The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade
Simona Cardaropoli, Lisa Pavinato, Slavica Trajkova, Diana Carli et autres
0 citationsHuman Genetics
Paola Salmin
Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.
9Publications signalées
99Citations signalées
0Affiliations récentes
Domaines associés
Pancreatitis Pathology and TreatmentAutism Spectrum Disorder ResearchNeuroendocrine Tumor Research AdvancesGenetics and Neurodevelopmental DisordersPancreatic and Hepatic Oncology Research
Publications récentes
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes
Chiara Giovenino, Slavica Trajkova, Lisa Pavinato, Simona Cardaropoli et autres
30 citationsEuropean Journal of Human Genetics
Skewed X-chromosome Inactivation in Unsolved Neurodevelopmental Disease Cases Can Guide Re-evaluation for X-linked Genes
Alfredo Brusco, Chiara Giovenino, Slavica Trajkova, Lisa Pavinato et autres
1 citationResearch Square
Spinocerebellar Ataxia Tethering PCR
Claudia Cagnoli, Alessandro Brussino, Cecilia Mancini, Marina Ferrone et autres
22 citationsJournal of Molecular Diagnostics
The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome
Arianna Tucci, Luisa Ronzoni, Carlo Arduino, Paola Salmin et autres
6 citationsBMC Medical Genetics
P.152 ANALYSIS OF CFTR, SPINK1 AND PRSS1 MUTATIONS IN ITALIAN PATIENTS WITH CHRONIC PANCREATITIS
Paola Salacone, L. Crocellà, Carlo Arduino, Antonella Maffé et autres
1 citationDigestive and Liver Disease
Association of a new cationic trypsinogen gene mutation (V39A) with chronic pancreatitis in an Italian family: Figure 1
Carlo Arduino, Paola Salacone, Barbara Pasini, Alfredo Brusco et autres
12 citationsGut
Fcγ receptor IIA genotype and susceptibility to P. aeruginosa infection in patients with cystic fibrosis
Virginia De Rose, Carlo Arduino, N Cappello, Rita Piana et autres
27 citationsEuropean Journal of Human Genetics
4 P Mutations of PSTI and CFTR genes in patients with pancreatitis
Paola Salacone, Martina Gallo, Gianni Gerbino Promis, Paola Salmin et autres
0 citationsDigestive and Liver Disease
BNTIC News n’est pas le producteur de ces données. Recherche à la demande dans Crossref et Europe PMC, sans clé ; OpenAlex reste optionnel. Aucun service payant requis, aucune réponse conservée. Sources et limites.