E-LIB Suche - Ergebnisse für: Giglio, Sabrina

1

Antibody Deficiency in Patients with Biallelic KARS1 Mutati..:

Saettini, Francesco ; Guerra, Fabiola ; Fazio, Grazia...
Journal of Clinical Immunology. 43 (2023) 8 - p. 2115-2125 , 2023

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

2

A review of the main genetic factors influencing the course..:

Mocci, Stefano ; Littera, Roberto ; Chessa, Luchino...
Frontiers in Immunology. 14 (2023) - p. , 2023

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

3

Correction to: Antibody Deficiency in Patients with Biallel..:

Saettini, Francesco ; Guerra, Fabiola ; Fazio, Grazia...
Journal of Clinical Immunology. 43 (2023) 8 - p. 2126-2126 , 2023

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

4

SMARCE1-related meningiomas: A clear example of cancer pred..:

Fiorentini, Erika ; Giunti, Laura ; Di Rita, Andrea...
European Journal of Medical Genetics. 66 (2023) 7 - p. 104784 , 2023

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

5

Pregnancy outcome of confined placental mosaicism: meta-ana..:

Spinillo, Silvia L. ; Farina, Antonio ; Sotiriadis, Alexandros...
American Journal of Obstetrics and Gynecology. 227 (2022) 5 - p. 714-727.e1 , 2022

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

6

Integration of Hi-C with short and long-read genome sequenc..:

Schöpflin, Robert ; Melo, Uirá Souto ; Moeinzadeh, Hossein...
Nature Communications. 13 (2022) 1 - p. , 2022

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

7

A Protective HLA Extended Haplotype Outweighs the Major COV..:

Mocci, Stefano ; Littera, Roberto ; Tranquilli, Stefania...
Frontiers in Immunology. 13 (2022) - p. , 2022

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

8

STOP Pain Project—Opioid Response in Pediatric Cancer Patie..:

Crescioli, Giada ; Lombardi, Niccolò ; Vagnoli, Laura...
Pharmaceutics. 14 (2022) 3 - p. 619 , 2022

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

9

Variants Disrupting CD40L Transmembrane Domain and Atypical..:

Palterer, Boaz ; Salvati, Lorenzo ; Capone, Manuela...
Frontiers in Immunology. 13 (2022) - p. , 2022

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

10

Non-Invasive Detection of a De Novo Frameshift Variant of S..:

Provenzano, Aldesia ; La Barbera, Andrea ; Lai, Francesco...
Journal of Clinical Medicine. 11 (2022) 14 - p. 4182 , 2022

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

11

Leopard-like retinopathy and severe early-onset portal hype..:

Peluso, Francesca ; Palazzo, Viviana ; Indolfi, Giuseppe...
BMC Medical Genomics. 14 (2021) 1 - p. , 2021

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

12

A Novel Splicing Variant of COL2A1 in a Fetus with Achondro..:

Bruni, Valentina ; Spoleti, Cristina Barbara ; La Barbera, Andrea...
Genes. 12 (2021) 9 - p. 1395 , 2021

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

13

Differential Diagnosis between Marfan Syndrome and Loeys–Di..:

Nistri, Stefano ; De Cario, Rosina ; Sticchi, Elena...
Genes. 12 (2021) 10 - p. 1462 , 2021

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

14

PIK3CA-Related Overgrowth Spectrum From Diagnosis to Target..:

Pagliazzi, Angelica ; Oranges, Teresa ; Traficante, Giovanna...
Frontiers in Pediatrics. 9 (2021) - p. , 2021

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

15

Distal renal tubular acidosis: a systematic approach from d..:

Giglio, Sabrina ; Montini, Giovanni ; Trepiccione, Francesco..
Journal of Nephrology. 34 (2021) 6 - p. 2073-2083 , 2021

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