Results 171 to 180 of about 44,744 (292)

Expanding the MRPS34 Genotype–Phenotype Correlation: Two Novel Cases and a Cohort Review

open access: yesJIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT MRPS34 encodes a mitoribosomal protein essential for mitochondrial translation. Biallelic pathogenic variants in MRPS34 cause Combined Oxidative Phosphorylation Deficiency 32 (COXPD32), a rare mitochondrial disorder within the Leigh syndrome spectrum (LSS), ranging from fatal in infancy to adult survival.
Alberte Aspaas Lundquist   +4 more
wiley   +1 more source

Evaluation of Postoperative Discomfort After Strabismus Surgery Under General Anesthesia in Children: A Prospective Observational Study

open access: yes
Yawen Mo,1,* Wenjuan Zhang,1,* Xiangcheng Tang,1 Rui Zhang,2 Yinghuan Wang,1 Lingling Zheng3 1Department of Strabismus and Amblyopia, State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangdong Provincial
Zhang W   +5 more
core  

Ketamine versus propofol for strabismus surgery in children

open access: yes, 2010
Ayse Mizrak1, Ibrahim Erbagci2, Tulin Arici1, Ibrahim Ozcan1, Gurkan Tatar2, Unsal Oner11Anesthesiology and Reanimation, Gaziantep University School of Medicine, Gaziantep, Turkey; 2The Department of Ophthalmology, Gaziantep University School of Medicine,
et al   +3 more
core  

Exploring the Impact of RNU4‐2 Defects on Neurodevelopmental Disorders in a Korean Population

open access: yesClinical Genetics, Volume 110, Issue 1, Page 90-95, July 2026.
Among 15 450 Korean individuals, noncoding RNU4‐2 variants, primarily the recurrent de novo n.64_65insT, make up 0.72% of neurodevelopmental disorders. Modeling and RNA‐seq suggest U4/U6 disruption and abnormal 5′ splice‐site selection, supporting routine use of WGS analysis for reanalyzing unresolved cases. ABSTRACT Neurodevelopmental disorders (NDDs)
Juhyeon Hong   +20 more
wiley   +1 more source

A novel OPHN1 variant associated with cyclic strabismus but in the absence of OPHN1 syndrome. [PDF]

open access: yesSci Rep
Nishina S   +10 more
europepmc   +1 more source

WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

open access: yesClinical Genetics, Volume 110, Issue 1, Page 29-35, July 2026.
In seven individuals heterozygous for loss‐of‐function or conserved missense variants, we demonstrate that loss of WDTC1 function causes a neurodevelopmental syndrome characterized by developmental delay, intellectual disability, and seizures.
Elyssa Smith   +15 more
wiley   +1 more source

Epidemiology of cerebral palsy in Brazil through the lens of the International Classification of Functioning, Disability and Health framework

open access: yesDevelopmental Medicine &Child Neurology, Volume 68, Issue 7, Page 990-1004, July 2026.
This original article is commented on by Cuestas on pages 883‐884 of this issue. Portuguese translation of this Original Article is available in the online issue. Abstract Aim To establish an overall description of people with cerebral palsy (CP) in Brazil, including the epidemiology, clinical features, functioning, and access to rehabilitation and ...
Hércules Ribeiro Leite   +10 more
wiley   +1 more source

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