Aspectos clínicos, etiológicos y terapéuticos de la disqueratosis congénita by Rosario Perona, Leandro Sastre, Michele Callea, Francisco Cammarata-Scalisi

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Challenges in Communicating a Genetic Diagnosis by Francisco Cammarata-Scalisi, Colin Eric Willoughby, Vito Romano, Michele Callea

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COVID-19 y fibrosis quística. Antecedentes y recomendaciones by Francisco Cammarata-Scalisi, Antonio Cárdenas-Tadich, Marco Medina, Marcia Vega, Michele Callea

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Membranous aplasia cutis congenita in trisomy 18 by Francisco Cammarata-Scalisi, Andrea Diociaiuti, Blanca de Guerrero, Colin Eric Willoughby, Michele Callea

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TSC2/PKD1 contiguous gene syndrome by Francisco Cammarata-Scalisi, Concha Vidales Moreno, Carmen Zara-Chirinos, Ana Bracho, Diomar Pérez

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Duplicación gástrica. Reporte de un caso y revisión de la literatura by Frances Stock, Francisco Cammarata-Scalisi, Pierina Petrosino, Asmiria Arenas de Sotolongo, Melisse Milano, Mario Farias

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Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of <i>CDKN1C</i> by Angela Sparago, Flavia Cerrato, Laura Pignata, Francisco Cammarata-Scalisi, Livia Garavelli, Carmelo Piscopo, Alessandra Vancini, Andrea Riccio

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Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita by Michele Callea, Diego Martinelli, Francisco Cammarata-Scalisi, Chiara Grimaldi, Houweyda Jilani, Piercesare Grimaldi, Colin Eric Willoughby, Antonino Morabito

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Frecuencia del ano imperforado y factores de riesgo asociados en pacientes con síndrome de Down by Francisco Cammarata-Scalisi, Mariela Paoli-Valeri, Graciela Cammarata-Scalisi, José Javier Díaz, Raif Nasre, María Elena Cammarata-Scalisi

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Extended Overview of Ocular Phenotype with Recent Advances in Hypohidrotic Ectodermal Dysplasia by Michele Callea, Stefano Bignotti, Francesco Semeraro, Francisco Cammarata-Scalisi, Jinia El-Feghaly, Antonino Morabito, Vito Romano, Colin E. Willoughby

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Oral Manifestations and Complications in Childhood Acute Myeloid Leukemia by Francisco Cammarata-Scalisi, Katia Girardi, Luisa Strocchio, Pietro Merli, Annelyse Garret Bernardin, Angela Galeotti, Fabio Magliarditi, Alessandro Inserra, Michele Callea

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Obstrucción gastrointestinal en la trisomía X en mosaico by Francisco Cammarata-Scalisi, Dianora Araque, Frances Stock, Mercedes Molina, Raúl Rodríguez, Greicy Vázquez, Graciela Cammarata-Scalisi, María Elena Cammarata-Scalisi

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Síndrome de Williams-Beuren. Enfoque diagnóstico a través del fenotipo by María Angelina Lacruz-Rengel, Francisco Cammarata-Scalisi, Michele Callea, Florines Peña Avendaño, María Katheryne Peña Meneses, Gloria Da Silva, Justo Santiago, Santiago Peñaloza, Rafael Colina

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Características clínicas y citogenéticas en el síndrome de Wolf-Hirschhorn. Serie de casos by Francisco Cammarata-Scalisi, Michele Callea, Dianora Araque, María Angelina Lacruz-Rengel, María Angelina Lacruz-Rengel, Gloria Da Silva, Gloria Da Silva, Rodolfo Josué Ramírez, Fabiola López

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Clinical and Genetic Aspects of Phelan–McDermid Syndrome: An Interdisciplinary Approach to Management by Francisco Cammarata-Scalisi, Michele Callea, Diego Martinelli, Colin Eric Willoughby, Antonio Cárdenas Tadich, Maykol Araya Castillo, María Angelina Lacruz-Rengel, Marco Medina, Piercesare Grimaldi, Enrico Bertini, Julián Nevado

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