Results 71 to 80 of about 70,653 (310)
Prenatal 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
Clinical Ophthalmology, 2017 Abraham J Park,1 Babak Eliassi-Rad,2 Manishi A Desai2 1Moyes Eye Center, Department of Ophthalmology, 2Boston Medical Center, Department of Ophthalmology, Boston, MA, USA Purpose: Evaluate factors contributing to ptosis after glaucoma surgery. Methods:
Park AJ, Eliassi-Rad B, Desai MA
doaj
Comparative study between local and general anesthesia in the management of sever blepharoptosis by use of straight needle threading technique as frontalis suspension [PDF]
The Medical Journal of Basrah University, 2017 Aim: is to compare between the outcome and complications in the use of local and general anesthesia in the management of sever blepharoptosis by use of straight needle threading technique and silk suture as a frontalis suspension.
Amer S. Al Mansory
doaj +1 more source
A case series of robotic nipple‐sparing mastectomy with implant reconstruction in mutation carriers
Surgical Practice, EarlyView.Abstract Objective To evaluate the safety, feasibility and outcomes of robotic‐assisted nipple‐sparing mastectomy (RNSM) with immediate implant reconstruction in women carrying hereditary breast cancer–associated mutations. Methodology Between August 2019 and July 2025, women with germline BRCA1, BRCA2 or TP53 mutations and low perioperative risk were ...
Yuk‐Kwan Chang, Ava Kwong
wiley +1 more source
Requirement for DNA Ligase IV during Embryonic Neuronal Development [PDF]
, 2011 The embryonic ventricular and subventricular zones (VZ/SVZ) contain the neuronal stem and progenitor cells and undergo rapid proliferation. The intermediate zone (IZ) contains nonreplicating, differentiated cells.
Carr, Antony M +7 more
core +1 more source
Congenital aniridia: European COST action ANIRIDIA‐NET guidelines for diagnosis, management and care
Acta Ophthalmologica, EarlyView.Abstract Congenital aniridia is a rare ocular disorder affecting the majority of eye structures and can be associated with systemic manifestations. The main visible phenotypic characteristic is the partial or complete absence of the iris; however, foveal hypoplasia is a more frequent and reliable clinical sign. Other ocular comorbidities are associated
Davide Romano +26 more
wiley +1 more source
Clinical Genetics, EarlyView.This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau +7 more
wiley +1 more source
Cluster headache in Greece: an observational clinical and demographic study of 302 patients. [PDF]
, 2016 BackgroundCluster headache (CH) is considered the most excruciating primary headache syndrome; although much less prevalent than migraine, it is not rare as it affects more than 1/1000 people.
Rapoport, Alan M, Vikelis, Michail
core +1 more source
Vitamin C inhibits endothelial cell apoptosis in congestive heart failure [PDF]
, 2007 Background - Proinflammatory cytokines like tumor necrosis factor- and oxidative stress induce apoptotic cell death in endothelial cells (ECs). Systemic inflammation and increased oxidative stress in congestive heart failure (CHF) coincide with enhanced ...
Aicher, A +9 more
core +1 more source