyndromic hypoparathyroidism

Related Concept Videos

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