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A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report
OtherAbstract: Background Anaplastic astrocytoma is a rare disorder in children from 10 to 14 years of age, with anPalabras claves:Autores:Jennyfer GarcíaFuentes:googleCharacterization of Ancestral Origin of Cystic Fibrosis of Patients with New Reported Mutations in CFTR
ArticleAbstract: The incidence of cystic fibrosis (CF) and the frequency of the variants reported for CFTR depend onPalabras claves:Autores:, Alexandra Patricia Guevara, Andrés López-Cortés, Andy Pérez-Villa, Cesar Paz-y-Miño, Isaac Armendáriz-Castillo, Jennyfer García, Jennyfer M. García-Cárdenas, Juan Carlos Ruiz-Cabezas, Paola E. Leone, Santiago Xavier Guerrero, Verónica YumicebaFuentes:googlescopusClinical, genomics and networking analyses of a high-altitude native American Ecuadorian patient with congenital insensitivity to pain with anhidrosis: a case report
OtherAbstract: Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare autosomal recessive disPalabras claves:Autores:Jennyfer GarcíaFuentes:googleAnalysis of racial/ethnic representation in select basic and applied cancer research studies
OtherAbstract: Over the past decades, consistent studies have shown that race/ethnicity have a great impact on cancPalabras claves:Autores:Jennyfer GarcíaFuentes:googleAncestral analysis of a Native American Ecuadorian family with congenital insensitivity to pain with anhidrosis
ArticleAbstract: Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare autosomal recessive disPalabras claves:Congenital insensitivity to pain with anhidrosis, ecuadorian, FAAH, Native American, NTRK1Autores:, Albuja Echeverría B., Alexandra Patricia Guevara, Andrés López-Cortés, Andy Pérez-Villa, Cesar Paz-y-Miño, Eliana Cabascango, Isaac Armendáriz-Castillo, Jennyfer García, Jennyfer M. García-Cárdenas, Paola E. Leone, Pérez-M G., Santiago Xavier Guerrero, Verónica YumicebaFuentes:googlescopusAncestry study in Ecuadorian population with multiple myeloma
ArticleAbstract: Multiple myeloma (MM) is a type of hematologic cancer that mainly affects the afro-descendant populaPalabras claves:Ancestry, ECUADOR, Multiple myelomaAutores:, Alejandro Cabrera-Andrade, Alexandra Patricia Guevara, Andrés López-Cortés, Cesar Paz-y-Miño, D. A. González, Jennyfer García, Jennyfer M. García-Cárdenas, Paola E. LeoneFuentes:googlescopusAlzheimer’s disease in Latin America and Caribe
OtherAbstract: Alzheimer’s disease is the most common dementia in elder people, where Apolipoprotein E ε4 genotypePalabras claves:Autores:Cesar Paz-y-Miño, Jennyfer GarcíaFuentes:googleCytogenetic and genomic analysis of a patient with turner syndrome and t (2; 12): a case report
OtherAbstract: Background Turner syndrome is a genetic disorder that affects women. It is caused by an absent or inPalabras claves:Autores:Cesar Paz-y-Miño, Jennyfer GarcíaFuentes:googleDe novo duplication of chromosome 9p in a female infant: phenotype and genotype correlation
OtherAbstract: Trisomy 9p syndrome is the fourth most frequent chromosome aberration seen in infants. Duplication oPalabras claves:Autores:Cesar Paz-y-Miño, Jennyfer GarcíaFuentes:googleAnálisis del potencial genotóxico y carcinógeno asociado a los cigarrillos electrónicos
OtherAbstract: Diferentes estudios que comparan riesgos a la salud asociados a los usos de cigarrillos electrónicosPalabras claves:Autores:Cesar Paz-y-Miño, Jennyfer GarcíaFuentes:google