Results 71 to 80 of about 40,026 (221)
Longest survivor of pulmonary atresia with ventricular septal defect without surgical intervention
ESC Heart Failure, Volume 12, Issue 2, Page 1499-1507, April 2025.
Sang Zhou +5 more
wiley +1 more source
Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature
Clinical Genetics, EarlyView.Cousin syndrome (MIM#260660) is a rare recognizable genetic disorder characterized by short stature, pelvi‐scapular dysplasia, and craniofacial dysmorphism due to biallelic pathogenic variants in the TBX15 gene. ABSTRACT Cousin syndrome (MIM#260660) is a rare genetic disorder characterized by short stature, pelvi‐scapular dysplasia and craniofacial ...
Wafaa Alharbi +6 more
wiley +1 more source
50. Successful percutanous closure of spiral atrial septal defect
Journal of the Saudi Heart Association, 2015 Device occlusion of secundum septal defects has become an accepted means of closure in cases where the anatomy of the atrial septum is judged suitable.
Mashail Abdulaziz Alobaidan +3 more
doaj +1 more source
Clinical Genetics, EarlyView.Noonan syndrome and related conditions are caused by variants in multiple genes. We analyzed 456 Russian patients using a 23‐gene panel and found disease‐causing variants in non‐PTPN11 genes in 85 cases. NF1, SOS1, BRAF, and SHOC2 explained half of these diagnoses.
Anna Orlova +5 more
wiley +1 more source
Anatomy of a wrong diagnosis: false Sinus Venosus Atrial Septal Defect
Cardiovascular Ultrasound, 2003 In contrast with transthoracic echocardiography, transesophageal echocardiography provides a sure way to make the diagnosis of sinus venosus atrial septal defect; on the other hand this abnormality is more complex than that seen with the secundum atrial ...
Montresor Graziano +2 more
doaj +1 more source
Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita
Clinical Genetics, EarlyView.We report on two individuals with arthrogryposis multiplex congenita who were heterozygous for ACTC1 missense variants (NM_005159.5; c.325G>A, p.Glu109Lys and c.650A>C, p.Lys217Thr) and provide a characterization of these variants through in vitro studies.
Lauren Kerr +5 more
wiley +1 more source
Concurrent validity and agreement of Bayley‐4, AIMS, and HINE assessments in 1‐year‐old children
Developmental Medicine &Child Neurology, EarlyView.In this cross‐sectional study of children around 1‐year‐old, the Bayley‐4 showed concurrent validity and moderate to substantial agreement with the AIMS and the HINE in both clinical and home settings. Abstract Aim To examine concurrent validity between the Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley‐4) gross motor subtest ...
Weiyang Deng +14 more
wiley +1 more source
Yonsei Medical Journal, 2017 Left atrial appendage (LAA) occlusion can be employed as an alternative treatment to oral anticoagulation in patients with atrial fibrillation to prevent embolic events. Atrial septal defect (ASD) may be related with right heart dysfunction and allow paradoxical embolism to occur.
Song, Shinjeong +7 more
openaire +3 more sources