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Zollino, Marcella
246
results:
Search for persons
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Online (246)
Mediatypes
Articles (Online) (130)
OpenAccess-fulltext (116)
Languages
english (237)
spanish (1)
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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/..
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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/..
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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/..
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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/..
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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/..
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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/..
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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/..
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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/..
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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/..
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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/..
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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/..
1-15