Results 221 to 230 of about 350,440 (325)

Expression of mutant TIE2 p.L914F during mouse development causes embryonic lethality and defects in vascular remodeling

Developmental Dynamics, EarlyView.
Abstract Background Sporadic venous malformation (VM) is associated with the hyperactivating p.L914F mutation in TIE2, a receptor tyrosine kinase essential for vascular development. This mutation is not found in hereditary VM, suggesting incompatibility with life when expressed during early vascular development.
Lindsay J. Bischoff, Sandra Schrenk, Kara Soroko, Chhiring Sherpa, Ashok Arasu, Damien Reynaud, Elisa Boscolo   +6 more
wiley   +1 more source

AN INDELIBLE "3-OBJECT" COMPARATIVE TEST FOR CENTRAL COLOUR SCOTOMA ALSO IN CASES OF CONGENITAL COLOUR ABNORMALITIES [PDF]

, 1928
S. Holth
openalex   +1 more source

Doppler Phonolyser in Comparison to Conventional Statoscope in Detecting and Interpreting Abnormal heart Murmurs in Congenital and Structural Heart Defects

, 2021
Mohammadreza Naghibi, Behzad Alizadeh, Saeed Aminimoghadam   +2 more
openalex   +2 more sources

Two‐Dimensional Piezoelectric Nanomaterials for Nanoelectronics and Energy Harvesting

ENERGY &ENVIRONMENTAL MATERIALS, EarlyView.
Two‐Dimensional Piezoelectric Nanomaterials from properties to applications. Smart materials, especially piezoelectric materials, have gained popularity over the last two decades. Two‐dimensional (2D) piezoelectric materials exhibit attributes including great flexibility, ease of workability, extensive surface area, and many active sites, indicating ...
Yujun Cao, Sikandar Aftab, Zeeshan Ali, Muhammad Farooq Khan, Ghazanfar Nazir, Awais Khalid, Hosameldin Helmy Hegazy, Ibrahim S. Yahia, Altaf Hussain Rajpar, Burragoni Sravanthi Goud, Jae Hong Kim, Erdi Akman, Xin Li   +12 more
wiley   +1 more source

Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities. [PDF]

Genet Med
Scala M, Khan K, Beneteau C, Fox RG, von Hardenberg S, Khan A, Joubert M, Fievet L, Musquer M, Le Vaillant C, Holsclaw JK, Lim D, Berking AC, Accogli A, Giacomini T, Nobili L, Striano P, Zara F, Torella A, Nigro V, Cogné B, Salick MR, Kaykas A, Eggan K, Capra V, Bézieau S, Davis EE, Wells MF.   +27 more
europepmc   +1 more source

A Rare Case of Mosaic Unbalanced Non-Robertsonian Translocation Involving Chromosomes 15 and 22 with Congenital Abnormalities in Monozygotic Twins. [PDF]

Mol Syndromol, 2020
Atli EI, Atli E, Yalcintepe S, Gurkan H.
europepmc   +1 more source

The effects of sodium–glucose cotransporter 2 inhibitors on the ‘forgotten’ right ventricle

ESC Heart Failure, Volume 12, Issue 2, Page 1045-1058, April 2025.
Abstract With the progress in diagnosis, treatment and imaging techniques, there is a growing recognition that impaired right ventricular (RV) function profoundly affects the prognosis of patients with heart failure (HF), irrespective of their left ventricular ejection fraction (LVEF).
Liangzhen Qu, Xueting Duan, Han Chen
wiley   +1 more source

Cytogenetic Analyses in Ewes with Congenital Abnormalities of the Genital Apparatus. [PDF]

Animals (Basel), 2019
Albarella S, D'Anza E, Galdiero G, Esposito L, De Biase D, Paciello O, Ciotola F, Peretti V.   +7 more
europepmc   +1 more source

A patient with congenital platelet thromboxane A₂ receptor abnormality who underwent minor oral surgery

, 2014
Hideaki Sato, Akira Tanaka, Jun Ueda, Aya Nakagawa, Kaname Sakuma, Yosuke Sato   +5 more
openalex   +2 more sources

Left ventricular diastolic dysfunction worsens prognosis in patients with heart failure due to dilated cardiomyopathy

ESC Heart Failure, Volume 12, Issue 2, Page 1183-1193, April 2025.
Abstract Aims The prognostic significance of left ventricular (LV) diastolic dysfunction (LVDD) severity in patients with dilated cardiomyopathy (DCM) remains uncertain. This study aimed to evaluate the association of LVDD severity and elevated left atrial pressure (eLAP) with patient outcomes in stable, non‐acutely decompensated patients with DCM ...
Mateusz Winiarczyk, Ewa Dziewięcka, Sylwia Wiśniowska‐Śmiałek, Agnieszka Stępień, Katarzyna Graczyk, Agata Leśniak‐Sobelga, Marta Hlawaty, Jakub Woźniak, Maryia Savitskaya, Katarzyna Holcman, Magdalena Kostkiewicz, Piotr Podolec, Paweł Rubiś   +12 more
wiley   +1 more source