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Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants
OtherAbstract: Context Heterozygous variants in the Indian hedgehog gene (IHH) have been reported to cause brachydaPalabras claves:Autores:Gabriel MorenoFuentes:googleAspectos genéticos de la obesidad
OtherAbstract: El impacto económico actual y futuro atribuible a la obesidad en las etapas iniciales de la vida yaPalabras claves:Autores:Gabriel MorenoFuentes:googleAssociation of host genome with intestinal microbial composition in a large healthy cohort
OtherAbstract: Intestinal microbiota is known to be important in health and disease. Its composition is influencedPalabras claves:Autores:Gabriel MorenoFuentes:google126 Fine Mapping the Association of IL23R SNPs With Microbiota Composition in Healthy Subjects
OtherAbstract: 126 Fine Mapping the Association of IL23R SNPs With Microbiota Composition in Healthy Subjects × CloPalabras claves:Autores:Gabriel MorenoFuentes:google128 Evaluation of Genetic and Microbial Determinants of Intestinal Permeability in Healthy First Degree Relatives of Crohn's Disease
OtherAbstract: 128 Evaluation of Genetic and Microbial Determinants of Intestinal Permeability in Healthy First DegPalabras claves:Autores:Gabriel MorenoFuentes:google259 Specific Crohn's Disease (CD) Associated Risk Alleles Are Associated With the Composition of the Intestinal Microbiota in Healthy First Degree Relatives (FDR) of CD Subjects
OtherAbstract: 259 Specific Crohn's Disease (CD) Associated Risk Alleles Are Associated With the Composition of thePalabras claves:Autores:Gabriel MorenoFuentes:googleA novel melanocortin-4 receptor mutation MC4R-P272L associated with severe obesity has increased propensity to be ubiquitinated in the ER in the face of correct folding
OtherAbstract: Heterozygous mutations in the melanocortin-4 receptor (MC4R) gene represent the most frequent causePalabras claves:Autores:Gabriel MorenoFuentes:googleContribution of Rare CNVs and Point Mutations to the Etiology of Severe Early-onset Obesity
OtherAbstract:Palabras claves:Autores:Gabriel MorenoFuentes:googleCorrigendum to: Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency (American Journal of Medical Genetics Part A,(2020), 182, 8,(1952 …
OtherAbstract: Corrigendum to: Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone dPalabras claves:Autores:Gabriel MorenoFuentes:googleDefective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency
OtherAbstract: The molecular basis of a significant number of cases of isolated growth hormone deficiency remains uPalabras claves:Autores:Gabriel MorenoFuentes:google