Results 151 to 160 of about 89,356 (321)

Cardiovascular defects associated with abnormalities in midline development in the Loop-tail mouse mutant [PDF]

, 2001
Anderson, RH, Conway, SJ, Copp, AJ, Gerrelli, D, Greene, NDE, Henderson, DJ, Murdoch, JN   +6 more
core   +1 more source

Isolated absent pulmonary valve with intact ventricular septum in a young child: A rare case report

Annals of Pediatric Cardiology
Absent pulmonary valve syndrome, commonly linked with tetralogy of Fallot and ventricular septal defect, is a rare congenital condition. It is exceedingly rare to have an isolated absent pulmonary valve with an intact ventricular septum without ...
Damandeep Singh, Aprateem Mukherjee, Sanjeev Kumar, Sivasubramanian Ramakrishnan   +3 more
doaj   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

An evaluation of the left atrial/aortic root ratio in children with ventricular septal defect. [PDF]

, 1979
L A Lester, Dolores A. Vitullo, Peter C. Sodt, Nancy Hutcheon, R A Arcilla   +4 more
openalex   +1 more source

Metabolic Stroke: Atypical Presentation of Succinic Semialdehyde Dehydrogenase Deficiency

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive neurometabolic disorder caused by biallelic pathogenic variants in ALDH5A1, encoding the mitochondrial enzyme SSADH. This enzyme catalyses the conversion of succinic semialdehyde to succinic acid in the γ‐aminobutyric acid (GABA) degradation pathway.
Sharmila Kiss, Richard J. Leventer, Cormac Duff, Emma Macdonald‐Laurs, Olivia‐Paris Quinn, Fahaz Nazer, Michelle Cao, Abisha Srikumar, Jenzen Dalina, Mary Eggington, Joy Yaplito‐ Lee   +10 more
wiley   +1 more source

Cardiopulmonary exercise testing in young adults with surgically closed ventricular septal defects and healthy, matched control subjects: a long-term follow-up [PDF]

, 2013
Johan Heiberg, Sussie Laustsen, Petersen A. Krintel, Vibeke E. Hjortdal   +3 more
openalex   +1 more source

Conjoined Parasitic Twins (Cephalo‐Thoracopagus Parasiticus) in a Free Ranging Northern Bat (Eptesicus nilssonii): A Micro‐CT Anatomic and Genetic Survey

Anatomia, Histologia, Embryologia, Volume 55, Issue 2, March 2026.
ABSTRACT The detailed anatomical situation of male stillborn cephalo‐thoracopagus twins in a wild ranging northern bat (Eptesicus nilssonii) is described by means of full body micro‐CT scans in high resolution with three‐dimensional computational reconstruction.
J. Meyer, V. N. Laine, J. van der Kooij, B. Richter, S. Handschuh, M. Gumpenberger   +5 more
wiley   +1 more source

Prenatal diagnosis and postnatal follow-up of congenitally corrected transposition of the great arteries and recurrent supraventricular tachycardia [PDF]

, 2013
The prenatal sonographic diagnosis of congenitally corrected transposition of the great arteries (ccTGA), a rare form of congenital heart disease is very difficult.
Celik, I., Erdem, Sukru, Hallioglu, O., Kibar, Ayse E.   +3 more
core   +1 more source

Ventricular septal defect, developed due to the coronary artery injury after blunt chest trauma in childhood

, 2012
Zehra Karataş, Fatih Şap, Hakan Altın, Hayrullah Alp, Tamer Baysal, Sevim Karaaslan   +5 more
openalex   +1 more source

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

Clinical Genetics, Volume 109, Issue 3, Page 529-538, March 2026.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum, Maya Slovik, Shamir Zenvirt, Ilana Livyatan, Israel Altman, Shiri Gershon, Jonathan Rips, Hagit Daum, Chaggai Rosenbluh, Orly Elpeleg, Vardiella Meiner, Ayala Frumkin, Hagar Mor‐Shaked, Tamar Harel   +13 more
wiley   +1 more source