Morten Duno

Centre De Référence De Pathologie Neuromusculaire Paris Est
Estonia

Last Updated: 09/26/2026

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Found 166 publications

Muscle involvement in women carrying pathogenic DMD gene variants: A 6.5-year follow-up study.

Muscle involvement in women carrying pathogenic DMD gene variants: A 6.5-year follow-up study.

Journal: Journal of neuromuscular diseases

Published: January 09, 2026

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature.

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature.

Journal: American journal of medical genetics. Part A

Published: October 23, 2025

Systematic Review on Genetic Variants in Children With Cerebral Palsy.

Systematic Review on Genetic Variants in Children With Cerebral Palsy.

Journal: Acta paediatrica (Oslo, Norway : 1992)

Published: September 15, 2025

Genetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution.

Genetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution.

Journal: European journal of human genetics : EJHG

Published: July 29, 2025

Diagnostic yield of whole exome sequencing in a cohort of 825 patients.

Diagnostic yield of whole exome sequencing in a cohort of 825 patients.

Journal: European journal of medical genetics

Published: April 30, 2025

Clinical and Genetic Reassessment in Patients With Clinically Diagnosed Hereditary Polyneuropathy.

Clinical and Genetic Reassessment in Patients With Clinically Diagnosed Hereditary Polyneuropathy.

Journal: European journal of neurology

Published: March 19, 2025

First Case of Primary Ciliary Dyskinesia in Greenland.

First Case of Primary Ciliary Dyskinesia in Greenland.

Journal: Pediatric pulmonology

Published: November 11, 2024

2-[18F] FDG PET/CT in Rapid Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report.

2-[18F] FDG PET/CT in Rapid Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report.

Journal: JIMD reports

Published: September 21, 2024

Mosaic STS gene deletions in chorionic villus samples are often confined to the placenta, and they differ in size from STS gene deletions in patients with X-linked Ichthyosis.

Mosaic STS gene deletions in chorionic villus samples are often confined to the placenta, and they differ in size from STS gene deletions in patients with X-linked Ichthyosis.

Journal: Placenta

Published: September 15, 2024

Genotype-Phenotype Correlation and Feminizing Surgery in Danish Children with Congenital Adrenal Hyperplasia.

Genotype-Phenotype Correlation and Feminizing Surgery in Danish Children with Congenital Adrenal Hyperplasia.

Journal: Hormone research in paediatrics

Published: July 30, 2024

Paracetamol and its metabolites in children and adults with spinal muscular atrophy - a population pharmacokinetic model.

Paracetamol and its metabolites in children and adults with spinal muscular atrophy - a population pharmacokinetic model.

Journal: British journal of clinical pharmacology

Published: July 22, 2024

Delineating the Psychiatric Morbidity Spectrum in Congenital Adrenal Hyperplasia: A Population-based Registry Study.

Delineating the Psychiatric Morbidity Spectrum in Congenital Adrenal Hyperplasia: A Population-based Registry Study.

Journal: The Journal of clinical endocrinology and metabolism

Published: June 14, 2024

Showing 1-12 of 166

Last Updated: 09/26/2026