Results 231 to 240 of about 2,203,451 (295)

Expanding the Clinical Spectrum of DHX30‐Related Neurodevelopmental Disorder: A Case Report and a Scoping Review

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Whole exome sequencing (WES) has improved diagnostic rates for neurodevelopmental disorders (NDDs) while introducing challenges in novel variant interpretation. DHX30‐related NDD (DHX30‐NDD) is a recently described condition with an evolving phenotypic spectrum.
Nattaporn Tassanakijpanich, Areerat Hnoonual, Oradawan Plong‐On, Pornprot Limprasert   +3 more
wiley   +1 more source

Transcatheter Closure of a Congenital Gerbode Defect in a Child. [PDF]

JACC Case Rep
Madrid-Marin AL, Vallejo-Mondragón EL, Madrid Pinilla AJ, Arrieta Mendoza ME.   +3 more
europepmc   +1 more source

Cyclin‐dependent kinase 13 is indispensable for normal mouse heart development

Journal of Anatomy, Volume 246, Issue 4, Page 616-630, April 2025.
Congenital heart disease (CHD) is the most common defect in live births. The role of cyclin‐dependent kinase (CDK13) in cardiogenesis and CHD was studied using a transgenic mouse model (Cdk13tm1b) carrying deletion of exons 3 and 4, causing loss of function.
Qazi Waheed‐Ullah, Anna Wilsdon, Aseel Abbad, Sophie Rochette, Frances Bu'Lock, Asma Ali Saed, Marc‐Phillip Hitz, J. David Brook, Siobhan Loughna   +8 more
wiley   +1 more source

Erosion of the Right Atrial Wall After Implantation of a Patch-Like Septal Occluder. [PDF]

JACC Case Rep
Grohmann J, Wilberg Y, Sandica E, Schubert S, Hummel J.   +4 more
europepmc   +1 more source

3D transparent technology displays the developmental patterns of ductus arteriosus morphology in chicken embryos before and after birth

Journal of Anatomy, EarlyView.
At the eighth week of human embryonic development, 3D transparent imaging enables clear visualization of the outflow tract's morphological features, revealing its anatomical components in detail. Abstract The ductus arteriosus (DA) is a critical fetal vascular structure that shunts blood from the pulmonary artery to the aorta, bypassing the non ...
Conghong Xu, Lidi Li, Xiu Wu, Yanli Zhang, Chuanye Wu, Juan Chen, Haihua Gao, Zhenglai Ma   +7 more
wiley   +1 more source

Clinical and Functional Characterization of Gain-of-Function ABL1 Variants Expands the Phenotypic Spectrum of CHDSKM. [PDF]

Am J Med Genet A
Zarate YA, Oh S, Saldana Guzman JE, Matheny JP, Belgarde S, Garzon JP, Prada CE, Trueblood Z, Vera MU, Korotkov KV, Galperin E.   +10 more
europepmc   +1 more source

Innervation of the anal canal revisited through micro‐CT imaging

Journal of Anatomy, EarlyView.
This article demonstrates to utility of micro‐CT imaging for conduction micro‐CT experiments to explore the innervation of the pelvic area in human fetuses. It allows for the creation of intricate 3D models, which show that peripheral nerve crossings occur over the entire length of the rectum and hints towards development and sex related differences in
Daniël Docter, Sophie C. Visser, Marc A. Benninga, Jermo Hanemaaijer‐van der Veer, Marco C. DeRuiter, Joris J.T.H. Roelofs, Joep P. M. Derikx, Justin R. de Jong, Bernadette S. de Bakker, Ramon R. Gorter   +9 more
wiley   +1 more source

Successful Vaginal Delivery in a Young Female With Eisenmenger Syndrome and Double Outlet Right Ventricle: A Challenging Case Report. [PDF]

Case Rep Cardiol
Dahir OF, Ahmed SA, Abdi AE, Abdi IA, Aden AS, Mohamed MM, Waberi MM, Hassan MO.   +7 more
europepmc   +1 more source

The XenCart Protocol: A method for Alcian blue labeling and quantitative analysis of craniofacial cartilage in Xenopus

Journal of Anatomy, EarlyView.
The XenCart Protocol provides a reproducible way to visualize and quantify how the developing craniofacial skeleton responds to experimental perturbation. Embryos are exposed to defined conditions, craniofacial cartilage is stained with Alcian blue, imaged, and analyzed morphometrically.
Umar Aziz, Leona Bhandari, Claudia Lizama, Riya Maurya, Amanda J. G. Dickinson   +4 more
wiley   +1 more source