E-LIB Suche - Ergebnisse für: Pizzuti, Antonio

1

Neurodevelopmental outcome of a child with UPD(16)mat: A ca..:

Novelli, Maria ; Mammarella, Valeria ; Calandriello, Francesca...
Global Pediatrics. 9 (2024) - p. 100179 , 2024

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

2

Small RNAs and tooth development: The role of microRNAs in ..:

Giovannetti, Agnese ; Guarnieri, Rosanna ; Petrizzelli, Francesco...
Journal of Dental Sciences. , 2024

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

3

Prenatal Genome-Wide Sequencing analysis (Exome or Genome) ..:

Marchionni, Enrica ; Guadagnolo, Daniele ; Mastromoro, Gioia.
European Journal of Human Genetics. 32 (2024) 7 - p. 759-769 , 2024

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

4

Long QTc in hypertrophic cardiomyopathy: A consequence of s..:

Cava, Francesco ; Micolonghi, Caterina ; Musumeci, Maria Beatrice...
Frontiers in Cardiovascular Medicine. 10 (2023) - p. , 2023

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

5

Hyperechogenic fetal bowel: Current evidence‐based prenatal..:

Vena, Flaminia ; Mazza, Alessandra ; Bartolone, Martina...
Journal of Clinical Ultrasound. 51 (2023) 7 - p. 1172-1178 , 2023

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

6

PrenatalCFAP53-related laterality defect: case report and r..:

Mastromoro, Gioia ; Guadagnolo, Daniele ; Novelli, Antonio...
The Journal of Maternal-Fetal & Neonatal Medicine. 36 (2023) 1 - p. , 2023

Link: https://doi.org/10.1080/..

7

A Novel Nonsense Pathogenic TTN Variant Identified in a Pat..:

Micolonghi, Caterina ; Fabiani, Marco ; Pagannone, Erika...
Current Issues in Molecular Biology. 45 (2023) 3 - p. 2422-2430 , 2023

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

8

Heterozygous Pathogenic Nonsense Variant in the ATM Gene in..:

Guadagnolo, Daniele ; Mastromoro, Gioia ; Marchionni, Enrica...
Biomedicines. 11 (2023) 7 - p. 2062 , 2023

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

9

Clinical variability in DYNC2H1-related skeletal ciliopathi..:

Piceci-Sparascio, Francesca ; Micale, Lucia ; Torres, Barbara...
European Journal of Human Genetics. 31 (2023) 4 - p. 479-484 , 2023

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

10

The role of genetic testing in suspected fulminant myocardi..:

Mistrulli, Raffaella ; Micolonghi, Caterina ; Follesa, Federico...
Molecular Genetics and Metabolism Reports. 37 (2023) - p. 101000 , 2023

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

11

Mosaic genome‐wide paternal uniparental disomy after discor..:

Mastromoro, Gioia ; Guadagnolo, Daniele ; Marchionni, Enrica...
American Journal of Medical Genetics Part A. 191 (2023) 4 - p. 1101-1106 , 2023

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

12

Additional lesions identified by genomic microarrays are as..:

Rigolin, Gian Matteo ; Traversa, Alice ; Caputo, Viviana...
British Journal of Haematology. 202 (2023) 5 - p. 953-959 , 2023

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

13

Duplication at 19q13.32q13.33 Segregating with Neuropsychia..:

Guadagnolo, Daniele ; Mastromoro, Gioia ; Torres, Barbara...
Genes. 14 (2023) 12 - p. 2157 , 2023

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

14

Critical prenatal diagnosis and management of incidental ex..:

Mastromoro, Gioia ; Guadagnolo, Daniele ; Marchionni, Enrica...
European Journal of Obstetrics & Gynecology and Reproductive Biology. 272 (2022) - p. 251-252 , 2022

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

15

A New SMAD4 Splice Site Variant in a Three-Generation Itali..:

Micolonghi, Caterina ; Piane, Maria ; Germani, Aldo...
Diagnostics. 12 (2022) 11 - p. 2684 , 2022

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