Results 61 to 70 of about 500 (134)
, 2015 Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature.
A Cohen +34 more
core +7 more sources
, 2020 Additional file 2: Table S1. Number of prioritized variants during the WES data filtering analysis.
Jacob, Arthur +10 more
openaire +1 more source
A case-control genome-wide association study identifies genetic modifiers of fetal hemoglobin in sickle cell disease. [PDF]
, 2016 Sickle cell disease (SCD) is a group of inherited blood disorders that have in common a mutation in the sixth codon of the β-globin (HBB) gene on chromosome 11.
Ballas, Samir K. +8 more
core +1 more source
dSreg: a Bayesian model to integrate changes in splicing and RNA-binding protein activity [PDF]
, 2020 MOTIVATION: Alternative splicing (AS) is an important mechanism in the generation of transcript diversity across mammals. AS patterns are dynamically regulated during development and in response to environmental changes.
Lara-Pezzi, Enrique +2 more
core +1 more source
, 2020 Additional file 1: Supplementary Fig. 1. mRNA sequence of the WT allele versus the mutant allele. The exon 9 skipping in mutant allele is predicted to cause a frameshift, leading to a premature codon stop. The exon 8 is in red, exon 9 in green and exon 10 in blue.
Jacob, Arthur +10 more
openaire +1 more source
Johnson-McMillin syndrome (JMS): description of the first patient in Spain. [PDF]
, 2012 Dismorfología y Genética ClínicaThe JMS (OMIM: 147770) is a rare autosomal dominant neuroectodermal disorder characterized by alopecia, ear malformations, conductive hearing loss, anosmia/hyposmia, and hypogonadotropic hypogonadism.
Arteaga, RM +3 more
core
Neonatal Care for Anesthesiologists [PDF]
, 2017 In recent years, developments in obstetrics and neonatology have significantly improved the survival and quality life time of neonates. Therefore, anesthesiologists are more confronted with these patients due to surgical and non-surgical procedures.
Caliskan, Esra
core +2 more sources
Identifying the Genetic Causes of Congenital Anomalies
, 2023 Structural organ anomalies (malformations) are common and cause significant mortality and morbidity worldwide. The aim of this study was to identify monogenic causes of malformations to understand their pathogenesis, enhance clinical care and ultimately ...
Enriquez, Annabelle
core +1 more source
Globularization and Domestication [PDF]
, 2018 This paper aims to explore a potential connection between two hypotheses recently put forward in the context of language evolution. One hypothesis argues that some human-specific change(s) in the hominin brain developmental program habilitated the ...
Benítez Burraco, Antonio +2 more
core +1 more source
Genetics and genomics in Brazil: a promising future [PDF]
, 2014 The authors would like to express their gratitude to Celia P. Koiffmann for a critical review of the manuscript. M. R. P. B., D. B., and L. A. B.
Bertola, Débora Romeo +4 more
core +1 more source