E-LIB Suche - Ergebnisse für: Lepri, Francesca Romana

1

Father-to-daughter transmission in late-onset OTC deficienc..:

Siri, Barbara ; Olivieri, Giorgia ; Lepri, Francesca Romana...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024

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

2

A novel mutation in GAS8 gene associated with chronic rhino..:

Artesani, Maria Cristina ; Santarsiero, Sara ; Sitzia, Emanuela...
Frontiers in Pediatrics. 12 (2024) - p. , 2024

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

3

Loss-of-function variants in ERF are associated with a Noon..:

Dentici, Maria Lisa ; Niceta, Marcello ; Lepri, Francesca Romana...
European Journal of Human Genetics. , 2024

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

4

Case report: Long term response to growth hormone in a chil..:

Ventresca, Silvia ; Lepri, Francesca Romana ; Criscuolo, Sabrina...
Frontiers in Endocrinology. 15 (2024) - p. , 2024

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

5

Case report: Neonatal-onset inflammatory bowel disease due ..:

Finocchi, Andrea ; Pacillo, Lucia ; Chiriaco, Maria...
Frontiers in Genetics. 14 (2023) - p. , 2023

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

6

Prenatal Clinical Findings in RASA1-Related Capillary Malfo..:

Coccia, Emanuele ; Valeri, Lara ; Zuntini, Roberta...
Genes. 14 (2023) 3 - p. 549 , 2023

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

7

The Expanding Phenotype of ZTTK Syndrome Due to the Heteroz..:

Pietrobattista, Andrea ; Della Volpe, Luca ; Francalanci, Paola...
Genes. 14 (2023) 3 - p. 739 , 2023

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

8

Deep Intronic LINE-1 Insertions in NF1: Expanding the Spect..:

Alesi, Viola ; Genovese, Silvia ; Lepri, Francesca Romana...
Biomolecules. 13 (2023) 5 - p. 725 , 2023

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

9

Hypoglycaemia Metabolic Gene Panel Testing:

Maiorana, Arianna ; Lepri, Francesca Romana ; Novelli, Antonio.
Frontiers in Endocrinology. 13 (2022) - p. , 2022

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

10

Combined isobutyryl‐CoA and multiple acyl‐CoA dehydrogenase..:

Tummolo, Albina ; Leone, Piero ; Tolomeo, Maria...
JIMD Reports. 63 (2022) 4 - p. 276-291 , 2022

Link: https://doi.org/10.1002/..

11

The diagnostic challenge of mild citrulline elevation at ne..:

Siri, Barbara ; Olivieri, Giorgia ; Angeloni, Antonio...
Molecular Genetics and Metabolism. 135 (2022) 4 - p. 327-332 , 2022

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

12

Successful treatment withMEK‐inhibitor in a patient withNRA..:

Carli, Diana ; Cardaropoli, Simona ; Tessaris, Daniele...
Genes, Chromosomes and Cancer. 61 (2022) 12 - p. 740-746 , 2022

Link: https://doi.org/10.1002/..

13

High Incidence of Partial Biotinidase Deficiency in the Fir..:

Semeraro, Daniela ; Verrocchio, Sara ; Di Dalmazi, Giulia...
International Journal of Environmental Research and Public Health. 19 (2022) 13 - p. 8141 , 2022

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

14

Intragenic inversions in NF1 gene as pathogenic mechanism i..:

Alesi, Viola ; Lepri, Francesca Romana ; Dentici, Maria Lisa...
European Journal of Human Genetics. 30 (2022) 11 - p. 1239-1243 , 2022

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

15

Clinical delineation, sex differences, and genotype–phenoty..:

Faundes, Víctor ; Goh, Stephanie ; Akilapa, Rhoda...
Genetics in Medicine. 23 (2021) 7 - p. 1202-1210 , 2021

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