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X
D'Abrusco, Fulvio
13  Ergebnisse:
OpenAccess-Volltexte X
Personensuche X
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1

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..
 
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2

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

Serpieri, Valentina ; Mortarini, Giulia ; Loucks, Hailey...
0022-2593.  , 2023
Link: https://resolver.sub.uni..
 
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3

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...
 
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4

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..
 
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5

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..
 
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6

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...
 
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7

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...
 
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8

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

Romaniello, Romina ; Pasca, Ludovica ; Panzeri, Elena...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9223788/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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9

SUFU haploinsufficiency causes a recognisable neurodevelopm..:

Serpieri, Valentina ; D'Abrusco, Fulvio ; Dempsey, Jennifer C...
info:eu-repo/semantics/altIdentifier/pmid/34675124.  , 2021
Link: https://hdl.handle.net/1..
 
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10

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

Romina Romaniello ; Ludovica Pasca ; Elena Panzeri...
Molecular Neurobiology.  , 2022
Link: https://doi.org/10.3390/..
 
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11

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

Romina Romaniello ; Ludovica Pasca ; Elena Panzeri...
https://www.mdpi.com/1422-0067/23/12/6723.  , 2022
Link: https://doi.org/10.3390/..
 
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12

SUFU haploinsufficiency causes a recognisable neurodevelopm..:

Valentina Serpieri ; Fulvio D'Abrusco ; Jennifer C Dempsey...
info:eu-repo/semantics/altIdentifier/wos/WOS:000725017900001.  , 2021
Link: http://hdl.handle.net/11..
 
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13

Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis_d..:

Fulvio D'Abrusco ; Filippo Arrigoni ; Valentina Serpieri...
doi:10.1007/s12311-021-01350-8.  , 2021
Link: https://zenodo.org/recor..
 
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