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A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy. [electronic resource] by
- Vetri, Luigi
- Calì, Francesco
- Vinci, Mirella
- Amato, Carmelo
- Roccella, Michele
- Granata, Tiziana
- Freri, Elena
- Solazzi, Roberta
- Romano, Valentino
- Elia, Maurizio
Producer: 20201231
In:
European journal of medical genetics vol. 63
Availability: No items available.
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Cell line DNA typing in forensic genetics--the necessity of reliable standards. [electronic resource] by
- Szibor, Reinhard
- Edelmann, Jeanett
- Hering, Sandra
- Plate, Ines
- Wittig, Holger
- Roewer, Lutz
- Wiegand, Peter
- Calì, Francesco
- Romano, Valentino
- Michael, Matthias
Producer: 20040204
In:
Forensic science international vol. 138
Availability: No items available.
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Interpreting Genetic Variants: Hints from a Family Cluster of Parkinson's Disease. [electronic resource] by
- Cali, Francesco
- Cantone, Mariagiovanna
- Cosentino, Filomena Irene Ilaria
- Lanza, Giuseppe
- Ruggeri, Giuseppa
- Chiavetta, Valeria
- Salluzzo, Roberto
- Ragalmuto, Alda
- Vinci, Mirella
- Ferri, Raffaele
Producer: 20200520
In:
Journal of Parkinson's disease vol. 9
Availability: No items available.
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Carrier screening for spinal muscular atrophy in Italian population. [electronic resource] by
- Calì, Francesco
- Ruggeri, Giuseppa
- Chiavetta, Valeria
- Scuderi, Carmela
- Bianca, Sebastiano
- Barone, Chiara
- Ragalmuto, Alda
- Schinocca, Pietro
- Vitello, Girolamo Aurelio
- Romano, Valentino
- Musumeci, Sebastiano
Producer: 20150406
In:
Journal of genetics vol. 93
Availability: No items available.
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Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics. [electronic resource] by
- Cali, Francesco
- Ruggeri, Giuseppa
- Vinci, Mirella
- Meli, Concetta
- Carducci, Carla
- Leuzzi, Vincenzo
- Pozzessere, Simone
- Schinocca, Pietro
- Ragalmuto, Alda
- Chiavetta, Valeria
- Micciche, Salvatore
- Romano, Valentinox
Producer: 20100614
In:
Experimental & molecular medicine vol. 42
Availability: No items available.
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Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome. [electronic resource] by
- Cali, Francesco
- Ragalmuto, Alda
- Chiavetta, Valeria
- Calabrese, Giuseppe
- Fichera, Marco
- Vinci, Mirella
- Ruggeri, Giuseppa
- Schinocca, Pietro
- Sturnio, Maurizio
- Romano, Salvatore
- Romano, Valentino
- Elia, Maurizio
Producer: 20110323
In:
Experimental & molecular medicine vol. 42
Availability: No items available.
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SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Sicilian patients with melanoma. [electronic resource] by
- Salemi, Michele
- Bosco, Paolo
- Calì, Francesco
- Calogero, Aldo E
- Soma, Pier Franco
- Galia, Antonio
- Lanzafame, Manuela
- Romano, Carmelo
- Vicari, Enzo
- Grasso, Giuseppe
- Siragò, Paolo
- Rappazzo, Giancarlo
Producer: 20090107
In:
Melanoma research vol. 18
Availability: No items available.
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Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy. [electronic resource] by
- Fichera, Marco
- Failla, Pinella
- Saccuzzo, Lucia
- Miceli, Martina
- Salvo, Eliana
- Castiglia, Lucia
- Galesi, Ornella
- Grillo, Lucia
- Calì, Francesco
- Greco, Donatella
- Amato, Carmelo
- Romano, Corrado
- Elia, Maurizio
Producer: 20190219
In:
Human genetics vol. 138
Availability: No items available.
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