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Errichiello, Edoardo
79  results:
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1

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/..
 
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2

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/..
 
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3

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/..
 
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4

Novel molecular, structural and clinical findings in an Ita..:

Lecca, Mauro ; Mauri, Lucia ; Gana, Simone...
Clinical Genetics.  , 2024
Link: https://doi.org/10.1111/..
 
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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/..
 
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6

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/..
 
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7

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/..
 
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8

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/..
 
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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/..
 
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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/..
 
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11

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/..
 
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12

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/..
 
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13

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/..
 
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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/..
 
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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/..
 
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