E-LIB Suche - Ergebnisse für: Zollino, Marcella

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

Blepharophimosis with intellectual disability and Helsmoort..:

Sarli, Camilla ; van der Laan, Liselot ; Reilly, Jack...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. , 2024

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

3

Specifications and validation of the ACMG/AMP criteria for ..:

Leone, Maria Pia ; Morlino, Silvia ; Nardella, Grazia...
Human Genetics. 142 (2023) 6 - p. 785-808 , 2023

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

4

The HFE p.H63D (p.His63Asp) Polymorphism Is a Modifier of A..:

Canosa, Antonio ; Calvo, Andrea ; Mora, Gabriele...
Biomedicines. 11 (2023) 3 - p. 704 , 2023

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

5

Evaluating the contribution of the gene TARDBP in Italian p..:

Lattante, Serena ; Sabatelli, Mario ; Bisogni, Giulia...
European Journal of Neurology. 30 (2023) 5 - p. 1246-1255 , 2023

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

6

Pyridoxine supplementation in PACS2-related encephalopathy:..:

Perulli, Marco ; Picilli, Maria ; Contaldo, Ilaria...
Seizure: European Journal of Epilepsy. 105 (2023) - p. 14-16 , 2023

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

7

CHAMP1-related disorders: pathomechanisms triggered by diff..:

Amenta, Simona ; Marangi, Giuseppe ; Orteschi, Daniela...
European Journal of Human Genetics. 31 (2023) 6 - p. 648-653 , 2023

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

8

Investigating the "Fetal Side" in Recurrent Pregnancy Loss:..:

D'Ippolito, Silvia ; Longo, Giuliana ; Orteschi, Daniela...
Journal of Clinical Medicine. 12 (2023) 12 - p. 3898 , 2023

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

9

Pathogenic variants in SOX11 mimicking Pitt‐Hopkins syndrom..:

Pasquetti, Domizia ; L'Erario, Federica Francesca ; Marangi, Giuseppe...
Clinical Genetics. 105 (2023) 1 - p. 81-86 , 2023

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

10

ATP2B2 de novo variants as a cause of variable neurodevelop..:

Poggio, Elena ; Barazzuol, Lucia ; Salmaso, Andrea...
Genetics in Medicine. 25 (2023) 12 - p. 100971 , 2023

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

11

Linear Diagnostic Procedure Elicited by Clinical Genetics a..:

Pasquetti, Domizia ; Marangi, Giuseppe ; Orteschi, Daniela...
Genes. 14 (2023) 2 - p. 245 , 2023

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

12

De novo missense variants in phosphatidylinositol kinase PI..:

Morleo, Manuela ; Venditti, Rossella ; Theodorou, Evangelos...
The American Journal of Human Genetics. 110 (2023) 8 - p. 1377-1393 , 2023

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

13

Behavioral profiling in children and adolescents with Malan..:

Alfieri, Paolo ; Montanaro, Federica Alice Maria ; Macchiaiolo, Marina...
Frontiers in Child and Adolescent Psychiatry. 2 (2023) - p. , 2023

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

14

Smith Magenis syndrome: First case of congenital heart defe..:

Onesimo, Roberta ; Delogu, Angelica Bibiana ; Blandino, Rita...
American Journal of Medical Genetics Part A. 188 (2022) 7 - p. 2184-2186 , 2022

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

15

Generation of an induced pluripotent stem cell line (UCSCi0..:

Martello, Francesco ; Lattante, Serena ; Doronzio, Paolo Niccolò...
Stem Cell Research. 62 (2022) - p. 102825 , 2022

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