Works matching Albinism
Results: 2806
Características visuales en el albinismo: Revisión sistemática.
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- Revista de Investigación en Salud VIVE, 2023, v. 6, n. 17, p. 620, doi. 10.33996/revistavive.v6i17.250
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- Article
A comparison of the interactive play behaviours between children with albinism and their siblings and children without albinism and their non-albino siblings.
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- Early Child Development & Care, 2012, v. 182, n. 12, p. 1593, doi. 10.1080/03004430.2011.630074
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- Article
Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.
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- Genes, 2021, v. 12, n. 4, p. 508, doi. 10.3390/genes12040508
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- Article
Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and psychosocial issues.
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- African Journal of Disability, 2022, v. 11, n. 1, p. 1, doi. 10.4102/ajod.v11i0.877
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- Article
Malawian mothers' experiences of raising children living with albinism: A qualitative descriptive study.
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- African Journal of Disability, 2021, v. 10, p. 1, doi. 10.4102/ajod.v10i0.693
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- Article
To Determine the Refractive Status in Albinism & Idiopathic Congenital Nystagmus at Hayatabad Medical Complex, Peshawar.
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- Ophthalmology Update, 2018, v. 16, n. 1, p. 457
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- Article
Genetics of non‐syndromic and syndromic oculocutaneous albinism in human and mouse.
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- Pigment Cell & Melanoma Research, 2021, v. 34, n. 4, p. 786, doi. 10.1111/pcmr.12982
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- Article
NGS‐based targeted resequencing identified rare subtypes of albinism: Providing accurate molecular diagnosis for Japanese patients with albinism.
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- Pigment Cell & Melanoma Research, 2019, v. 32, n. 6, p. 848, doi. 10.1111/pcmr.12800
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- Article
Albinism in Africa: a medical and social emergency.
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- 2015
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- Editorial
Dermatological and Epidemiological Profiles of Patients with Albinism in São Paulo, Brazil, between 2010 and 2017: A Cross-Sectional Study.
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- 2020
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- journal article
Diagnostic Yield of Genetic Testing for Ocular and Oculocutaneous Albinism in a Diverse United States Pediatric Population.
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- Genes, 2023, v. 14, n. 1, p. 135, doi. 10.3390/genes14010135
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- Article
Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.
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- Genes, 2022, v. 13, n. 6, p. 1072, doi. 10.3390/genes13061072
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- Article
The double jeopardy of women with albinism in Ibadan, Nigeria: breaking the unemployment barrier.
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- Disability & Society, 2024, v. 39, n. 7, p. 1747, doi. 10.1080/09687599.2022.2164705
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- Article
Labeling albinism: language and discourse surrounding people with albinism in Tanzania.
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- Disability & Society, 2015, v. 30, n. 8, p. 1143, doi. 10.1080/09687599.2015.1075869
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- Article
Tagging and Tracking of Persons with Albinism: A Reflection of Some Critical Human Rights and Ethical Issues Arising from the Use of the Global Positioning System (GPS) as Part of a Solution to Cracking Down on Violent Crimes Against Persons with Albinism
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- Potchefstroom Electronic Law Journal, 2019, v. 22, p. 1, doi. 10.17159/1727-3781/2019/v22i0a5206
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- Article
"Why Always me?": Childhood Experiences of Family Violence and Prejudicial Treatment against People Living with Albinism in Nigeria.
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- Journal of Family Violence, 2021, v. 36, n. 8, p. 1081, doi. 10.1007/s10896-021-00264-7
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- Article
Partial albinism in Rhinelepis aspera from the Upper Paraná Basin, Brazil, with a review of albinism in South American freshwater fishes.
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- Revista Mexicana de Biodiversidad, 2016, v. 87, n. 2, p. 531, doi. 10.1016/j.rmb.2016.04.005
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- Article
Dealing with the other between the ethical and the moral: albinism on the African continent.
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- 2017
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- journal article
Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease.
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- 2024
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- Case Study
The social information needs of people with albinism (PWA): A case study of Khomas region, Namibia.
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- Information Development, 2024, v. 40, n. 3, p. 429, doi. 10.1177/02666669221141097
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- Article
Masks of Albinism: Clinical Spectrum of Hermansky–Pudlak Syndrome.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 20, p. 11260, doi. 10.3390/ijms252011260
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- Article
Marginalisation and Precarious Circumstances of People with Albinism (PWA): Information Needs and Services.
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- Mousaion, 2021, v. 39, n. 2, p. 1, doi. 10.25159/2663-659X/8673
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- Article
Occipital Petalia and Albinism: A Study of Interhemispheric VEP Asymmetries in Albinism with No Nystagmus.
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- Journal of Clinical Medicine, 2019, v. 8, n. 6, p. 802, doi. 10.3390/jcm8060802
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- Article
The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism.
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- BMC Medicine, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12916-024-03251-z
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- Article
Children with albinism in African regions: their rights to 'being' and 'doing'.
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- BMC International Health & Human Rights, 2018, v. 18, p. 1, doi. 10.1186/s12914-018-0144-8
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- Article
Saccadic instabilities in albinism without nystagmus.
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- Experimental Brain Research, 2006, v. 175, n. 1, p. 45, doi. 10.1007/s00221-006-0522-7
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- Article
Characterizing melanoma in the setting of oculocutaneous albinism: an analysis of the literature.
