Results 231 to 240 of about 97,306 (377)

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

Treatment of Single Patient With PMM2‐Congenital Disorder of Glycosylation With Govorestat (AT‐007), an Aldose Reductase Inhibitor

JIMD Reports, Volume 66, Issue 6, November 2025.
ABSTRACT Aldose reductase inhibitors (ARI) have been identified as a potential treatment for phosphomannomutase‐2 congenital disorder of glycosylation (PMM2‐CDG), a serious condition for which no treatments are approved. We treated a single patient for 36 months 30 months of age at enrollment, under a single‐patient investigational new drug expanded ...
Elizabeth R. Jalazo, Leigh Anne Weisenfeld, Anna Ligezka, Riccardo Perfetti, Joseph Muenzer   +4 more
wiley   +1 more source

A Novel Virtual Reality-Based System for Measuring Deviation Angle in Strabismus: A Prospective Study. [PDF]

Diagnostics (Basel)
Lu JY, Liu YC, Lu JB, Tsai MH, Liao WL, Wang IM, Lin HJ, Huang YT.   +7 more
europepmc   +1 more source

Management of non-paralytic strabismus in infants, with special reference to esotropia. [PDF]

, 1977

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

Assessment of Ocular Torsion in Exotropic Patients Following Horizontal Strabismus Surgery: A Comparative Analysis Using Conventional Color Fundus Photography and Spectralis Optical Coherence Tomography. [PDF]

J Ophthalmol
Abri Aghdam K, Abtahi ZA, Zand A, Soltan Sanjari M, Sadeghi A, Zare Hosseinabadi V, Sonbolestan SA.   +6 more
europepmc   +1 more source

STRABISMUS, ORTHOPTICS AND OPTOMETRY

, 1958
Meredith W. Morgan
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

Immune Recovery Uveitis: Pathogenesis, Clinical Symptoms, and Treatment

Mediators of Inflammation, 2014
Beata Urban, Alina Bakunowicz-Łazarczyk, Marta Michalczuk   +2 more
doaj   +1 more source

Strabismus profile in a tertiary eye care center in Manipur. [PDF]

Indian J Ophthalmol
Devi CS, Akthar G, Singh TA.
europepmc   +1 more source