E-LIB Suche - Ergebnisse für: Madia, Francesca

1

Etiological involvement of KCND1 variants in an X-linked ne..:

Kalm, Tassja ; Schob, Claudia ; Völler, Hanna...
The American Journal of Human Genetics. 111 (2024) 6 - p. 1206-1221 , 2024

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

2

Truncating variants in PAPSS2 gene: A cause of early prenat..:

Biancotto, Giulia ; Rosti, Giulia ; Madia, Francesca...
Prenatal Diagnosis. , 2024

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

3

Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric..:

Ognibene, Marzia ; Scala, Marcello ; Iacomino, Michele...
Cancers. 15 (2023) 6 - p. 1916 , 2023

Link: https://doi.org/10.3390/..

4

MYT1L variant inherited by a mosaic father in a case of sev..:

Boeri, Silvia ; Scala, Marcello ; Madia, Francesca...
Epileptic Disorders. 25 (2023) 6 - p. 874-879 , 2023

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

5

Case Report: Novel biallelic moderately damaging variants i..:

Romano, Ferruccio ; Amadori, Elisabetta ; Madia, Francesca...
Frontiers in Pediatrics. 11 (2023) - p. , 2023

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

6

Copy Number Variations in Children with Tourette Syndrome: ..:

Saia, Federica ; Prato, Adriana ; Saccuzzo, Lucia...
Genes. 14 (2023) 2 - p. 500 , 2023

Link: https://doi.org/10.3390/..

7

Somatic Double Inactivation of NF1 Associated with NF1-Rela..:

Chelleri, Cristina ; Scala, Marcello ; De Marco, Patrizia...
Human Mutation. 2023 (2023) - p. 1-7 , 2023

Link: https://doi.org/10.1155/..

8

A Phenotypic-Driven Approach for the Diagnosis of WOREE Syn..:

Riva, Antonella ; Nobile, Giulia ; Giacomini, Thea...
Frontiers in Pediatrics. 10 (2022) - p. , 2022

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

9

Diagnostic Approach to Macrocephaly in Children:

Accogli, Andrea ; Geraldo, Ana Filipa ; Piccolo, Gianluca...
Frontiers in Pediatrics. 9 (2022) - p. , 2022

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

10

Biallelic ZBTB11 variants associated with complex neuropsyc..:

Scala, Marcello ; De Grandis, Elisa ; Nobile, Giulia...
Brain. 146 (2022) 1 - p. e1-e4 , 2022

Link: https://doi.org/10.1093/..

11

De novo truncatingNOVA2variants affect alternative splicing..:

Scala, Marcello ; Drouot, Nathalie ; MacLennan, Suzanna C....
Human Mutation. 43 (2022) 9 - p. 1299-1313 , 2022

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

12

Paroxysmal limb dystonias associated with GABBR2 pathogenic..:

D'Onofrio, Gianluca ; Riva, Antonella ; Di Rosa, Gabriella...
Brain and Development. 44 (2022) 7 - p. 469-473 , 2022

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

13

Abnormal course of the corticospinal tracts in KIF5C-relate..:

Naim, Alessandro ; Accogli, Andrea ; Amadori, Elisabetta...
European Journal of Medical Genetics. 65 (2022) 11 - p. 104622 , 2022

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

14

Potential Role of miRNAs in the Acquisition of Chemoresista..:

Marengo, Barbara ; Pulliero, Alessandra ; Corrias, Maria Valeria...
Journal of Personalized Medicine. 11 (2021) 2 - p. 107 , 2021

Link: https://doi.org/10.3390/..

15

Genotype-Phenotype Correlations in Neurofibromatosis Type 1..:

Scala, Marcello ; Schiavetti, Irene ; Madia, Francesca...
Cancers. 13 (2021) 8 - p. 1879 , 2021

Link: https://doi.org/10.3390/..