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

Preventing otitis media and respiratory tract infections with the oral probiotic Streptococcus salivarius K12.

European journal of pediatrics·2026

Trends in opioid-, alcohol-, and drug-related mortality among US children aged 0-4 years: an analysis of the CDC WONDER Database trends, 1999-2023.

European journal of pediatrics·2026

Autoimmune and lymphoproliferative outcomes after Kawasaki disease: a 20-year population-based cohort study.

European journal of pediatrics·2026

Complete blood count-derived inflammatory biomarkers and neonatal cholestasis in preterm infants: a matched case-control study.

European journal of pediatrics·2026

Infective endocarditis in the pediatric population: A single-center retrospective study of outcomes and predictors.

European journal of pediatrics·2026

A large national cohort study exploring the association between small for gestational age birthweight and educational achievement in secondary school.

European journal of pediatrics·2026

Tribochemically Driven Carbon Release Lubrication in Zr-Incorporated (Ti,Nb)2AlC via Selective M─C Bond Cleavage.

Small (Weinheim an der Bergstrasse, Germany)·2026

An injectable kappa-carrageenan/konjac-glucomannan microgel platform for localized and controlled release of doxorubicin-loaded biomimetic nanoparticles.

Carbohydrate polymers·2026

Preferential solvation drives polysaccharide conformation and viscoelasticity.

Carbohydrate polymers·2026

Cellulose-based gel electrolytes: A systematic review on preparation, structure-property relationships and applications.

International journal of biological macromolecules·2026

Colloidally stable rice protein-carboxymethyl cellulose complexes tailoring high-protein liquids.

Food chemistry·2026

Carboxymethyl glucuronoxylan /PVA/nano ZnO composite films for blueberry preservation: The effects of nano-ZnO on the packaging properties of the composite films.

Food chemistry·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).

Preventing otitis media and respiratory tract infections with the oral probiotic Streptococcus salivarius K12.

Trends in opioid-, alcohol-, and drug-related mortality among US children aged 0-4 years: an analysis of the CDC WONDER Database trends, 1999-2023.

Autoimmune and lymphoproliferative outcomes after Kawasaki disease: a 20-year population-based cohort study.

Complete blood count-derived inflammatory biomarkers and neonatal cholestasis in preterm infants: a matched case-control study.

Infective endocarditis in the pediatric population: A single-center retrospective study of outcomes and predictors.

A large national cohort study exploring the association between small for gestational age birthweight and educational achievement in secondary school.

Tribochemically Driven Carbon Release Lubrication in Zr-Incorporated (Ti,Nb)2AlC via Selective M─C Bond Cleavage.

An injectable kappa-carrageenan/konjac-glucomannan microgel platform for localized and controlled release of doxorubicin-loaded biomimetic nanoparticles.

Preferential solvation drives polysaccharide conformation and viscoelasticity.

Cellulose-based gel electrolytes: A systematic review on preparation, structure-property relationships and applications.

Colloidally stable rice protein-carboxymethyl cellulose complexes tailoring high-protein liquids.

Carboxymethyl glucuronoxylan /PVA/nano ZnO composite films for blueberry preservation: The effects of nano-ZnO on the packaging properties of the composite films.

Related Experiment Videos

Male triplets concordant for X-linked recessive nonsyndromic hypoparathyroidism

Related Concept Videos

Related Articles