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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 7, 2024. (Total: 234175Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Hypopigmentation and GPR143[original query]
Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism.
Molecular vision 2011 17 .
Preising MN, Forster H, Gonser M, Lorenz B
Clinical evaluation and molecular screening of a large consecutive series of albino patients.
Journal of human genetics 2016 Oct .
Mauri Lucia, Manfredini Emanuela, Del Longo Alessandra, Veniani Emanuela, Scarcello Manuela, Terrana Roberta, Radaelli Adriano Egidio, Calò Donata, Mingoia Giuseppe, Rossetti Antonella, Marsico Giovanni, Mazza Marco, Gesu Giovanni Pietro, Cristina Patrosso Maria, Penco Silvana, Piozzi Elena, Primignani Pao
Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting.
Pigment cell & melanoma research 2017 10 31 (2): 318-329.
Marti Aurélie, Lasseaux Eulalie, Ezzedine Khaled, Léauté-Labrèze Christine, Boralevi Franck, Paya Clément, Coste Valentine, Deroissart Vincent, Arveiler Benoit, Taieb Alain, Morice-Picard Fan
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