Results 121 to 130 of about 4,546,141 (355)

Unusual fetal malformations after antiemetics in early pregnancy.

open access: yesBritish medical journal, 1978
Purcell   +5 more
semanticscholar   +1 more source

Genotype–Phenotype Correlation in TTC7A‐Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff   +8 more
wiley   +1 more source

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote   +9 more
wiley   +1 more source

Complications in Endoscopic Sinus Surgery: A TriNetX Network Analysis

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
Abstract Background The potential complications of endoscopic sinus surgery (ESS) remain a critical surgical consideration. This study aims to examine complication rates and identify trends in ESS‐related complications. Methods The TriNetX network was queried for patients undergoing ESS between 2005 and 2024.
Jakob L. Fischer   +8 more
wiley   +1 more source

Prevalence of Venous Sinus Stenosis in Spontaneous Cerebrospinal Fluid Leak and the Role for Venous Sinus Stenting: A Systematic Review and Meta‐Analysis

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Given the association between spontaneous cerebrospinal fluid (sCSF) leak and idiopathic intracranial hypertension (IIH), and the association of IIH and venous sinus stenosis (VSS), we sought to determine the prevalence of VSS in sCSF leak and the role of venous sinus stenting for sCSF leak.
Jenny B. Xiao   +6 more
wiley   +1 more source

Adeno‐associated virus serotype 2 capsid variants for improved liver‐directed gene therapy

open access: yesHepatology, EarlyView., 2022
Abstract Background and Aims Current liver‐directed gene therapies look for adeno‐associated virus (AAV) vectors with improved efficacy. With this background, capsid engineering is explored. Whereas shuffled capsid library screenings have resulted in potent liver targeting variants with one first vector in human clinical trials, modifying natural ...
Nadja Meumann   +25 more
wiley   +1 more source

Home - About - Disclaimer - Privacy