Diagnosis of Methyl Malonicaciduria from 2013 to 2018 by Alina Concepción Álvarez, Ivette Camayd Viera, Norma Elena de León Ojeda, Alina García García, Laritza Martínez Rey, Daniel Quintana Hernández

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Enfermedades esqueléticas de causa genética: experiencia en un servicio de referencia nacional by Estela Morales Peralta, Gretell Huertas Pérez

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Síndrome de Marfan. Presentación de un caso by Laydamí Rodríguez Amador, Idioel Abreu La Rosa, Héctor Javier Cruz de los Santos, Lorena Álvarez Fernández, Ana Laura Taillacq Suárez, Roberto Lloveras Casañas

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Costello Syndrome. A case report by Yadelis Maldonado Martínez, Alexander Torres Molina, Diorgis Duran Lobaina

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Noonan's Syndrome. Case Report by Mirsa Rosas Hernández, Elba Daisy Rivas Rodríguez, Raúl E. Silva Silva

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Prader-Willi Syndrome. About a Case by Carlos Enrique Cruz Carrazana, Claudia García Carrazana

Subjects: “…enfermedades genéticas congénitas…”
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Essentials of diagnosis and prevention of genetic diseases in the primary health care. by Julia Surí González, María Antonia Ocaña Gil, María del Rosario Liriano Ricabal, Luisa Días Requeiro, Antonio Masót Rangel, Sonia González Sosa

Subjects: “…enfermedades genéticas congénitas…”
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La hipocalcemia severa, una emergencia endocrina de difícil manejo by Amanda Páez Talero

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Síndrome de Axenfeld-Rieger. Presentación de un caso by Armando Rafael Milanés Armengol, Kattia Molina Castellanos, Yusnavy Lozano Curbelo, Marla Milanés Molina, Ángel Miguel Ojeda Leal

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Genetic factors for breast carcinogenesis by Pedro Enrique Miguel-Soca, Ivis Argüelles González, Marisol Peña González

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Diagnóstico molecular de distrofia muscular de Duchenne/Becker en una familia sin antecedentes patológicos de la enfermedad by Ivonne Martín Hernández, Alejandro Ariosa Olea, Mariesky Zayas Guillot, Tatiana Zaldívar Vaillant, Celia Rosa Soto Pérez-Stable

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Marfan Syndrome: Regarding Two Cases by Elsy Roxana Geroy Moya, María Quiñones Hernández, Anaelys Acosta Hernández

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Neurofibromatosis type 1 or Von Recklinghausen's disease. A case report by Marisleidy Denis Rodríguez, Miguel Alejandro Pulido Gutiérrez, Thaimi Conde Cueto, Luis Omar López Hurtado

Subjects: “…neurofibromatosis 1, enfermedad genética…”
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Síndrome de Cohen. Presentación de un caso by Elayne Esther Santana Hernández, Victor Jesús Tamayo Chang

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Airway approach in a pediatric patient with Noonan syndrome. Presentation of a case by Dayane García Jiménez, Rolando Javier Álvarez Pérez, Robin Fajardo Alcalá, Ivanis Idael Corría Milán

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