Human Genome Epidemiology Literature Finder
Records 1 - 9 (of 9 Records) |
Query Trace: HPS3[original query] |
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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 |
Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia. PloS one 2020 6 15 (6): e0234246. Zhang Rong, Gehlen Jan, Kawalia Amit, Melissari Maria-Theodora, Dakal Tikam Chand, Menon Athira M, Höfele Julia, Riedhammer Korbinian, Waffenschmidt Lea, Fabian Julia, Breuer Katinka, Kalanithy Jeshurun, Hilger Alina Christine, Sharma Amit, Hölscher Alice, Boemers Thomas M, Pauly Markus, Leutner Andreas, Fuchs Jörg, Seitz Guido, Ludwikowski Barbara M, Gomez Barbara, Hubertus Jochen, Heydweiller Andreas, Kurz Ralf, Leonhardt Johannes, Kosch Ferdinand, Holland-Cunz Stefan, Münsterer Oliver, Ure Beno, Schmiedeke Eberhard, Neser Jörg, Degenhardt Petra, Märzheuser Stefanie, Kleine Katharina, Schäfer Mattias, Spychalski Nicole, Deffaa Oliver J, Gosemann Jan-Hendrik, Lacher Martin, Heilmann-Heimbach Stefanie, Zwink Nadine, Jenetzky Ekkehart, Ludwig Michael, Grote Phillip, Schumacher Johannes, Thiele Holger, Reutter Hei |
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 |
NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism. BMC genomics 2022 4 23 (1): 332. Xiao Yuanyuan, Zhou Cong, Xie Hanbing, Huang Shuang, Wang Jing, Liu Shanli |
Analyzing the key gene expression and prognostics values for acute myeloid leukemia. Translational cancer research 2022 2 9 (11): 7284-7298. Shi Lingling, Huang Yan, Huang Xunjun, Zhou Weijie, Wei Jie, Deng Donghong, Lai Yongro |
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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- Page last updated:Apr 22, 2024
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