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C

Carmine Spampanato

universita della campania vanvitelli
H指数:15
被引数:2,711

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Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking
The American Journal of Human Genetics
IF0
2026-02-040
PRE
Pilar Chacon-Millan; Antonella Delicato; Arif Mahmood; Alfonsina Tirozzi; Jlenia Monfregola; Karine Duroure; Malo Serafini; François Kroll; Océane El-hage; Somaya Salah; Osama M. Atawneh; Tahir Atik; Enise Avcı Durmusalioglu; Esra Isik; Naif A.M. Almontashiri; Brahim Tabarki; Moien Kanaan; Grace Rabie; Annalaura Torella; Carmine Spampanato
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes
NEUROLOGY-GENETICS
IF3.7
2025-12-011
PRE
Di Letto, Pasquale; De Leonibus, Chiara; Palmieri, Francesca Pia; Zanobio, Mariateresa; Scarpato, Margherita; Cetrangolo, Viviana; Rahman, Sarah Iffat; Selicorni, Angelo; Mariani, Milena; D'Arrigo, Stefano; Ciaccio, Claudia; Milani, Donatella; Ajmone, Paola Francesca; Morleo, Manuela; Spampanato, Carmine; Piluso, Giulio; Zollino, Marcella; L'Erario, Federica Francesca; Greco, Donatella; Capra, Valeria; Scala, Marcello; Romano, Ferruccio; Terrone, Gaetano; De Falco, Alessandro; Paolella, Chiara; Mastrangelo, Mario; Ricciardi, Giacomina; Brunetti-Pierri, Nicola; Nigro, Vincenzo; Torella, Annalaura

研究方向

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A
Andrea Ballabio
H 指数:120论文数:595被引数:7.5万
A
Alessandro Fraldi
H 指数:27论文数:55被引数:1.4万
F
Fabio Annunziata
H 指数:9论文数:12被引数:1,695
D
Diego L. Medina
H 指数:41论文数:121被引数:2.3万
R
Roman Polishchuk
H 指数:61论文数:177被引数:1.5万
N
Nicolina Cristina Sorrentino
H 指数:15论文数:33被引数:883
A
Alessia Lombardi
H 指数:15论文数:25被引数:1,012
C
Carmine Settembre
H 指数:48论文数:93被引数:2.7万
R
Rosa Puertollano
H 指数:56论文数:167被引数:2.5万
E
Edoardo Nusco
H 指数:26论文数:96被引数:2,458