E-LIB Suche - Ergebnisse für: Melis, Daniela

1

Endocrine involvement in hepatic glycogen storage diseases:..:

Rossi, Alessandro ; Simeoli, Chiara ; Pivonello, Rosario...
Reviews in Endocrine and Metabolic Disorders. , 2024

Link: https://doi.org/10.1007/..

2

Immunological Aspects of Kabuki Syndrome: A Retrospective M..:

Rossini, Linda ; Ricci, Silvia ; Montin, Davide...
Journal of Clinical Immunology. 44 (2024) 5 - p. , 2024

Link: https://doi.org/10.1007/..

3

The role of unidentified bright objects in the neurocogniti..:

Di Stasi, Martina ; Cocozza, Sirio ; Buccino, Sara...
Acta Neurologica Belgica. 124 (2023) 1 - p. 223-230 , 2023

Link: https://doi.org/10.1007/..

4

Mitochondrial reprogramming in peripheral blood mononuclear..:

Rossi, Alessandro ; Assunto, Antonia ; Rosano, Carmen...
Genes & Nutrition. 18 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

5

Performance Metrics of the Scoring System for the Diagnosis..:

Luca, Maria ; Carli, Diana ; Cardaropoli, Simona...
Cancers. 15 (2023) 3 - p. 773 , 2023

Link: https://doi.org/10.3390/..

6

FOXI3 pathogenic variants cause one form of craniofacial mi..:

Mao, Ke ; Borel, Christelle ; Ansar, Muhammad...
Nature Communications. 14 (2023) 1 - p. , 2023

Link: https://doi.org/10.1038/..

7

Clinical profiling of MRD48 and functional characterization..:

Priolo, Manuela ; Zara, Erika ; Radio, Francesca Clementina...
European Journal of Human Genetics. 31 (2023) 7 - p. 805-814 , 2023

Link: https://doi.org/10.1038/..

8

Severe impact of late diagnosis of congenital adrenal hyper..:

Simeoli, Chiara ; de Angelis, Cristina ; Delli Veneri, Alessandra...
Frontiers in Genetics. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

9

Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2..:

Pepe, Angela ; Valitutti, Francesco ; Veneruso, Deborah...
Italian Journal of Pediatrics. 48 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

10

Search for biomarkers and prognostic indicators of liver de..:

Resaz, Roberta ; Cangelosi, Davide ; Segalerba, Daniela...
Journal of Hepatology. 77 (2022) - p. S515 , 2022

Link: https://doi.org/10.1016/..

11

DNA methylation episignature testing improves molecular dia..:

Kerkhof, Jennifer ; Squeo, Gabriella Maria ; McConkey, Haley...
Genetics in Medicine. 24 (2022) 1 - p. 51-60 , 2022

Link: https://doi.org/10.1016/..

12

Bone metabolism in patients with type 1 neurofibromatosis: ..:

Ferrara, Ursula Pia ; Tortora, Cristina ; Rosano, Carmen...
Scientific Reports. 12 (2022) 1 - p. , 2022

Link: https://doi.org/10.1038/..

13

Clinical and molecular characterization of patients affecte..:

Carli, Diana ; Operti, Matteo ; Russo, Silvia...
Clinical Genetics. 102 (2022) 4 - p. 314-323 , 2022

Link: https://doi.org/10.1111/..

14

Clinical and molecular characterization of patients with Be..:

Carli, Diana ; Spina, Jennifer ; Russo, Silvia...
Molecular Genetics and Metabolism. 132 (2021) - p. S66 , 2021

Link: https://doi.org/10.1016/..

15

Clinical heterogeneity of Kabuki syndrome in a cohort of It..:

Di Candia, Francesca ; Fontana, Paolo ; Paglia, Pamela...
European Journal of Pediatrics. 181 (2021) 1 - p. 171-187 , 2021

Link: https://doi.org/10.1007/..