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Iascone, Maria
263  results:
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1

Early onset epileptic and developmental encephalopathy and ..:

Teutonico, Federica ; Volpe, Clara ; Proto, Alice...
Neurogenetics.  25 (2024)  3 - p. 281-286 , 2024
Link: https://doi.org/10.1007/..
 
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2

Long-read sequencing reveals chromothripsis in a molecularl..:

Bestetti, Ilaria ; Crippa, Milena ; Sironi, Alessandra...
Frontiers in Genetics.  15 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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3

ALDH18A1‐related hereditary spastic paraplegia and developm..:

Ferrara, Giusi ; Cutillo, Gianni ; Peterlongo, Irene...
Annals of the Child Neurology Society.  2 (2024)  1 - p. 73-78 , 2024
Link: https://doi.org/10.1002/..
 
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4

Early occurrence of photic-reflex myoclonus in CDKL5-defici..:

Caputo, Davide ; Franceschetti, Silvana ; Canafoglia, Laura...
Clinical Neurophysiology.  163 (2024)  - p. 37-38 , 2024
Link: https://doi.org/10.1016/..
 
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5

Multidisciplinary follow-up in a patient with Morgagni hern..:

Capecchi, Ester ; Villa, Roberta ; Pini, Alessandro...
Italian Journal of Pediatrics.  50 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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6

The spectrum of heart defects in theTRAF7-related multiple ..:

Pisan, Elise ; De Luca, Chiara ; Brancati, Francesco...
Proceedings of the National Academy of Sciences.  121 (2024)  12 - p. , 2024
Link: https://doi.org/10.1073/..
 
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7

Corrigendum: Newborn screening for X-linked adrenoleukodyst..:

Bonaventura, Eleonora ; Alberti, Luisella ; Lucchi, Simona...
Frontiers in Neurology.  15 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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8

The Phenotype-Based Approach Can Solve Cold Cases: The Para..:

Marchetti, Giulia Bruna ; Milani, Donatella ; Pisciotta, Livia...
Genes.  15 (2024)  6 - p. 654 , 2024
Link: https://doi.org/10.3390/..
 
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9

Cortical Myoclonus and Complex Paroxysmal Dyskinesias in a ..:

Freri, Elena ; Canafoglia, Laura ; Ciaccio, Claudia...
Movement Disorders.  39 (2024)  7 - p. 1238-1240 , 2024
Link: https://doi.org/10.1002/..
 
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10

Delineation of a KDM2B-related neurodevelopmental disorder ..:

van Jaarsveld, Richard H. ; Reilly, Jack ; Cornips, Marie-Claire...
Genetics in Medicine.  25 (2023)  1 - p. 49-62 , 2023
Link: https://doi.org/10.1016/..
 
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11

Clinical presentation of calmodulin mutations: the Internat..:

Crotti, Lia ; Spazzolini, Carla ; Nyegaard, Mette...
European Heart Journal.  44 (2023)  35 - p. 3357-3370 , 2023
Link: https://doi.org/10.1093/..
 
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12

Menkes disease complicated by concurrent ACY1 deficiency: A..:

Mauri, Alessia ; Saielli, Laura Assunta ; Alfei, Enrico...
Frontiers in Genetics.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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13

Prenatal Clinical Findings in RASA1-Related Capillary Malfo..:

Coccia, Emanuele ; Valeri, Lara ; Zuntini, Roberta...
Genes.  14 (2023)  3 - p. 549 , 2023
Link: https://doi.org/10.3390/..
 
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14

Case report: Early-onset parkinsonism among the neurologica..:

Previtali, Roberto ; Leidi, Alessia ; Basso, Martina...
Frontiers in Neurology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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15

ARF1-related disorder: phenotypic and molecular spectrum:

de Sainte Agathe, Jean-Madeleine ; Pode-Shakked, Ben ; Naudion, Sophie...
Journal of Medical Genetics.  60 (2023)  10 - p. 999-1005 , 2023
Link: https://doi.org/10.1136/..
 
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