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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.
Compound Phenotype Due to Recessive Variants in LARP7 and OTOG Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing.
Palumbo P, Palumbo O, Leone MP, di Muro E, Castellana S, Bisceglia L, Mazza T, Carella M, Castori M.
Palumbo P, et al. Among authors: di muro e.
Genes (Basel). 2020 Mar 31;11(4):379. doi: 10.3390/genes11040379.
Genes (Basel). 2020.
PMID: 32244554
Free PMC article.
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A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features.
Palumbo O, Palumbo P, Di Muro E, Cinque L, Petracca A, Carella M, Castori M.
Palumbo O, et al. Among authors: di muro e.
Genes (Basel). 2020 Jun 26;11(6):707. doi: 10.3390/genes11060707.
Genes (Basel). 2020.
PMID: 32604767
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: di muro e.
Genes (Basel). 2021 Feb 5;12(2):229. doi: 10.3390/genes12020229.
Genes (Basel). 2021.
PMID: 33562463
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.
Genes (Basel). 2021 Jul 23;12(8):1116. doi: 10.3390/genes12081116.
Genes (Basel). 2021.
PMID: 34440290
Free PMC article.
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The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate.
Leone MP, Palumbo P, Palumbo O, Di Muro E, Chetta M, Laforgia N, Resta N, Stella A, Castellana S, Mazza T, Castori M, Carella M, Bukvic N.
Leone MP, et al. Among authors: di muro e.
Ital J Pediatr. 2020 May 27;46(1):74. doi: 10.1186/s13052-020-00839-y.
Ital J Pediatr. 2020.
PMID: 32460883
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: di muro e.
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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