Results 131 to 140 of about 140,126 (358)

Coexistence of antithrombin deficiency and suspected inferior vena cava atresia in an adolescent and his mother – case report and clinical implications [PDF]

open access: gold, 2021
Merle Müller-Knapp   +9 more
openalex   +1 more source

Human Cyclophilins—An Emerging Class of Drug Targets

open access: yesMedicinal Research Reviews, EarlyView.
ABSTRACT Cyclophilins are a family of enzymes with peptidyl‐prolyl isomerase activity found in all cells of all organisms. To date, 17 cyclophilin isoforms have been identified in the human body, participating in diverse biological processes. Consequently, cyclophilins have emerged as promising targets for drug development to address a wide array of ...
Katarina Jurkova   +3 more
wiley   +1 more source

Correction of Tetralogy of Fallot and of Pulmonary Atresia with Ventricular Septal Defect in Adults [PDF]

open access: bronze, 2005
Jürgen Hörer   +6 more
openalex   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa   +7 more
wiley   +1 more source

Fetal Diagnosis of Hypoplastic Left Heart Syndrome With Restrictive Atrial Septum—Atrial Septal Morphology, Associated Lung Disease and Outcomes

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective Fetuses with hypoplastic left heart syndrome (HLHS) and restrictive/intact atrial septum (RAS) have high mortality, partly due to pulmonary lymphangiectasia (PL). This study aimed to characterize atrial septal morphology in fetuses with HLHS and RAS and evaluate the impact of fetal intervention on PL and outcomes.
Sofie Dannesbo   +9 more
wiley   +1 more source

Epidemiological characteristics of live births with esophageal atresia in Sao Paulo State, Brazil, from 2005 to 2018 [PDF]

open access: diamond, 2022
Emilli Freitas Silvestri   +4 more
openalex   +1 more source

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of exome sequencing (ES) in isolated polyhydramnios. Methods This retrospective study included 40 cases of isolated polyhydramnios. All patients underwent screening for gestational diabetes mellitus (GDM) and chromosomal microarray analysis (CMA).
Vered Offen Glassner   +11 more
wiley   +1 more source

Growth hormone on ovarian morphology of lambaris (Astyanax bimaculatus) after induced spawning

open access: yesCiência Rural
: Lambari, Astyanax bimaculatus, is an oviparous, multiple-spawning fish that is reproductively active throughout the year, which makes it promising for cultivation and research.
Lucas Marcon   +4 more
doaj   +1 more source

Prenatal Diagnosis to Postnatal Outcomes of Saccular Forms of Closed Spina Dysraphism: A Single Center Retrospective Study

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe prenatal imaging findings and postnatal outcomes in fetuses diagnosed with saccular forms of closed spinal dysraphism (CSD). Methods This retrospective single‐centre study included fetuses diagnosed with non‐genetic, non‐syndromic CSD between January 2018 and June 2023.
Yada Kunpalin   +8 more
wiley   +1 more source

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