Daniela Melis
Baronissi, 84081, Italy
Last Updated: 09/26/2026
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Found 95 publications
Post-Infectious Bronchiolitis Obliterans as a Model of Immune-Mediated Airway Fibrosis: A Pediatric Case Report.
Journal: International journal of molecular sciences
Published: January 14, 2026
Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 01, 2025
Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 01, 2025
Multiomics approach provides insight into altered choline metabolism and liver injury in patients with glycogen storage disease type Ia.
Journal: Scientific reports
Published: March 26, 2025
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline.
Journal: American journal of human genetics
Published: June 07, 2024
A specific serum lipid signature characterizes patients with glycogen storage disease type Ia.
Journal: Journal of lipid research
Published: June 06, 2024
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 03, 2024
Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care.
Journal: Reviews in endocrine & metabolic disorders
Published: March 23, 2024
Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet).
Journal: Journal of clinical immunology
Published: December 12, 2023
The role of unidentified bright objects in the neurocognitive profile of neurofibromatosis type 1 children: a volumetric MRI analysis.
Journal: Acta neurologica Belgica
Published: May 25, 2023
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development.
Journal: Cancers
Published: November 22, 2022
Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants.
Journal: European journal of human genetics : EJHG
Published: November 21, 2022
Last Updated: 09/26/2026