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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Nov 8, 2024. (Total: 233355Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Syndrome and HPS3[original query]
Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico.
The Journal of investigative dermatology 2006 Jan 126 (1): 85-90.
Santiago Borrero Pedro J, Rodríguez-Pérez Yolanda, Renta Jessicca Y, Izquierdo Natalio J, Del Fierro Laura, Muñoz Daniel, Molina Norma López, Ramírez Sonia, Pagán-Mercado Glorivee, Ortíz Idith, Rivera-Caragol Enid, Spritz Richard A, Cadilla Carmen
NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients.
Pigment cell & melanoma research 2016 Sep .
Wei Aihua, Yuan Yefeng, Bai Dayong, Ma Jing, Hao Zhenhua, Zhang Yingzi, Yu Jiaying, Zhou Zhiyong, Yang Lin, Yang Xiumin, Li Li, Li W
Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome.
Pigment cell & melanoma research 2018 11 32 (3): 373-380.
Wei Aihua, Yuan Yefeng, Qi Zhan, Liu Teng, Bai Dayong, Zhang Yingzi, Yu Jiaying, Yang Lin, Yang Xiumin, Li W
Effects of Cocoa Genotypes on Coat Color, Platelets and Coagulation Parameters in French Bulldogs.
Genes 2021 8 12 (7): .
Laukner Anna, Truchet Laura, Manukjan Georgi, Schulze Harald, Langbein-Detsch Ines, Mueller Elisabeth, Leeb Tosso, Kehl Alexand
Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the HPS3 gene.
Frontiers in genetics 2022 9 13 936064.
Marek-Yagel Dina, Abudi-Sinreich Shachar, Macarov Michal, Veber Alvit, Shalva Nechama, Philosoph Amit Mary, Pode-Shakked Ben, Malicdan May Christine V, Anikster Ya
High-throughput microfluidic blood testing to phenotype genetically linked platelet disorders: an aid to diagnosis.
Blood advances 2023 6 .
Delia Irene Fernández, Isabella Provenzale, Matthias Canault, Salome Fels, Antonia Lenz, Felicia Andresen, Anne Krümpel, Arnaud Dupuis, Johan W M Heemskerk, Doris Boeckelmann, Barbara Maria Hildegard Zieg
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