Search


Current filters:

Start a new search
Add filters:

Use filters to refine the search results.


Results 1-4 of 4 (Search time: 0.005 seconds).
  • previous
  • 1
  • next
Item hits:
Issue DateTitleAuthor(s)
Jul-2021Clinical Exome Sequencing Enables Congenital Sialidosis Type II Diagnosis in Two Siblings Presenting with Unreported Clinical Features from a Rare Homozygous Sequence Variant p.(Tyr370Cys) in NEU1Flores Contreras, Elda Ariadna; García Ortiz, José Elías; Robles Espinoza, Carla Daniela; Zomosa Signoret, Viviana; Becerra Solano, Luis Eduardo; Vidaltamayo, Román; Castaneda García, Carolina; Esparza García, Eduardo; Molina Aguilar, Christian; Hernández Orozco, Angélica Alejandra; Córdova Fletes, Carlos
Jul-2021Case Report: Whole Exome Sequencing Unveils an Inherited Truncating Variant in CNTN6 (p.Ser189Ter) in a Mexican Child with Autism Spectrum DisorderGarcía Ortiz, José Elías; Zarazúa Niño, Ana Itzel; Hernández Orozco, Angélica Alejandra; Reyes Oliva, Edwin A; Pérez Ávila, Carlos E.; Becerra Solano, Luis Eduardo; Galán Huerta, Kame A; Rivas Estilla, Ana María; Córdova Fletes, Carlos
Jun-2020Whole-exome sequencing in three children with sporadic Blau syndrome, one of them co-presenting with recurrent polyserositisCórdova Fletes, Carlos; Rangel Sosa, Martha M.; Martínez Jacobo, Lizeth A.; Becerra Solano, Luis Eduardo; Arellano Valdés, Carmen Araceli; Tlacuilo Parra, José Alberto; Galán Huerta, Kame Alberto; Rivas Estilla, Ana María; Hernandez Orozco, Angélica Alejandra; García Ortiz, José Elías
Jul-2022Causas del hidrops fetal: experiencia en un hospital obstétrico del Occidente de MéxicoBecerra Solano, Luis Eduardo; Medina Castellanos, Marcela; Oseguera Torres, Luis Fernando; Mendoza Ruvalcaba, Sandra del Carmen; Domínguez Quezada, María Guadalupe; García Ortiz, José Elías