Results 171 to 180 of about 2,263,137 (364)
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT It is evident that Turner syndrome (TS) impacts almost all developmental stages of the fetal heart with congenital heart disease (CHD) being seen in 23%–50% of individuals. Although the spectrum of CHDs in TS is well‐established, with left‐sided lesions predominating, the influence of specific karyotypes on the prevalence and types of CHDs ...
Francisco Álvarez‐Nava +5 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.Deleting Col6a3 exon 3 by CRISPR in mice results in centralized nuclei consistent with a myopathy phenotype mimicking collagen VI‐associated human disease Abstract Background Most mutations in the COL6A3 gene lead to collagen VI‐related myopathies. This is due to a reduced expression or mislocalization of the COL6A3 protein.
Michel ElChoueiry +12 more
wiley +1 more source
Association of neural tube defects with congenital abnormalities of the urogenital system in a Chinese cohort. [PDF]
BMC Pediatr, 2021 Hong ZH +5 more
europepmc +1 more source
Congenital Hemolytic Disease Associated with Red Cell Inclusion Bodies, Abnormal Pigment Metabolism and an Electrophoretic Hemoglobin Abnormality [PDF]
, 1960 Joseph L. Scott +3 more
openalex +1 more source
Advances in miRNA research: Unraveling the complexities of gene regulation
Animal Models and Experimental Medicine, EarlyView.Overview of miRNA‐mediated regulation in key biological processes. This illustration offers a comprehensive view of the diverse functions that microRNAs perform in governing various biological processes, highlighting their profound significance within the complex web of gene expression and cellular function.
Jiawei Zheng, Guoqing Zhang, Linzhu Ren
wiley +1 more source
Congenital abnormalities associated with Zika virus infection-Dengue as potential co-factor? A systematic review. [PDF]
PLoS Negl Trop Dis, 2021 Petzold S +7 more
europepmc +1 more source
Congenital Abnormalities in the African Newborn [PDF]
, 1961 M. J. Simpkiss, Alexander J. Lowe
openalex +1 more source
Mapping Postictal Aphasia through Signal Complexity: A Stereo‐Electroencephalography Study
Annals of Neurology, EarlyView.Objective The postictal period provides an opportunity to investigate the pathophysiology underlying aphasia and recovery following epileptic seizures. This study examines postictal aphasia in stereo‐electroencephalography (SEEG)‐explored patients to identify brain regions associated with task‐specific language deficits using signal complexity analysis.
Ionuț‐Flavius Bratu +6 more
wiley +1 more source