Buscar por Materia Phenotype
Mostrando resultados 1 a 16 de 16
| Fecha de publicación | Título | Autor(es) |
| 2014 | A patient with trisomy 13 mosaicism with an unusual skin pigmentary pattern and prolonged survival | González del Angel, Ariadna |
| 2008 | Caracterización del fenotipo oxidativo en una población pediátrica de Tlaltizapan, Morelos, México | Flores Pérez, Janett |
| 2016 | Clinical Features, Non-Infectious Manifestations and Survival Analysis of 161 Children with Primary Immunodeficiency in Mexico: A Single Center Experience Over two Decades | Lugo Reyes, Saul Oswaldo |
| 2013 | Correlación genotipo-fenotipo en una muestra de pacientes mexicanos con fibrosis quística | Yokoyama Rebollar, Emiy |
| 2014 | Cytogenomic and phenotypic analysis in low-level monosomy 7 mosaicism with non-supernumerary ring chromosome 7 | Salas Labadía C |
| 2004 | DEB Test for Fanconi Anemia Detection in Patients with Atypical Phenotypes | Esmer C |
| 2012 | Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity | Lopez Herrera, Gabriela |
| 2015 | Deletion of exon 1 of the SLC16A2 gene: a common occurrence in patients with Allan-Herndon-Dudley syndrome | García de Teresa Benilde |
| 2002 | Detection of mosaicism in lymphocytes of parents of free trisomy 21 offspring. | Frias, Sara |
| 2011 | DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice | Randall Katrina L |
| 2012 | Fenotipo-genotipo Discrepancy Debido a una eliminación de 5,5 kb en el GALT Gene | González del Angel, Ariadna |
| 2006 | Fibrosis quística: La frontera del conocimiento molecular y sus aplicaciones clínicas | Orozco L |
| 2014 | Interstitial deletion of 2q24.2: Further delineation of an emerging syndrome associated with intellectual disability, severe hypotonia and moderate intrauterine growth restriction | Yokoyama Rebollar, Emiy |
| 2016 | Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases | Francesca Conti |
| 2011 | Primeros casos de monosomía 1p36 en México; diagnóstico a considerar en pacientes con retraso mental y dismorfias | Villarroel Camilo E |
| 2011 | Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: Review of the focal facial dermal dysplasias and subtype reclassification | Cervantes Barragán, David E |
