Results 51 to 60 of about 3,615 (173)
Síndrome de Duane: A propósito de 17 casos Duane's syndrome: Apropos of 17 cases
Revista Cubana de Oftalmología, 2002 Se realizó un estudio descriptivo retrospectivo de 17 pacientes con diagnóstico de Síndrome de Duane que asistieron a la consulta de Oftalmología Pediátrica y Estrabismo desde el año 1997 al 2000, donde se analizaron las siguientes variables: sexo, tipo ...
Rosa M Naranjo Fernández +3 more
doaj
Case Reports in Ophthalmology, 2018 Congenital cranial dysinnervation disorders, also known as CCDDs, are characterized by aberrant innervation to extraocular and facial muscles resulting in unusual forms of incomitant strabismus.
Fady Sedarous +2 more
doaj +1 more source
Clinical Genetics, Volume 108, Issue 2, Page 146-155, August 2025.This report described 27 novel subject with CDK13‐related disorders. Collecting the clinical and radiological data, we better define the phenotypic spectrum of this condition and we suggest a comprehensive clinical management. ABSTRACT In 2016, Sifrim and colleagues described the first group of patients carrying heterozygous pathogenic variants in ...
Gianluca Contrò +57 more
wiley +1 more source
Journal of Vegetation Science, Volume 36, Issue 4, July/August 2025.We examine how multi‐species plant invasions shape temperate grassland function in New Zealand. Non‐native species richness is positively associated with the most abundant non‐native species cover, both contributing to higher total non‐native cover. This correlates with community‐weighted traits linked to rapid resource capture and nutrient cycling ...
Insu Jo +5 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 197, Issue 5, May 2025.ABSTRACT Diamond Blackfan anemia (DBA) is an autosomal dominant disorder with a heterogeneous clinical presentation which may include macrocytic anemia typically presenting in the first year of life, growth retardation, and congenital malformations in 30%–50% of patients.
Lisa M. Karger +4 more
wiley +1 more source
Duane Retraction Syndrome and Accompanying Ocular Abnormalities
Beyoglu Eye Journal, 2019 INTRODUCTION[|]Duane retraction syndrome (DRS) is a congenital syndrome characterized by limitation in adduction and/or abduction eye movements and narrowing of the palpebral fissure in adduction, and may include globe retraction, upshoot or downshoot ...
Murat Kocamaz +5 more
doaj +1 more source
Drug Discovery Approaches to Target E3 Ligases
ChemBioChem, Volume 26, Issue 1, January 2, 2025.Comprehensive review presenting the different drug discovery approaches that until now have been employed in academic and pharmaceutical settings to identify new E3 ligase small molecules ligands and contributing to the expansion of the targeted protein degradation field. Abstract Targeting E3 ligases is a challenging area in drug discovery.
Alejandra Rodríguez‐Gimeno +1 more
wiley +1 more source
Journal of Anatomy, Volume 245, Issue 2, Page 217-230, August 2024.Type III collagen is abundant in the endo and perimysium of control patient muscle (A and E) but is downregulated in RD muscle (I and M). Abstract Radial dysplasia (RD) is a congenital upper limb birth defect that presents with changes to the upper limb anatomy, including a shortened or absent radius, bowed ulna, thumb malformations, a radially ...
George R. F. Murphy +5 more
wiley +1 more source
Duane retraction syndrome in a Nigerian child
The Pan African Medical Journal, 2014 We report a case of a four year old Nigerian girl who presented to the paediatric unit of our eye clinic with complaints of a squint on looking to the right side and reduction in the size of the right eye when looking to the left. On examination, she had
Olusola Oluyinka Olawoye +2 more
doaj +1 more source
Is the Pupil Involved in Duane Syndrome? Static and Dynamic Pupillometry Characteristics. [PDF]
Turk J Ophthalmol, 2023 Taylan Şekeroğlu H +3 more
europepmc +1 more source