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Year | Number of Results |
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2021 | 2 |
2023 | 2 |
2024 | 2 |
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Page 1
Identification of a Novel FOXP1 Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech Impairment.
Genes (Basel). 2023 Oct 18;14(10):1958. doi: 10.3390/genes14101958.
Genes (Basel). 2023.
PMID: 37895307
Free PMC article.
Human leukocyte antigen variants associate with BNT162b2 mRNA vaccine response.
Esposito M, Minnai F, Copetti M, Miscio G, Perna R, Piepoli A, De Vincentis G, Benvenuto M, D'Addetta P, Croci S, Baldassarri M, Bruttini M, Fallerini C, Brugnoni R, Cavalcante P, Baggi F, Corsini EMG, Ciusani E, Andreetta F, Dragani TA, Fratelli M, Carella M, Mantegazza RE, Renieri A, Colombo F.
Esposito M, et al. Among authors: benvenuto m.
Commun Med (Lond). 2024 Apr 4;4(1):63. doi: 10.1038/s43856-024-00490-2.
Commun Med (Lond). 2024.
PMID: 38575714
Free PMC article.
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Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder.
Di Muro E, Palumbo P, Benvenuto M, Accadia M, Di Giacomo MC, Manieri S, Abate R, Tagliente M, Castellana S, Mazza T, Carella M, Palumbo O.
Di Muro E, et al. Among authors: benvenuto m.
Genes (Basel). 2021 Jul 23;12(8):1116. doi: 10.3390/genes12081116.
Genes (Basel). 2021.
PMID: 34440290
Free PMC article.
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Association of CSF and PET markers of neurodegeneration with electroclinical progression in Lafora disease.
d'Orsi G, Farolfi A, Muccioli L, Palumbo O, Palumbo P, Modoni S, Allegri V, Garibotto V, Di Claudio MT, Di Muro E, Benvenuto M, Bisulli F, Carella M.
d'Orsi G, et al. Among authors: benvenuto m.
Front Neurol. 2023 Jun 28;14:1202971. doi: 10.3389/fneur.2023.1202971. eCollection 2023.
Front Neurol. 2023.
PMID: 37448753
Free PMC article.
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Whole Exome Sequencing Reveals a Novel AUTS2 In-Frame Deletion in a Boy with Global Developmental Delay, Absent Speech, Dysmorphic Features, and Cerebral Anomalies.
Palumbo P, Di Muro E, Accadia M, Benvenuto M, Di Giacomo MC, Castellana S, Mazza T, Castori M, Palumbo O, Carella M.
Palumbo P, et al. Among authors: benvenuto m.
Genes (Basel). 2021 Feb 5;12(2):229. doi: 10.3390/genes12020229.
Genes (Basel). 2021.
PMID: 33562463
Free PMC article.
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Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene.
Benvenuto M, Cesarini S, Severi G, Ambrosini E, Russo A, Seri M, Palumbo P, Palumbo O, Castori M, Panza E, Carella M.
Benvenuto M, et al.
Genes (Basel). 2024 Mar 29;15(4):430. doi: 10.3390/genes15040430.
Genes (Basel). 2024.
PMID: 38674365
Free PMC article.
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