Results 131 to 140 of about 2,244,814 (366)
Türk Kardiyoloji Derneği Arşivi, 2014 Pulmonary valve atresia with intact ventricular septum, which is a rare congenital heart defect, can be treated either surgically or via transcatheter.
İbrahim Cansaran Tanıdır +3 more
doaj +1 more source
A CASE OF DEFECT IN THE VENTRICULAR SEPTUM AND STENOSIS OF THE PULMONARY CONUS IN A MAN THIRTY-TWO YEARS OLD, WITH DEMONSTRATION OF THE HEART. [PDF]
, 1897 Josephine E. Young
openalex +1 more source
Development of the membranous septum in the human heart [PDF]
Heart, 1980 R H Anderson, G Conte, S P Allwork
openaire +3 more sources
A Population‐Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Limb body wall complex (LBWC) is a lethal condition comprising major congenital anomalies. Although currently diagnosed in the early prenatal period, historical diagnostic criteria are based on detailed pathological assessments. Prenatal and postnatal findings of LBWC and their phenotypic overlap with body stalk anomaly (BSA) and recurrent ...
Mary Ann Thomas +2 more
wiley +1 more source
CLINICAL CASE OF MULTIPLE HEART TUMORS IN NEWBORN
Мать и дитя в Кузбассе, 2019 Heart tumors are a rare pathology, especially in children. They have a varied characteristic. This disease can affect any part of the organ, the pericardium, the myocardium, the valves, the internal tissue of the heart, as well as the septum between the ...
Елена Викторовна Гольцман +4 more
doaj
The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue +16 more
wiley +1 more source
Coexistence of Atrioventricular Nodal Reentrant Tachycardia and Idiopathic Left Ventricular Outflow-Tract Tachycardia [PDF]
, 2005 Double tachycardia is a relatively rare condition. We describe a 21 year old woman with history of frequent palpitations. In one of these episodes, she had wide complex tachycardia with right bundle branch and inferior axis morphology.
Arya, Arash +6 more
core +2 more sources
AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear +16 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff +8 more
wiley +1 more source
Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim +2 more
wiley +1 more source