E-LIB Suche - Ergebnisse für: Iascone, Maria

1

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/..

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/..

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/..

4

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/..

5

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/..

6

Cortical Myoclonus and Complex Paroxysmal Dyskinesias in a ..:

Freri, Elena ; Canafoglia, Laura ; Ciaccio, Claudia...
Movement Disorders. , 2024

Link: https://doi.org/10.1002/..

7

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/..

8

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/..

9

Early onset epileptic and developmental encephalopathy and ..:

Teutonico, Federica ; Volpe, Clara ; Proto, Alice...
neurogenetics. , 2024

Link: https://doi.org/10.1007/..

10

Newborn screening for X-linked adrenoleukodystrophy in Ital..:

Bonaventura, Eleonora ; Alberti, Luisella ; Lucchi, Simona...
Frontiers in Neurology. 13 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

11

A clustering of heterozygous missense variants in the cruci..:

Snijders Blok, Lot ; Verseput, Jolijn ; Rots, Dmitrijs...
Human Genetics and Genomics Advances. 4 (2023) 1 - p. 100157 , 2023

Link: https://doi.org/10.1016/..

12

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/..

13

De novo variants in CNOT9 cause a neurodevelopmental disord..:

von Wintzingerode, Lydia ; Ben-Zeev, Bruria ; Cesario, Claudia...
Genetics in Medicine. 25 (2023) 7 - p. 100859 , 2023

Link: https://doi.org/10.1016/..

14

Comparison of first‐tier whole‐exome sequencing with a mult..:

Rosina, Erica ; Pezzani, Lidia ; Apuril, Erika...
Molecular Genetics & Genomic Medicine. 12 (2023) 1 - p. , 2023

Link: https://doi.org/10.1002/..

15

Chung–Jansen syndrome can mimic Cornelia de Lange syndrome:..:

Conti, Beatrice ; Rinaldi, Berardo ; Rimoldi, Martina...
American Journal of Medical Genetics Part A. 191 (2023) 6 - p. 1586-1592 , 2023

Link: https://doi.org/10.1002/..