Results 101 to 110 of about 14,395 (225)
First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders
Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri +26 more
wiley +1 more source
Pediatric cataract surgery outcomes in Kano, Nigeria
, 2019 Objective: To report the outcomes of pediatric cataract surgery over a 7-year period in a mission hospital in northern Nigeria.Patients and Methods: We retrospectively examined the notes of 230 consecutive children aged 16 years and younger, who ...
Congdon, Nathan +3 more
core +1 more source
Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation
The Laryngoscope, Volume 136, Issue 7, Page 3240-3245, July 2026.We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal +3 more
wiley +1 more source
Polymorphisms of the gamma crystallin A and B genes among Indian patients with pediatric cataract
, 2011 Background: Previous familial studies have reported co-segregation of mutation in gamma crystallin A and B CRYGA and CRYGB genes with childhood cataract.
Kapur, S, Mehra, S, Vasavada, A R.
core +2 more sources
Brain Pathology, Volume 36, Issue 4, July 2026.Proteomics‐guided exome re‐analysis identifies bi‐allelic variants in the nuclear envelope LEMD2 gene, expanding its phenotypic spectrum. Created in BioRender. Pauper, M. (2026) https://BioRender.com/xamvo92.
Marc Pauper +17 more
wiley +1 more source
New-Generation Multifocal Intraocular Lens for Pediatric Cataract.
, 2013 Background/Aims: To evaluate multifocal intraocular lens (MIOL) implantation in children. Methods: This is a retrospective study evaluating refractive, visual and safety results of MIOL in pediatric cataract surgery.
Abouzeid, H., Moetteli, L., Munier, F.
core +1 more source
The Role of Early Visual Experience in Cross‐Signal Dependency Detection
Developmental Science, Volume 29, Issue 4, July 2026.ABSTRACT Temporal co‐occurrence of two sensory signals is a powerful indicator of their potential association. Detection of such coincidences is believed to be a key contributor to perceptual organization and a primary objective of cortical computations. Here, we investigate whether the development of this ability requires early sensory experience.
Priti Gupta +9 more
wiley +1 more source
Toxic anterior segment syndrome subsequent to pediatric cataract surgery
, 2011 Objective: The aim of this study was to investigate possible risk factors and treatment outcomes for the development of toxic anterior segment syndrome (TASS) subsequent to pediatric cataract surgery.
Şeyhmus Ari +7 more
core +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson +1 more
wiley +1 more source
Influence of the vitreolenticular interface in pediatric cataract surgery
, 2018 : Purpose: To report the status of Berger space in pediatric cataract cases and the influence of anterior vitreolenticular interface dysgenesis during primary posterior continuous curvilinear capsulorhexis (PCCC).
Van Looveren, Jan +5 more
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