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Ambrosini, Enrico
136  results:
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1

Phenotypic Description of A Patient with ODLURO Syndrome an..:

Benvenuto, Mario ; Cesarini, Sofia ; Severi, Giulia...
Genes.  15 (2024)  4 - p. 430 , 2024
Link: https://doi.org/10.3390/..
 
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2

Mosaic derivative chromosomes at chorionic villi (CV) sampl..:

Vitetta, Giulia ; Desiderio, Laura ; Baccolini, Ilaria...
Molecular Cytogenetics.  17 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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3

Pure Parkinsonism as Possible Phenotype Expansion of THAP1‐..:

Ambrosini, Enrico ; Cancilla, Rita ; Paul, Jefri Jeya...
Movement Disorders.  39 (2024)  6 - p. 1072-1074 , 2024
Link: https://doi.org/10.1002/..
 
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4

Phenotypic Expansion of Autosomal Dominant LZTR1-Related Di..:

Uliana, Vera ; Ambrosini, Enrico ; Taiani, Antonietta...
Genes.  15 (2024)  7 - p. 916 , 2024
Link: https://doi.org/10.3390/..
 
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5

Charcot–Marie–Tooth Disease with Myelin Protein Zero Mutati..:

Gemignani, Franco ; Percesepe, Antonio ; Gualandi, Francesca...
International Journal of Molecular Sciences.  25 (2024)  3 - p. 1654 , 2024
Link: https://doi.org/10.3390/..
 
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6

A case series of non-small cell lung cancer patients with E..:

Cognigni, Valeria ; Capelletto, Enrica ; Bordi, Paola...
Tumori Journal.  , 2024
Link: https://doi.org/10.1177/..
 
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7

Genetic Basis of Breast and Ovarian Cancer: Approaches and ..:

Barili, Valeria ; Ambrosini, Enrico ; Bortesi, Beatrice...
Genes.  15 (2024)  2 - p. 219 , 2024
Link: https://doi.org/10.3390/..
 
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8

Reassessment of the NF1 variants of unknown significance fo..:

Martorana, Davide ; Barili, Valeria ; Uliana, Vera...
European Journal of Medical Genetics.  66 (2023)  11 - p. 104847 , 2023
Link: https://doi.org/10.1016/..
 
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9

Success and Pitfalls of Genetic Testing in Undiagnosed Dise..:

Barili, Valeria ; Ambrosini, Enrico ; Uliana, Vera...
Genes.  14 (2023)  6 - p. 1241 , 2023
Link: https://doi.org/10.3390/..
 
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10

Modifiers of Autosomal Dominant Polycystic Kidney Disease S..:

Ambrosini, Enrico ; Montanari, Francesca ; Cristalli, Carlotta Pia...
Genes.  14 (2023)  6 - p. 1230 , 2023
Link: https://doi.org/10.3390/..
 
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11

Deletion of 4q13.2q21.1 chromosome and autism spectrum diso..:

Posar, Annio ; Visconti, Paola ; Magini, Pamela...
Journal of Pediatric Neurosciences.  17 (2022)  2 - p. 131-134 , 2022
Link: https://doi.org/10.4103/..
 
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12

Salvage total thyroidectomy for amiodarone-induced thyrotox..:

Cappellani, Daniele ; Torregrossa, Liborio ; Papini, Piermarco...
Endocrine.  76 (2022)  2 - p. 495-498 , 2022
Link: https://doi.org/10.1007/..
 
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13

Gene Panel Analysis in a Large Cohort of Patients With Auto..:

Mantovani, Vilma ; Bin, Sofia ; Graziano, Claudio...
Frontiers in Genetics.  11 (2020)  - p. , 2020
Link: https://doi.org/10.3389/..
 
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14

Epilepsy with eyelid myoclonias and Sotos syndrome features..:

Mastrangelo, Vincenzo ; Minardi, Raffaella ; Baroni, Maria Chiara...
Seizure.  83 (2020)  - p. 169-171 , 2020
Link: https://doi.org/10.1016/..
 
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15

Surgeon-performed transcutaneous laryngeal ultrasound for v..:

Rossi, Leonardo ; Papini, Piermarco ; De Palma, Andrea...
Langenbeck's Archives of Surgery.  409 (2024)  1 - p. , 2024
Link: https://doi.org/10.1007/..
 
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