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Errichiello, Edoardo
79
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Online (79)
Mediatypes
Articles (Online) (38)
OpenAccess-fulltext (41)
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1
Novel molecular, structural and clinical findings in an Ita..:
Lecca, Mauro
;
Mauri, Lucia
;
Gana, Simone
...
Clinical Genetics. , 2024
Link:
https://doi.org/10.1111/..
?
2
Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramp..:
Prato, Adriana
;
Cirnigliaro, Lara
;
Maugeri, Federica
...
Journal of Clinical Medicine. 13 (2024) 4 - p. 1109 , 2024
Link:
https://doi.org/10.3390/..
?
3
Commentary on "Craniofacial Syndromes and class III phenoty..:
Lecca, Mauro
;
Scribante, Andrea
;
Errichiello, Edoardo
Pediatric Research. 95 (2024) 6 - p. 1412-1414 , 2024
Link:
https://doi.org/10.1038/..
?
4
Further evidence supporting the role of GTDC1 in glycine me..:
Errichiello, Edoardo
;
Lecca, Mauro
;
Vantaggiato, Chiara
...
European Journal of Human Genetics. , 2024
Link:
https://doi.org/10.1038/..
?
5
Case Report: Decrypting an interchromosomal insertion assoc..:
Bonaglia, Maria Clara
;
Salvo, Eliana
;
Sironi, Manuela
...
Frontiers in Genetics. 14 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
?
6
A novel variant in NEUROD2 in a patient with Rett-like phen..:
POLITANO, Davide
;
GANA, Simone
;
PEZZOTTI, Elena
...
Brain and Development. 45 (2023) 3 - p. 179-184 , 2023
Link:
https://doi.org/10.1016/..
?
7
Identification of bi‐allelic LFNG variants in three patient..:
Lecca, Mauro
;
Bedeschi, Maria Francesca
;
Izzi, Claudia
...
Clinical Genetics. 104 (2023) 2 - p. 230-237 , 2023
Link:
https://doi.org/10.1111/..
?
8
Distribution of Exonic Variants in Glycogen Synthesis and C..:
De Filippi, Paola
;
Errichiello, Edoardo
;
Toscano, Antonio
...
Current Issues in Molecular Biology. 45 (2023) 4 - p. 2847-2860 , 2023
Link:
https://doi.org/10.3390/..
?
9
SCN2A and arrhythmia: A potential correlation? A case repor..:
Tzialla, Chryssoula
;
Arossa, Alessia
;
Mannarino, Savina
...
European Journal of Medical Genetics. 65 (2022) 12 - p. 104639 , 2022
Link:
https://doi.org/10.1016/..
?
10
Low penetrance COL5A1 variants in a young patient with intr..:
Errichiello, Edoardo
;
Malara, Alessandro
;
Grimod, Gianluca
...
European Journal of Medical Genetics. 64 (2021) 1 - p. 104099 , 2021
Link:
https://doi.org/10.1016/..
?
11
Transcutaneous electrical stimulation therapy and genetic a..:
Caretto, Amelia
;
Errichiello, Edoardo
;
Patricelli, Maria Grazia
...
Medicine. 100 (2021) 51 - p. e28360 , 2021
Link:
https://doi.org/10.1097/..
?
12
Histologic heterogeneity and syndromic associations of non-..:
Carbone, Riccardo
;
Rovedatti, Laura
;
Lenti, Marco Vincenzo
...
Digestive and Liver Disease. 53 (2021) 12 - p. 1647-1654 , 2021
Link:
https://doi.org/10.1016/..
?
13
FANCA, TP53, and del(5q)/RPS14 alterations in a patient wit..:
Errichiello, Edoardo
;
Mina, Tommaso
;
Morbini, Patrizia
..
Cancer Genetics. 256-257 (2021) - p. 179-183 , 2021
Link:
https://doi.org/10.1016/..
?
14
Characterization of a novel loss-of-function variant in TDP..:
Errichiello, Edoardo
;
Zagnoli-Vieira, Guido
;
Rizzi, Romana
...
Journal of Human Genetics. 65 (2020) 12 - p. 1135-1141 , 2020
Link:
https://doi.org/10.1038/..
?
15
An additional piece in the TBX6 gene dosage model: A novel ..:
Errichiello, Edoardo
;
Arossa, Alessia
;
Iasci, Angela
...
Clinical Genetics. 98 (2020) 6 - p. 628-629 , 2020
Link:
https://doi.org/10.1111/..
1-15