Results 71 to 80 of about 2,854 (209)
Molecular Genetics &Genomic Medicine, Volume 14, Issue 3, March 2026.A rare homozygous variant in the PGM2L1 gene (NM_173582.6: c.1673delC, p.Thr558Ilefs*19) was identified in a patient presenting with developmental delay, seizures, and bilateral frontotemporal subarachnoid widening. ABSTRACT Background PGM2L1 gene variants are associated with developmental delays, seizures, and various neurological and physical ...
Mengmeng Niu, Dong Wang, Shanshan Jia
wiley +1 more source
Mean results for the intermittent exotropia (IXT) group.
, 2020 Mean results for the intermittent exotropia (IXT) group.
Takeshi Morimoto (540391) +9 more
core +1 more source
, 2022 Background Aim of this study was to evaluate the efficacy of a novel algorithm to customise overminus lens therapy in intermittent exotropia (IXT) based on clinical factors associated with control of the deviation. Methods Clinical parameters in IXT
Jit B. Ale Magar +9 more
core +1 more source
British and Irish Orthoptic Journal, 2011 Aim: To report a case of arachnoid cyst incidentally detected in a child who initially presented with concomitant intermittent right exotropia that progressed to incomitancy.
Yen Harn Yew +2 more
doaj +1 more source
Clinical trajectories and medication response in TBC1D24‐related epilepsies
Epilepsia, Volume 67, Issue 3, Page 1386-1397, March 2026.Abstract Objective Biallelic variants in TBC1D24 represent a rare cause of epilepsy and neurodevelopmental disorders, including severe developmental and epileptic encephalopathies. Here, we present the first attempt to delineate the longitudinal disease histories and effectiveness of antiseizure medications (ASMs) in TBC1D24‐related disorders.
Ealing Mondragon +9 more
wiley +1 more source
Mean results for the intermittent exotropia (IXT) subgroup.
, 2020 Mean results for the intermittent exotropia (IXT) subgroup.
Takeshi Morimoto (540391) +9 more
core +1 more source
Health‐related quality of life of children with strabismus
Acta Ophthalmologica, Volume 104, Issue 1, Page 82-88, February 2026.Abstract Purpose The agreement between children with strabismus and their parents on the health‐related quality of life (HRQOL) of the child is unknown. Additionally, it is unknown if physical traits pre‐dispose to a better outcome in HRQOL after strabismus surgery in children.
Lena Boulakh +5 more
wiley +1 more source
Driving Innovation: The Impact of National Health Policies on Optometry Research in East Asia
The International Journal of Health Planning and Management, Volume 41, Issue 1, Page 37-46, January 2026.ABSTRACT This study examines the optometric research landscape in three East Asian countries—China, Japan, and Korea—analysing how research trends align with each country's national health strategies. By evaluating published articles and reviews from national journals between 2006 March 2025, we identify key areas of focus, including paediatric ...
Jihye Ahn, Moonsung Choi
wiley +1 more source
P3-4: Binocular Visual Acuity in Exotropia
i-Perception, 2012 Purpose: To investigate binocular interaction of visual acuity in patients with intermittent exotropia and its relationship with accommodative responses during binocular vision.
Heekyung Yang +2 more
doaj +1 more source
Case Reports in Genetics, Volume 2026, Issue 1, 2026.Malan syndrome is a rare overgrowth disorder caused by deletions or pathogenic variants in the NFIX gene. Here, we present the case of a Japanese male infant with Malan syndrome, which was caused by a novel frameshift variant resulting from an eight‐base insertion in Exon 2 of the NFIX gene.
Toshihiko Mori +5 more
wiley +1 more source