Familial Hypercholesterolemia: new therapeutic approaches

nork Bartuli, Andrea, Macchiaiolo, Marina, Rana, Ippolita, Buonuomo, Paola Sabrina
Argitaratua izan da Ital J Pediatr (2015)

The work experience of a patient affected by Williams Syndrome: a pilot project at the Bambino Gesù Children’s Hospital

nork De Lorenzo, Francesca, Macchiaiolo, Marina, Carlevaris, Carla Maria, Bartuli, Andrea
Argitaratua izan da Orphanet J Rare Dis (2017)

An unusual case of anisocoria by vegetal intoxication: a case report

nork Macchiaiolo, Marina, Vignati, Elettra, Gonfiantini, Michaela V, Grandin, Annalisa, Romano, Maria Teresa, Salata, Michele, Valentini, Diletta, Villani, Alberto
Argitaratua 2010

Very mild isolated intellectual disability caused by adenylosuccinate lyase deficiency: a new phenotype()

nork Macchiaiolo, Marina, Buonuomo, Paola Sabrina, Mastrogiorgio, Gerarda, Bordi, Matteo, Testa, Beatrice, Weber, Gerrit, Bellacchio, Emanuele, Tartaglia, Marco, Cecconi, Francesco, Bartuli, Andrea
Argitaratua izan da Mol Genet Metab Rep (2020)

Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis:  Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization

nork Diociaiuti, Andrea, Martinelli, Diego, Nicita, Francesco, Cesario, Claudia, Pisaneschi, Elisa, Macchiaiolo, Marina, Rossi, Sabrina, Condorelli, Angelo Giuseppe, Zambruno, Giovanna, El Hachem, May
Argitaratua izan da Genes (Basel) (2021)

Congenital Craniofacial Plexiform Neurofibroma in Neurofibromatosis Type 1

nork Cacchione, Antonella, Carboni, Alessia, Lodi, Mariachiara, Vito, Rita De, Carai, Andrea, Marrazzo, Antonio, Macchiaiolo, Marina, Voicu, Ioan Paul, Mastronuzzi, Angela, Colafati, Giovanna Stefania
Argitaratua izan da Diagnostics (Basel) (2021)

Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency

nork Mastrogiorgio, Gerarda, Macchiaiolo, Marina, Buonuomo, Paola Sabrina, Bellacchio, Emanuele, Bordi, Matteo, Vecchio, Davide, Brown, Kari Payne, Watson, Natalie Karen, Contardi, Benedetta, Cecconi, Francesco, Tartaglia, Marco, Bartuli, Andrea
Argitaratua izan da Orphanet J Rare Dis (2021)

A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing

nork Macchiaiolo, Marina, Barresi, Sabina, Cecconi, Francesco, Zanni, Ginevra, Niceta, Marcello, Bellacchio, Emanuele, Lazzarino, Giacomo, Amorini, Angela Maria, Bertini, Enrico Silvio, Rizza, Salvatore, Contardi, Benedetta, Tartaglia, Marco, Bartuli, Andrea
Argitaratua izan da Ital J Pediatr (2017)

Synchronous Presentation of Rare Brain Tumors in Von Hippel–Lindau Syndrome

nork Lodi, Mariachiara, Marrazzo, Antonio, Cacchione, Antonella, Macchiaiolo, Marina, Romanzo, Antonino, Mastronardi, Luciano, Diomedi-Camassei, Francesca, Carboni, Alessia, Carai, Andrea, Gandolfo, Carlo, Monti, Lidia, Mastronuzzi, Angela, Colafati, Giovanna Stefania
Argitaratua izan da Diagnostics (Basel) (2021)

Deciphering the Invdupdel(8p) Genotype–Phenotype Correlation: Our Opinion

nork Lo Bianco, Manuela, Vecchio, Davide, Timpanaro, Tiziana A., Arena, Alessia, Macchiaiolo, Marina, Bartuli, Andrea, Sciuto, Laura, Presti, Santiago, Sciuto, Sarah, Sapuppo, Annamaria, Fiumara, Agata, Marino, Lidia, Messina, Giulia, Pavone, Piero
Argitaratua izan da Brain Sci (2020)

(Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome

nork Mussa, Alessandro, Russo, Silvia, De Crescenzo, Agostina, Freschi, Andrea, Calzari, Luciano, Maitz, Silvia, Macchiaiolo, Marina, Molinatto, Cristina, Baldassarre, Giuseppina, Mariani, Milena, Tarani, Luigi, Bedeschi, Maria Francesca, Milani, Donatella, Melis, Daniela, Bartuli, Andrea, Cubellis, Maria Vittoria, Selicorni, Angelo, Cirillo Silengo, Margherita, Larizza, Lidia, Riccio, Andrea, Ferrero, Giovanni Battista
Argitaratua izan da Eur J Hum Genet (2016)

Nomenclature and Definition in Asymmetric Regional Body Overgrowth

nork Kalish, Jennifer M, Biesecker, Leslie G, Brioude, Frederic, Deardorff, Matthew A, Di Cesare-Merlone, Alessandra, Druley, Todd, Ferrero, Giovanni B, Lapunzina, Pablo, Larizza, Lidia, Maas, Saskia, Macchiaiolo, Marina, Maher, Eamonn R, Maitz, Silvia, Martinez-Agosto, Julian A., Mussa, Alessandro, Robinson, Peter, Russo, Silvia, Selicorni, Angelo, Hennekam, Raoul C
Argitaratua izan da Am J Med Genet A (2017)

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

nork Drivas, Theodore G., Li, Dong, Nair, Divya, Alaimo, Joseph T., Alders, Mariëlle, Altmüller, Janine, Barakat, Tahsin Stefan, Bebin, E. Martina, Bertsch, Nicole L., Blackburn, Patrick R., Blesson, Alyssa, Bouman, Arjan M., Brockmann, Knut, Brunelle, Perrine, Burmeister, Margit, Cooper, Gregory M., Denecke, Jonas, Dieux-Coëslier, Anne, Dubbs, Holly, Ferrer, Alejandro, Gal, Danna, Bartik, Lauren E., Gunderson, Lauren B., Hasadsri, Linda, Jain, Mahim, Karimov, Catherine, Keena, Beth, Klee, Eric W., Kloth, Katja, Lace, Baiba, Macchiaiolo, Marina, Marcadier, Julien L., Milunsky, Jeff M., Napier, Melanie P., Ortiz-Gonzalez, Xilma R., Pichurin, Pavel N., Pinner, Jason, Powis, Zoe, Prasad, Chitra, Radio, Francesca Clementina, Rasmussen, Kristen J., Renaud, Deborah L., Rush, Eric T., Saunders, Carol, Selcen, Duygu, Seman, Ann R., Shinde, Deepali N., Smith, Erica D., Smol, Thomas, Snijders Blok, Lot, Stoler, Joan M., Tang, Sha, Tartaglia, Marco, Thompson, Michelle L., van de Kamp, Jiddeke M., Wang, Jingmin, Weise, Dagmar, Weiss, Karin, Woitschach, Rixa, Wollnik, Bernd, Yan, Huifang, Zackai, Elaine H., Zampino, Giuseppe, Campeau, Philippe, Bhoj, Elizabeth
Argitaratua izan da Eur J Hum Genet (2020)