Results 71 to 80 of about 65,918 (263)
Movement Disorders Clinical Practice, EarlyView.Abstract Background Variants in AFG3‐Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene.
Sangeetha Yoganathan +14 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
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To investigate the genetic etiologies and clinical significance of fetal tympanic ring abnormalities detected during second‐trimester ultrasound in the absence of microtia. Method Between November 2019 and June 2024, we examined the fetal tympanic rings of 10,277 unselected pregnant women during the 20–22 weeks of morphology ...
Yung Hang Lam +5 more
wiley +1 more source
Delhi Journal of Ophthalmology, 2019 Congenital ectropion uveae is a rare disorder resulting from proliferation of iris pigment epithelium on the anterior surface of iris. We describe a case of a 28-year-old female presenting with diminution of vision in the left eye.
V.K. Harshavardhan +3 more
doaj +1 more source
ARL3 mutations cause Joubert syndrome by disrupting ciliary protein composition [PDF]
, 2018 Joubert syndrome (JBTS) is a genetically heterogeneous autosomal recessive neurodevelopmental ciliopathy. We investigated further the underlying genetic etiology of Joubert syndrome by studying two unrelated families in whom JBTS was not associated ...
Alhashem, Amal +18 more
core +1 more source
Journal of Forensic Sciences, EarlyView.Abstract Hair analysis is a well‐established matrix in forensic toxicology, offering a valuable alternative or complement to traditional matrices in diverse contexts, including drug‐facilitated crimes (DFC), elder abuse, and accidental exposure in children.
Amandine Fort +8 more
wiley +1 more source
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features. [PDF]
, 2015 BackgroundCohen Syndrome (COH1) is a rare autosomal recessive disorder, principally identified by ocular, neural and muscular deficits. We identified three large consanguineous Pakistani families with intellectual disability and in some cases with ...
Ali, Ghazanfar +29 more
core +2 more sources
Periareolar augmentation mastopexy: A new approach dealing with the cases as tuberous breasts
Indian Journal of Plastic Surgery, 2016 Background: Periareolar augmentation mastopexy is one of the most demanded operations at Plastic Surgery clinics. Nevertheless, it is one of the leads of malpractice claims in United States caused by the high patient expectations and the standard ...
Roberto Moltó-García +4 more
doaj +1 more source
Association of Disease Location and Treatment With Survival in Diffuse Large B-Cell Lymphoma of the Eye and Ocular Adnexal Region. [PDF]
, 2017 Importance: Primary diffuse large B-cell lymphoma (DLBCL) of the ocular region is rare, and the utility of surgery and radiation therapy remains unresolved.
Ahmed, Aseef H H. +2 more
core +2 more sources