E-LIB Suche - Ergebnisse für: Roberta Zuntini

1

Identification of the DNA methylation signature of Mowat-Wi..:

Caraffi, Stefano Giuseppe ; van der Laan, Liselot ; Rooney, Kathleen...
European Journal of Human Genetics. 32 (2024) 6 - p. 619-629 , 2024

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

2

Developmental and epileptic encephalopathy in a young Itali..:

Rossi, Jessica ; Russo, Marco ; Gobbi, Giuseppe...
Brain and Development. 45 (2023) 8 - p. 445-450 , 2023

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

3

Characterization of BRCA Deficiency in Ovarian Cancer:

Barbero, Giovanna ; Zuntini, Roberta ; Magini, Pamela...
Cancers. 15 (2023) 5 - p. 1530 , 2023

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

4

Case Report: Sequential postzygotic HRAS mutation and gains..:

Zuntini, Roberta ; Cattani, Chiara ; Pedace, Lucia...
Frontiers in Genetics. 14 (2023) - p. , 2023

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

5

Case report: Expanding the phenotype of FOXP1-related intel..:

Cesaroni, Carlo Alberto ; Pollazzon, Marzia ; Mancini, Cecilia...
Frontiers in Neurology. 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

Deep phenotyping of the neuroimaging and skeletal features ..:

Peluso, Francesca ; Caraffi, Stefano G ; Contrò, Gianluca...
Journal of Medical Genetics. 60 (2023) 12 - p. 1224-1234 , 2023

Link: https://doi.org/10.1136/..

8

Gingival Overgrowths Revealing PTEN Hamartoma Tumor Syndrom..:

Sutera, Samuele ; Giachino, Daniela Francesca ; Pelle, Alessandra..
Biomedicines. 11 (2022) 1 - p. 81 , 2022

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

9

MCPH1: A Novel Case Report and a Review of the Literature:

Caraffi, Stefano Giuseppe ; Pollazzon, Marzia ; Farooq, Muhammad...
Genes. 13 (2022) 4 - p. 634 , 2022

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

10

ANKLE2‐related microcephaly: A variable microcephaly syndro..:

Thomas, Ajay X. ; Link, Nichole ; Robak, Laurie A....
Annals of Clinical and Translational Neurology. 9 (2022) 8 - p. 1276-1288 , 2022

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

11

Whole Exome Sequencing Is the Minimal Technological Approac..:

Peluso, Francesca ; Caraffi, Stefano Giuseppe ; Zuntini, Roberta...
Genes. 12 (2021) 7 - p. 962 , 2021

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

12

Colorectal polyposis as a clue to the diagnosis of Cowden s..:

Innella, Giovanni ; Miccoli, Sara ; Colussi, Dora...
Pathology - Research and Practice. 218 (2021) - p. 153339 , 2021

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

13

Detecting Variants in the NBN Gene While Testing for Heredi..:

Zuntini, Roberta ; Bonora, Elena ; Pradella, Laura Maria...
International Journal of Molecular Sciences. 22 (2021) 11 - p. 5832 , 2021

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

14

Posterior Lissencephaly Associated with Subcortical Band He..:

Contrò, Gianluca ; Micalizzi, Alessia ; Giangiobbe, Sara...
Genes. 12 (2021) 8 - p. 1208 , 2021

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

15

PTEN Hamartoma Tumor Syndrome: Skin Manifestations and Insi..:

Innella, Giovanni ; Bonora, Elena ; Neri, Iria...
Frontiers in Medicine. 8 (2021) - p. , 2021

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