Results 151 to 160 of about 2,573,157 (336)

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Best Practice Statement for Screening, Assessment and Management of Vision Problems in the First 30 Days after an Acute Stroke [PDF]

, 2013
No abstract ...
Fisher, Emma, Stanley, Jennifer, Tolmie, Elizabeth   +2 more
core  

Day case strabismus surgery without post-operative ocular medication. A masked randomised study [PDF]

, 1987
M. Hagan, W.J. Dinning
openalex   +1 more source

Clinical Approach and Successful Intervention of Congenital Hydrocephalus in Neonatal Calf

Veterinary Medicine and Science, Volume 11, Issue 6, November 2025.
A neonatal calf with congenital hydrocephalus, characterized by a dome‐shaped cranial vault, was treated with gradual drainage of cerebrospinal fluid and a horizontal mattress suture. The calf exhibited neurological improvement following surgery. At 12‐day follow‐up, normal behaviour and growth were observed with no neurological deficits.
Antora Akter, Amir Hamza Masum, Rezwanul Huq, Mahmudul Alam   +3 more
wiley   +1 more source

Short-Term Morpho-Functional Changes before and after Strabismus Surgery in Children Using Structural Optical Coherence Tomography: A Pilot Study

Vision
Purpose: To evaluate the immediate alterations in the thickness of the macular ganglion cell–inner plexiform layer (mGCIPL), peripapillary retinal nerve fiber layer (RNFL), inner retinal layer (IRL), and outer retinal layer (ORL) using spectral domain ...
Pasquale Viggiano, Marida Gaudiomonte, Ugo Procoli, Luisa Micelli Ferrari, Enrico Borrelli, Giacomo Boscia, Andrea Ferrara, Fabio De Vitis, Gemma Scalise, Valeria Albano, Giovanni Alessio, Francesco Boscia   +11 more
doaj   +1 more source

Amblyopia and quality of life: a systematic review [PDF]

Background/Aims Amblyopia is a common condition which can affect up to 5% of the general population. The health-related quality of life (HRQoL) implications of amblyopia and/or its treatment have been explored in the literature.
Carlton, J., Kaltenthaler, E.
core  

Effect of Droperidol Pretreatment on Postanesthetic Vomiting in Children Undergoing Strabismus Surgery [PDF]

, 1986
Jerrold Lerman, S Eustis, Derek Smith
openalex   +1 more source

Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPases

Clinical Genetics, Volume 108, Issue 5, Page 589-593, November 2025.
We report a 2‐year‐old male with clinical features of Takenouchi‐Kosaki syndrome, bilateral colobomas, and a de novo, likely pathogenic missense variant in CDC42. Supportive evidence includes a Cdc42 conditional knock‐out mouse model with colobomas.
Diana Brightman, Nawaal Shinwari, Aleksey Porollo, Eniolami O. Dosunmu, Ehsan Ullah, Bin Guan, Robert B. Hufnagel, Brian P. Brooks, Delphine Blain, Sabine Fuhrmann, Brittany Simpson, Anne M. Slavotinek   +11 more
wiley   +1 more source

METOCLOFRAMIDE REDUCES THE INCIDENCE OF VOMITING FOLLOWING STRABISMUS SURGERY IN CHILDREN [PDF]

, 1988
Lynn M. Broadman, William Cerruzi, Paul S. Patane, Raafat S. Hannallah, U. E. RUTTIMAN, David S. Friendly   +5 more
openalex   +1 more source

Clinical and Neurodevelopmental Characteristics of Paralogous Gain‐of‐Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803

Clinical Genetics, Volume 108, Issue 5, Page 553-565, November 2025.
Key features of paralogous GRIA2 and GRIA3 gain‐of‐function variants. ABSTRACT GRIA‐related disorders arise from disease‐causing variants in GRIA1, GRIA2, GRIA3, or GRIA4 that encode α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazole propionic acid (AMPA)‐type glutamate receptors (AMPARs).
Emilie Sjøstrøm, Dorota Studniarczyk, Xinyao Dou, Rebekka S. Dahl, Vincent Cruz, Heng Wang, Sandra Mercier, Wallid Deb, Thomas Besnard, Jennifer Friedman, Miriam Essid, Sana Karoui, Lamia Ben Jemaa, Thouraya Benyounes, Gaetan Lesca, Davide Tonduti, Maria Iascone, Simona Orcesi, Melanie Fradin, Christèle Dubourg, Silvia Napuri, Stuart G. Cull‐Candy, Ian D. Coombs, Mark Farrant, Allan Bayat   +24 more
wiley   +1 more source