Mutations in the iduronate-2-sulfatase gene in 12 Spanish patients with Hunter disease

Multi O- and S-isotopes as tracers of black crusts formation under volcanic and non-volcanic atmospheric conditions in Sicily (Italy).

The Science of the total environment·2020

An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations.

Molecular genetics and metabolism reports·2020

A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities.

Scientific reports·2017

Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux-Lamy Syndrome.

JIMD reports·2016

Characterisation of CIME, an experimental chamber for simulating interactions between materials of the cultural heritage and the environment.

Environmental science and pollution research international·2015

Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.

Molecular genetics and metabolism·2014

Integrated Approach to Diagnosing Limb-Girdle Muscular Dystrophies in Resource-Limited Settings.

Human mutation·2026

Genotype-Phenotype Relationships in Patients Carrying Biallelic FDXR Pathogenic Variants-New Cases and Systematic Review.

Human mutation·2026

A De Novo Arg649Trp Variant in GluA2 Impairs Its Assembly With GluA1: Associated With Epilepsy and Neurodevelopmental Disorders.

Human mutation·2026

Novel Strategy for Structural Variant Genotyping by Short-Read Genomic Sequencing From Restriction-Circles: Experimental and Bioinformatics Proof-of-Concept.

Human mutation·2026

Expanding the Molecular Data of DICER1-Related Tumor Predisposition: Novel Germline Variants in an Argentine Pediatric Cohort.

Human mutation·2026

Genetic Analysis and Reproductive Intervention in a Duchenne Muscular Dystrophy Family With Cryptic Complex Chromosomal Rearrangement Identified by Structural Variation Sequencing.

Human mutation·2026

Caregiver's perspectives toward genome sequencing in children with neurodevelopmental disorders: Integrating genomic information into pediatric care.

Current problems in pediatric and adolescent health care·2026

Father and son with a pathogenic variant c.614dup p.(Gln206Thrfs*20) in the NR5A1 gene: a case report.

Frontiers in pediatrics·2026

Pediatric Spinal Cord Astrocytoma With Granular Cell-Like Morphology and KIAA1549::BRAF Fusion.

Neuropathology : official journal of the Japanese Society of Neuropathology·2026

KCTD1 p.Gly62Asp Variant in Scalp-Ear-Nipple Syndrome: Phenotypic and Structural Insights.

The Journal of craniofacial surgery·2026

Selective vulnerability and resilience of thalamic neuronal populations in Frontotemporal Dementia.

Research square·2026

Schizophrenia-associated polygenic liability and structural genomic risk demonstrate broadly distributed neuropsychiatric associations in the All of Us Research Program.

medRxiv : the preprint server for health sciences·2026

Related Experiment Videos

Mutations in the iduronate-2-sulfatase gene in 12 Spanish patients with Hunter disease

Related Concept Videos

Multi O- and S-isotopes as tracers of black crusts formation under volcanic and non-volcanic atmospheric conditions in Sicily (Italy).

An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations.

A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities.

Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux-Lamy Syndrome.

Characterisation of CIME, an experimental chamber for simulating interactions between materials of the cultural heritage and the environment.

Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.

Integrated Approach to Diagnosing Limb-Girdle Muscular Dystrophies in Resource-Limited Settings.

Genotype-Phenotype Relationships in Patients Carrying Biallelic FDXR Pathogenic Variants-New Cases and Systematic Review.

A De Novo Arg649Trp Variant in GluA2 Impairs Its Assembly With GluA1: Associated With Epilepsy and Neurodevelopmental Disorders.

Novel Strategy for Structural Variant Genotyping by Short-Read Genomic Sequencing From Restriction-Circles: Experimental and Bioinformatics Proof-of-Concept.

Expanding the Molecular Data of DICER1-Related Tumor Predisposition: Novel Germline Variants in an Argentine Pediatric Cohort.

Genetic Analysis and Reproductive Intervention in a Duchenne Muscular Dystrophy Family With Cryptic Complex Chromosomal Rearrangement Identified by Structural Variation Sequencing.

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Father and son with a pathogenic variant c.614dup p.(Gln206Thrfs*20) in the NR5A1 gene: a case report.

Pediatric Spinal Cord Astrocytoma With Granular Cell-Like Morphology and KIAA1549::BRAF Fusion.

KCTD1 p.Gly62Asp Variant in Scalp-Ear-Nipple Syndrome: Phenotypic and Structural Insights.

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Related Experiment Videos

Mutations in the iduronate-2-sulfatase gene in 12 Spanish patients with Hunter disease

Related Concept Videos

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