Search Results - Calacci, Chiara

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  1. 1
    Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis

    Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis by Alesi, Viola, Dentici, Maria Lisa, Genovese, Silvia, Loddo, Sara, Bellacchio, Emanuele, Orlando, Valeria, Di Tommaso, Silvia, Catino, Giorgia, Calacci, Chiara, Calvieri, Giusy, Pompili, Daniele, Ubertini, Graziamaria, Dallapiccola, Bruno, Capolino, Rossella, Novelli, Antonio

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  2. 2
    METB-04. UTILITY OF OPTICAL GENOME MAPPING IN THE CHARACTERIZATION OF PAEDIATRIC CENTRAL NERVOUS SYSTEM TUMOURS: ANALYSIS OF A MONO-INSTITUTIONAL SERIES OF 26 CASES

    METB-04. UTILITY OF OPTICAL GENOME MAPPING IN THE CHARACTERIZATION OF PAEDIATRIC CENTRAL NERVOUS SYSTEM TUMOURS: ANALYSIS OF A MONO-INSTITUTIONAL SERIES OF 26 CASES by alesi, viola, Genovese, Silvia, Russo, Serena, Giovannoni, Isabella, Barresi, Sabina, Tancredi, Chantal, Pedace, Lucia, Lombardo, Antonietta, Bontempo, Piera, Agolini, Emanuele, Calacci, Chiara, Morgia, Alessandra, Calvieri, Giusy, Puggioni, Chiara, Cardoni, Antonello, Cacchione, Antonella, Baldo, Giada Del, Colafati, Giovanna Stefania, Carai, Andrea, Mastronuzzi, Angela, Miele, Evelina, Abeni, Damiano, Locatelli, Franco, Muda, Andrea Onetti, Novelli, Antonio, Alaggio, Rita, Rossi, Sabrina

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  3. 3
    Atypical 7q11.23 deletions excluding ELN gene result in Williams–Beuren syndrome craniofacial features and neurocognitive profile

    Atypical 7q11.23 deletions excluding ELN gene result in Williams–Beuren syndrome craniofacial features and neurocognitive profile by Alesi, Viola, Loddo, Sara, Orlando, Valeria, Genovese, Silvia, Di Tommaso, Silvia, Liambo, Maria Teresa, Pompili, Daniele, Ferretti, Daniele, Calacci, Chiara, Catino, Giorgia, Falasca, Roberto, Dentici, Maria Lisa, Novelli, Antonio, Digilio, Maria Cristina, Dallapiccola, Bruno

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  4. 4
    Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange–like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome

    Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange–like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome by Alesi, Viola, Dentici, Maria Lisa, Loddo, Sara, Genovese, Silvia, Orlando, Valeria, Calacci, Chiara, Pompili, Daniele, Dallapiccola, Bruno, Digilio, Maria Cristina, Novelli, Antonio

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  5. 5
    An additional patient with a homozygous mutation in DCPS contributes to the delination of Al‐Raqad syndrome

    An additional patient with a homozygous mutation in DCPS contributes to the delination of Al‐Raqad syndrome by Alesi, Viola, Capolino, Rossella, Genovese, Silvia, Capriati, Teresa, Loddo, Sara, Calvieri, Giusy, Calacci, Chiara, Diociaiuti, Andrea, Diamanti, Antonella, Novelli, Antonio, Dallapiccola, Bruno

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  6. 6
    A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome

    A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome by Alesi, Viola, Loddo, Sara, Calì, Federica, Orlando, Valeria, Genovese, Silvia, Ferretti, Daniele, Calacci, Chiara, Calvieri, Giusy, Falasca, Roberto, Ulgheri, Lucia, Drago, Fabrizio, Dallapiccola, Bruno, Baban, Anwar, Novelli, Antonio

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  7. 7
    Clinical Application of Easychip 8x15K Platform in 4106 Pregnancies Without Ultrasound Anomalies

    Clinical Application of Easychip 8x15K Platform in 4106 Pregnancies Without Ultrasound Anomalies by Orlando, Valeria, Alesi, Viola, Di Giacomo, Gianluca, Canestrelli, Michela, Calacci, Chiara, Nardone, Anna Maria, Calvieri, Giusy, Liambo, Maria Teresa, Sallicandro, Ester, Di Tommaso, Silvia, Di Gregorio, Maria Grazia, Corrado, Francesco, Barrano, Giuseppe, Niceta, Marcello, Dallapiccola, Bruno, Novelli, Antonio

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  8. 8
    Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister–Killian syndrome

    Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister–Killian syndrome by Alesi, Viola, Dentici, Maria L., Restaldi, Fabrizia, Orlando, Valeria, Liambo, Maria T., Calacci, Chiara, Capolino, Rossella, Digilio, Maria C., El Hachem, May, Novelli, Antonio, Diociaiuti, Andrea, Dallapiccola, Bruno

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  9. 9
    Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile

    Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile by Alesi, Viola, Loddo, Sara, Orlando, Valeria, Genovese, Silvia, Di Tommaso, Silvia, Liambo, Maria Teresa, Pompili, Daniele, Ferretti, Daniele, Calacci, Chiara, Catino, Giorgia, Falasca, Roberto, Dentici, Maria Lisa, Novelli, Antonio, Digilio, Maria Cristina, Dallapiccola, Bruno

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