Results 201 to 210 of about 115,894 (308)

Left Atrium Cardiac Papillary Fibroelastoma in Patient With Atrial Fibrillation. [PDF]

JACC Case Rep
Gondi S, Dandan M, Hansen JA, Meskin JA.
europepmc   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2519-2524, November 2026.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Case Report: Zero-fluoroscopy retrograde transcatheter closure of a ruptured Sinus of valsalva guided by transesophageal echocardiography. [PDF]

Front Cardiovasc Med
Sakti DDA, Kurniawati Y, Ariani R, Lasanudin LLL, Tombe A, Prakoso R.   +5 more
europepmc   +1 more source

The physiology of lived experiences: A hole in the heart and the dive that found it

Experimental Physiology, EarlyView.
James E. Clark
wiley   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2409-2419, November 2026.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Fetal Agenesis of the Ductus Venosus with Extrahepatic Shunt. [PDF]

CASE (Phila)
Zhang SR, Balasubramanian S, DeWeert K.
europepmc   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2568-2574, November 2026.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Serum Pro-N-Cadherin Correlates With Cardiac Injury in the Radiation Late Effects Cohort of Nonhuman Primates. [PDF]

JACC Adv
Ferrell PD, Neish D, Dugan GO, Schaaf GW, Olson JD, Oristian KM, Michalson KT, Niedzwiecki D, Kitzman D, Register TC, Cline JM, Pizzo SV, Lee CL.   +12 more
europepmc   +1 more source

May the POCUS Be With You! A Call to Radiologists and Sonographers. A Narrative Review

Australasian Journal of Ultrasound in Medicine, Volume 29, Issue 4, November 2026.
ABSTRACT Background Clinicians across many specialties now perform point‐of‐care ultrasonography (POCUS) as a question‐driven bedside examination. Emergency physicians, intensivists, cardiologists (focused cardiac ultrasound), anaesthetists, respiratory physicians, gastroenterologists and gynaecologists all perform bedside scans.
Vijay Manivel, Neha Vijay
wiley   +1 more source