Results 31 to 40 of about 8,486 (241)
Congenital double elevator palsy with sensory exotropia: A unique surgical management
Journal of Ophthalmic & Vision Research, 2017 Purpose: To report a unique surgical approach for congenital double elevator palsy with sensory exotropia. Case Report: A 7-year-old boy with congenital double elevator palsy and sensory exotropia was managed surgically by Callahan's procedure with ...
R C Nagpal, Anuradha Raj, Amit Maitreya
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates +6 more
wiley +1 more source
Delhi Journal of Ophthalmology, 2021 Purpose: To study the different types of concomitant strabismus and associated refractive errors in children and adolescents. Material & Methods: In this observational study, 178 patients aged between 4-19 yrs with concomitant strabismus of ≥ 15 Prism ...
Anupam Singh +7 more
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes +3 more
wiley +1 more source
Clinical Genetics, EarlyView.To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum +13 more
wiley +1 more source
Strengthening community‐based fisheries monitoring programs with Indigenous perspectives
Conservation Biology, EarlyView.Abstract Community‐based monitoring (CBM) programs are increasingly recognized as essential for adaptive environmental stewardship. Yet, the CBM literature often highlights successful cases and privileges evaluations by external experts over those of community members themselves.
Kanwaljeet Dewan +2 more
wiley +1 more source
Clinical trajectories and medication response in TBC1D24‐related epilepsies
Epilepsia, EarlyView.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
Fish and Fisheries, EarlyView.ABSTRACT Measures of an organism's weight at a given length are often considered reliable indicators of energy reserves or ‘condition’, which can be related to fecundity and risk of mortality. Understanding the impact of environmental change on fish condition may therefore inform sustainable management of human activities in marine ecosystems.
Philina A. English +2 more
wiley +1 more source
A review of 5 years exotropia surgery outcome in Songklanagarind Hospital
Journal of Health Science and Medical Research (JHSMR), 2009 Objective: To study the outcomes and factors of muscle surgery for exotropia at Songklanagarind Hospital. Material and Methods: A review was made of medical records for patients who had muscle surgery for exotropia between January 1999 and December 2003.
S. Burachokeviwat +2 more
doaj
Journal of Ophthalmology, 2016 Purpose. To evaluate the distribution pattern and changes of strabismus surgery in children based on the data collected from a local eye hospital in the south of China between 2006 and 2011. Methods.
Xinping Yu +4 more
doaj +1 more source