SANGUINERI, FRANCESCA
 Distribuzione geografica
Continente #
EU - Europa 167
Totale 167
Nazione #
IT - Italia 167
Totale 167
Città #
Genoa 84
Vado Ligure 80
Bordighera 3
Totale 167
Nome #
ROLE OF MME IN LATE ONSET AXONAL CMT: ANALYSIS OF AN ITALIAN CMT2 COHORT 53
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation 25
Diagnosing Fabry nephropathy: the challenge of multiple kidney disease 23
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement 21
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers 21
Case report: Episodic ataxia without ataxia? 16
A PROPOSAL FOR IMPROVEMENT OF ACMG GUIDELINES FOR VARIANTS EVALUATION IN CHARCOT-MARIE-TOOTH DISEASE MOLECULAR DIAGNOSIS 13
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late‐onset axonal neuropathies 10
Totale 182
Categoria #
all - tutte 1.144
article - articoli 1.144
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 2.288


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/202491 0 0 2 23 5 10 6 7 7 10 4 17
2024/202591 6 10 6 27 21 21 0 0 0 0 0 0
Totale 182