Results 171 to 180 of about 682,776 (395)

Ophthalmological Complications of Multiple Myelomatosis [PDF]

, 1955
Edward Clarke
openalex   +1 more source

Phenotypical and Genotypical Expansion of Autosomal‐Dominant KDM1A‐Related Neurodevelopmental Disorder Spectrum: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KDM1A‐related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra‐rare autosomal dominant disorder is limited. Here, we report on a 13‐year‐old boy with a novel heterozygous, likely pathogenic germline missense variant
Sebastian Burkart, Melanie Spanjaard, Lilian Kaufmann, Katrin Hinderhofer, Christian P. Schaaf, Markus Ries, Maja Hempel   +6 more
wiley   +1 more source

Systemic Ophthalmology [PDF]

, 1958

openalex   +1 more source

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source

Prevalence and distribution of dry eye disease among patients with type 2 diabetes in Kosovo

Italian Journal of Medicine
This study aimed to assess the prevalence and selected correlates of dry eye disease (DED) among patients with type 2 diabetes in Kosovo. A case-series study was conducted in Kosovo from July 2023 to July 2024, including a consecutive sample of 400 ...
Drilon Zekaj, Naim Jerliu, Floriana Kukaj-Zekaj, Ali Tonuzi   +3 more
doaj   +1 more source

Transactions of the Ophthalmological Society of the United Kingdom [PDF]

, 1947
William M. James
openalex   +1 more source

Artificial intelligence and deep learning in ophthalmology: Current status and future perspectives

Advances in Ophthalmology Practice and Research, 2022
Kai Jin, J. Ye
semanticscholar   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Pediatric ophthalmology: The oldest ophthalmology subspeciality

Indian Journal of Ophthalmology, 2011
S Natarajan
doaj   +1 more source

School of Ophthalmology [PDF]

, 1919
Major Meyer Wiener
openalex   +1 more source