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- Archives of Dermatological Research, 2023, v. 315, n. 8, p. 2413, doi. 10.1007/s00403-022-02364-w
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- Article
Oculocutaneous albinism: epidemiology, genetics, skin manifestation, and psychosocial issues.
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- Archives of Dermatological Research, 2023, v. 315, n. 2, p. 107, doi. 10.1007/s00403-022-02335-1
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- Article
Albinism: a life of ambiguity – a Zimbabwean experience.
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- African Identities, 2013, v. 11, n. 3, p. 318, doi. 10.1080/14725843.2013.838896
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- Article
A Missense Mutation in SLC45A2 Is Associated with Albinism in Several Small Long Haired Dog Breeds.
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- Journal of Heredity, 2015, v. 106, n. 3, p. 285, doi. 10.1093/jhered/esv008
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- Article
Oculocutaneous Albinism and Consanguineous Marriage among Spanish Gitanos or Calé -A Study of 83 Cases.
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- Collegium Antropologicum, 2013, v. 37, n. 3, p. 723
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- Article
Refractive Errors and Low Vision Rehabilitation in Patients with Oculocutaneous Albinism.
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- Pakistan Journal of Ophthalmology, 2020, v. 36, n. 2, p. 151, doi. 10.36351/pjo.v36i2.978
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- Article
BAP1 mutation in a patient with oculocutaneous albinism.
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- Our Dermatology Online / Nasza Dermatologia Online, 2021, v. 12, n. 3, p. 270, doi. 10.7241/ourd.20213.8
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- Article
OCULOCUTANEOUS ALBINISM COMPLICATED WITH AN ULCERATED PLAQUE.
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- Our Dermatology Online / Nasza Dermatologia Online, 2013, v. 4, n. 2, p. 208, doi. 10.7241/ourd.20132.50
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- Article
Auditory neuropathy spectrum disorder in a child with albinism.
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- Indian Journal of Otology, 2016, v. 22, n. 4, p. 280, doi. 10.4103/0971-7749.192181
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- Article
First record of albinism in the brown sea cucumber Isostichopus fuscus in the Gulf of California, Mexico.
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- Marine Biodiversity Records, 2015, v. 8, p. N.PAG, doi. 10.1017/S1755267214001353
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- Article
Genotypic spectrum of albinism in Mali.
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- Pigment Cell & Melanoma Research, 2024, v. 37, n. 6, p. 752, doi. 10.1111/pcmr.13175
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- Article
Oral levodopa rescues retinal morphology and visual function in a murine model of human albinism.
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- Pigment Cell & Melanoma Research, 2019, v. 32, n. 5, p. 657, doi. 10.1111/pcmr.12782
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- Article
Molecular characterization of a series of 990 index patients with albinism.
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- Pigment Cell & Melanoma Research, 2018, v. 31, n. 4, p. 466, doi. 10.1111/pcmr.12688
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- Article
Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting.
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- Pigment Cell & Melanoma Research, 2018, v. 31, n. 2, p. 318, doi. 10.1111/pcmr.12651
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- Article
Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity.
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- Pigment Cell & Melanoma Research, 2017, v. 30, n. 1, p. 41, doi. 10.1111/pcmr.12546
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- Article
Increasing the complexity: new genes and new types of albinism.
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- Pigment Cell & Melanoma Research, 2014, v. 27, n. 1, p. 11, doi. 10.1111/pcmr.12167
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- Article
Watu kama sisi: they are not ghosts, but just like us – awareness raising about albinism in Tanzanian villages.
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- Journal of Contemporary African Studies, 2022, v. 40, n. 4, p. 561, doi. 10.1080/02589001.2023.2185577
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- Article
Albinism: An Erasable Childhood.
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- Journal of Pan African Studies, 2015, v. 8, n. 2, p. 276
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- Article
The myths surrounding people with albinism in South Africa and Zimbabwe.
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- Journal of African Cultural Studies, 2010, v. 22, n. 2, p. 169, doi. 10.1080/13696815.2010.491412
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- Article
'Visible' yet 'Invisible': A Social Justice Approach to Understanding Access to Education for People with Albinism.
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- Rajagiri Journal of Social Development, 2021, v. 13, n. 2, p. 95
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- Article
Novel Variants of HPS6 Cause Suspected Ocular Albinism: A Report of 2 Cases and the Profile of HPS6 Variants.
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- Ophthalmic Research, 2024, v. 67, n. 1, p. 62, doi. 10.1159/000535788
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- Article
A Patient with Subclinical Oculocutaneous Albinism Type 2 Diagnosed on Getting Severely Sunburned.
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- Dermatology (10188665), 2005, v. 210, n. 4, p. 322, doi. 10.1159/000084758
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- Article
Agentive Intertextual Insertions: (Re)presentation of Albinism in Nwelezelanga: The Star Child’s Subtext.
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- Journal of Humanities & Social Sciences (JHSS), 2022, v. 11, n. 1, p. 46
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- Article
Clinical and Molecular Genetic Characteristics of Patients with Oculocutaneous Albinism Type 1.
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- Russian Journal of Genetics, 2022, v. 58, n. 4, p. 485, doi. 10.1134/S1022795422040056
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- Article