E-LIB Suche - Ergebnisse für: Antona, Vincenzo

1

Carnitine palmitoyltransferase II (CPT II) deficiency respo..:

Serra, Gregorio ; Antona, Vincenzo ; Insinga, Vincenzo...
Italian Journal of Pediatrics. 50 (2024) 1 - p. , 2024

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

2

NFIA haploinsufficiency: case series and literature review:

Dini, Gianluca ; Verrotti, Alberto ; Gorello, Paolo...
Frontiers in Pediatrics. 11 (2023) - p. , 2023

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

3

New insights on partial trisomy 3q syndrome: de novo 3q27.1..:

Serra, Gregorio ; Antona, Vincenzo ; Cimador, Marcello...
Italian Journal of Pediatrics. 49 (2023) 1 - p. , 2023

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

4

Follow-Up to Ensure Continuity of Care and Support Preventi..:

, In: Frailty in Children,

Ferrante, Giuliana ; Antona, Vincenzo ; Giuffrè, Mario... - p. 243-253 , 2023

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

5

Pulmonary arteriovenous malformation as a cause of exercise..:

Comparato, Calogero ; Sanfilippo, Maria Fiorella ; Antona, Vincenzo...
Paediatrica Indonesiana. 63 (2023) 3 - p. 208-12 , 2023

Link: https://doi.org/10.14238..

6

Muscle Histopathological Abnormalities in a Patient With a ..:

Scalia, Federica ; Barone, Rosario ; Rappa, Francesca...
Frontiers in Molecular Biosciences. 9 (2022) - p. , 2022

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

7

Cardio-facio-cutaneous syndrome and gastrointestinal defect..:

Serra, Gregorio ; Felice, Sofia ; Antona, Vincenzo...
Italian Journal of Pediatrics. 48 (2022) 1 - p. , 2022

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

8

Recurrent missense variant in the nuclear export signal of ..:

Mangano, Giuseppe Donato ; Fontana, Antonina ; Salpietro, Vincenzo...
European Journal of Medical Genetics. 65 (2022) 3 - p. 104441 , 2022

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

9

A complex epileptic and dysmorphic phenotype associated wit..:

Mangano, Giuseppe Donato ; Antona, Vincenzo ; Calì, Elisa...
Seizure. 97 (2022) - p. 20-22 , 2022

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

10

Intestinal malrotation in a female newborn affected by Oste..:

Serra, Gregorio ; Antona, Vincenzo ; Di Pace, Maria Rita...
Italian Journal of Pediatrics. 48 (2022) 1 - p. , 2022

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

11

Distal Arthrogryposis type 5 in an Italian family due to an..:

Serra, Gregorio ; Antona, Vincenzo ; Cannata, Chiara...
Italian Journal of Pediatrics. 48 (2022) 1 - p. , 2022

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

12

Commonalities and distinctions between two neurodevelopment..:

Mangano, Giuseppe Donato ; Fontana, Antonina ; Antona, Vincenzo...
Molecular Genetics & Genomic Medicine. 10 (2022) 5 - p. , 2022

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

13

A novel NF1 mutation in a pediatric patient with renal arte..:

Chillura, Ilenia ; Restivo, Giulia Angela ; Callari, Simonetta...
Italian Journal of Pediatrics. 48 (2022) 1 - p. , 2022

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

14

Congenital hypopituitarism and multiple midline defects in ..:

Serra, Gregorio ; Giambrone, Clara ; Antona, Vincenzo...
Italian Journal of Pediatrics. 48 (2022) 1 - p. , 2022

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

15

Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 ..:

Serra, Gregorio ; Antona, Vincenzo ; Giuffrè, Mario...
Italian Journal of Pediatrics. 48 (2022) 1 - p. , 2022

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