2017, Number 1

Contents

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Red EQUATOR: el uso de las guías de reporte para garantizar una publicación de calidad

Zúñiga Rosales, Yaíma

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Genetic analysis of c.2299delG and c.2276C>G mutations in USH2A gene in Cuban patients with Usher syndrome type 2

Esperón Álvarez, Antonio Alejandro; Rosado Ruíz-Apodaca, Ileana; Santana Hernández, Elayne; Dyce Gordon, Beatriz; Reyes Navarro, Lídice

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Molecular characterization of the GBA gene in Cuban patients with Gaucher disease

López Reyes, Ixchel; Esperón Álvarez, Antonio Alejandro; Lavaut Sánchez, Kalia; Puerta Díaz, Arelys; Santos González, Elvia Nelemi; Rubio González, Tamara; Reyes Navarro, Lídice; Gómez Martínez, Manuel; Acanda de la Rocha, Arlet María; Collazo Mesa, Teresa

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Peculiarities of the biopsychosocial study of people with disabilities in Saint Vincent and the Grenadines

Portuondo Sao, Miriam; Cobas Ruiz, Marcia; Lardoeyt Ferrer, Roberto; Pérez Ulloa, Luis Enrique; Barceló Montiel, Zaida; Isidrón Saiza, Danay

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Design and implementation of a methodology of Good Practices in the Department of Biochemical Genetics of the National Center of Medical Genetics of Cuba

Fuentes Cortés, Iovana; Louro Provedo, Yindra; Valdés Fraser, Yadira; Acosta Sánchez, Tatiana; Tudela Cano, Maylin

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Rett syndrome: diagnostic, molecular and therapeutic update

Merencio Santos, Lainet; Collazo Mesa, Teresa

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Karyotype-phenotype correlation in 9p deletion syndrome: conventional and molecular cytogenetic approach

Lantigua Cruz, Araceli; Sánchez Peñarate, Diana; Méndez Rosado, Luis Alberto; Torres Rives, Bárbara; Tasé Vila, Denia; Icart Pereira, Emelia

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Neurocutaneous melanosis associated with humoral immunodeficiency. A case report

Torres Rives, Bárbara; Portal Miranda, José Angel; Calixto Robert, Yohandra; Lantigua Cruz, Araceli; Mederos Benítez, Yendry; Rodríguez Pelier, Cira; Martínez Téllez, Goitybell