Results 121 to 130 of about 21,367 (237)

گزارش اولين مورد سندرم فاميلی آلبينيسم چشمی ـ پوستی نوزادی در همراهی با سندرم [PDF]

, 2007
مقدمه: آلبينيسم شامل گروهی از شرايط بالينی می‌باشد که به صورت ارثی منتقل می‌گردند. در مبتلايان به بيماری، رنگدانه ملانين در چشم، پوست و مو، کم است يا وجود ندارد.
خالصی, نسرین, صالحی, فرود, کشاورز, کامبیز   +2 more
core  

Impact of obesity with impaired glucose tolerance on retinal degeneration in a rat model of metabolic syndrome. [PDF]

, 2017
PurposeMetabolic syndrome (MetS) is associated with several degenerative diseases, including retinal degeneration. Previously, we reported on progressive retinal degeneration in a spontaneous obese rat (WNIN/Ob) model.
Ayyagari, Radha, Godisela, Kishore Kumar, Jablonski, Monica M, Kumar, Chekkilla Uday, Reddy, Geereddy Bhanuprakash, Reddy, Paduru Yadagiri, Reddy, Singareddy Sreenivasa, Saravanan, Natarajan   +7 more
core  

Hear my voice: a community-based participatory study gathering the lived experiences of people with disabilities and older people in Tanzania [PDF]

, 2017
This is the final version of the article. Available from the publisher via the URL in this record.This study provides evidence on the specific nature and experiences of people with disabilities and older people from their own perspectives in rural and ...
Bechange, , S, Fakih, B, Greenwood, M, Mwifadhi, , M, Steff, , M   +4 more
core  

After an initial Hermansky–Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report

Molecular Genetics & Genomic Medicine
Background Albinism is a heterogeneous condition in which patients present complete absence, reduction, or normal pigmentation in skin, hair and eyes in addition to ocular defects.
Joseline Serrano‐González, Ingrid Montes‐Rodríguez, Jessicca Y. Renta, Ricardo Rojas, Carmen L. Cadilla   +4 more
doaj   +1 more source

The impact of stigma on people with albinism in Africa: a narrative review. [PDF]

J Community Genet
Kromberg JG, Kerr RA.
europepmc   +1 more source

Cataract surgery with implantation of small aperture acrylic hydrophobic IOL to reduce photophobia in a patient affected by oculocutaneous albinism. [PDF]

Am J Ophthalmol Case Rep
Mularoni A, Mularoni K, Gaudenzi D, Mussoni G, Ravagli V, Gaudenzi F, Forlini M, Mautone L.   +7 more
europepmc   +1 more source

Albinism

Citation: 'albinism' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.10354 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms. Requests for commercial usage
openaire   +2 more sources

Sentinel Nystagmus: The Key to Identifying Type II Oculocutaneous Albinism (OCA2) in the Pediatric Setting. [PDF]

Case Rep Pediatr
Niknam J, Petrosyan A, Agustin V, Shoubaki A.   +3 more
europepmc   +1 more source

Griscelli syndrome type 2: A rare case report of pediatric immunodeficiency and neurological implications. [PDF]

Medicine (Baltimore)
Abubakir M, Abdul Rahman N, Hamza A, Haj Kasem S, Khayata MA, Kouja D.   +5 more
europepmc   +1 more source

Synopsis of the Nepidae of Arkansas [PDF]

, 1985
Harp, George L.
core   +2 more sources