E-LIB Suche - Ergebnisse für: D'Abrusco, Fulvio

1

Cerebellar Heterotopia: Broadening the Neuroradiological Sp..:

Carrara, Adelaide ; Mangiarotti, Camilla ; Pasca, Ludovica...
The Cerebellum. , 2024

2

Cerebellar heterotopia in an 11‐year‐old child with KDM6B‐r..:

Politano, Davide ; D'Abrusco, Fulvio ; Pasca, Ludovica...
American Journal of Medical Genetics Part A. 194 (2024) 6 - p. , 2024

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

3

Visual function in children with Joubert syndrome:

Morelli, Federica ; Toni, Federico ; Saligari, Elena...
Developmental Medicine & Child Neurology. 66 (2023) 3 - p. 379-388 , 2023

Link: https://doi.org/10.1111/..

4

Recurrent, founder and hypomorphic variants contribute to t..:

Serpieri, Valentina ; Mortarini, Giulia ; Loucks, Hailey...
Journal of Medical Genetics. 60 (2023) 9 - p. 885-893 , 2023

Link: https://doi.org/10.1136/..

5

Expanding the natural history of CASK‐related disorders to ..:

Gafner, Michal ; Boltshauser, Eugen ; D'Abrusco, Fulvio...
Developmental Medicine & Child Neurology. 65 (2022) 4 - p. 544-550 , 2022

Link: https://doi.org/10.1111/..

6

Superior Cerebellar Atrophy: An Imaging Clue to Diagnose IT..:

Romaniello, Romina ; Pasca, Ludovica ; Panzeri, Elena...
International Journal of Molecular Sciences. 23 (2022) 12 - p. 6723 , 2022

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

7

SUFU haploinsufficiency causes a recognisable neurodevelopm..:

Serpieri, Valentina ; D'Abrusco, Fulvio ; Dempsey, Jennifer C...
Journal of Medical Genetics. 59 (2021) 9 - p. 888-894 , 2021

Link: https://doi.org/10.1136/..

8

Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis U..:

D'Abrusco, Fulvio ; Arrigoni, Filippo ; Serpieri, Valentina...
The Cerebellum. 21 (2021) 6 - p. 1144-1150 , 2021

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

9

Recurrent, founder and hypomorphic variants contribute to t..:

Serpieri, Valentina ; Mortarini, Giulia ; Loucks, Hailey...
info:eu-repo/semantics/altIdentifier/pmid/36788019. , 2023

Link: https://hdl.handle.net/1..

10

Recurrent, founder and hypomorphic variants contribute to t..:

Serpieri, Valentina ; Mortarini, Giulia ; Loucks, Hailey...
0022-2593. , 2023

Link: https://resolver.sub.uni..

11

Recurrent, founder and hypomorphic variants contribute to t..:

Serpieri, Valentina ; Mortarini, Giulia ; Loucks, Hailey...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10447400/. , 2023

Link: http://www.ncbi.nlm.nih...

12

Recurrent, founder and hypomorphic variants contribute to s..:

Serpieri Valentina ; Mortarini Giulia ; Loucks Hailey...
doi:10.1136/jmg-2022-108725. , 2022

Link: https://zenodo.org/recor..

13

Expanding the natural history of CASK-related disorders to ..:

Gafner, Michal ; Boltshauser, Eugen ; D'Abrusco, Fulvio...
info:eu-repo/semantics/altIdentifier/pmid/36175354. , 2022

Link: https://hdl.handle.net/1..

14

SUFU haploinsufficiency causes a recognisable neurodevelopm..:

Serpieri, Valentina ; D'Abrusco, Fulvio ; Dempsey, Jennifer C...
info:eu-repo/semantics/altIdentifier/doi/10.1136/jmedgenet-2021-108114. , 2022

Link: https://archive-ouverte...

15

SUFU haploinsufficiency causes a recognisable neurodevelopm..:

Serpieri, Valentina ; D'Abrusco, Fulvio ; Dempsey, Jennifer C...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9411896/. , 2022

Link: http://www.ncbi.nlm.nih...