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1 . Academic Journal
Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome
저자
by
Cali, Francesco
;
Ragalmuto, Alda
;
Chiavetta, Valeria
;
Calabrese, Giuseppe
;
Fichera, Marco
, et al.
소스
Experimental & Molecular Medicine
. 42(12):842-848
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7 . Academic Journal
Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics
저자
by
Cali, Francesco
;
Ruggeri, Giuseppa
;
Vinci, Mirella
;
Meli, Concetta
;
Carducci, Carla
, et al.
소스
Experimental & Molecular Medicine
. 42(2):81-86
View Record (KoreaMed)
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7 . Academic Journal
A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy
저자
by
Vetri, Luigi
;
Calì, Francesco
;
Vinci, Mirella
;
Amato, Carmelo
;
Roccella, Michele
, et al.
소스
In
European Journal of Medical Genetics
April 2020 63(4)
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7 . Academic Journal
PLEKHG1 : New Potential Candidate Gene for Periventricular White Matter Abnormalities.
저자
by
Calì, Francesco
;
Vinci, Mirella
;
Treccarichi, Simone
;
Papa, Carla
;
Gloria, Angelo
, et al.
소스
Genes
. Aug2024, Vol. 15 Issue 8, p1096. 13p.
Web of Science
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7 . Academic Journal
Bioinformatic Evaluation of KLF13 Genetic Variant: Implications for Neurodevelopmental and Psychiatric Symptoms.
저자
by
Vinci, Mirella
;
Greco, Donatella
;
Treccarichi, Simone
;
Chiavetta, Valeria
;
Figura, Maria Grazia
, et al.
소스
Genes
. Aug2024, Vol. 15 Issue 8, p1056. 14p.
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7 . Academic Journal
Implications of a De Novo Variant in the SOX12 Gene in a Patient with Generalized Epilepsy, Intellectual Disability, and Childhood Emotional Behavioral Disorders.
저자
by
Treccarichi, Simone
;
Calì, Francesco
;
Vinci, Mirella
;
Ragalmuto, Alda
;
Musumeci, Antonino
, et al.
소스
Current Issues in Molecular Biology; Jul2024, Vol. 46 Issue 7, p6407-6422, 16p
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7 . Academic Journal
PPP2R5E: New gene potentially involved in specific learning disorders and myopathy
저자
by
Musumeci, Antonino
;
Vinci, Mirella
;
Verbinnen, Iris
;
Treccarichi, Simone
;
Nigliato, Eleonora
, et al.
소스
In
Gene
15 January 2025 933
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7 . Academic Journal
UNC5C : Novel Gene Associated with Psychiatric Disorders Impacts Dysregulation of Axon Guidance Pathways.
저자
by
Treccarichi, Simone
;
Failla, Pinella
;
Vinci, Mirella
;
Musumeci, Antonino
;
Gloria, Angelo
, et al.
소스
Genes
. Mar2024, Vol. 15 Issue 3, p306. 14p.
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7 . Academic Journal
Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies.
저자
by
Vetri, Luigi
;
Calì, Francesco
;
Saccone, Salvatore
;
Vinci, Mirella
;
Chiavetta, Natalia Valeria
, et al.
소스
International Journal of Molecular Sciences
. Jan2024, Vol. 25 Issue 2, p1146. 18p.
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7 . Academic Journal
Fibroblast Growth Factor Receptor 2 (FGFR2), a New Gene Involved in the Genesis of Autism Spectrum Disorder.
저자
by
Nicotera, Antonio Gennaro
;
Amore, Greta
;
Saia, Maria Concetta
;
Vinci, Mirella
;
Musumeci, Antonino
, et al.
소스
NeuroMolecular Medicine; Dec2023, Vol. 25 Issue 4, p650-656, 7p
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