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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Thrombocytopenia and MYH9[original query]
Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.
Journal of human genetics 2002 1 46 (12): 722-9.
Kunishima S, Matsushita T, Kojima T, Amemiya N, Choi Y M, Hosaka N, Inoue M, Jung Y, Mamiya S, Matsumoto K, Miyajima Y, Zhang G, Ruan C, Saito K, Song K S, Yoon H J, Kamiya T, Saito
Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients.
Haematologica 2004 Oct 89 (10): 1219-25.
Noris Patrizia, Pecci Alessandro, Di Bari Filomena, Di Stazio Maria Teresa, Di Pumpo Michele, Ceresa Iride F, Arezzi Nicoletta, Ambaglio Chiara, Savoia Anna, Balduini Carlo
Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease.
Ear and hearing 2015 Jul .
Verver Eva J J, Topsakal Vedat, Kunst Henricus P M, Huygen Patrick L M, Heller Paula G, Pujol-Moix Nuria, Savoia Anna, Benazzo Marco, Fierro Tiziana, Grolman Wilko, Gresele Paolo, Pecci Alessand
Whole exome sequencing in the diagnostic workup of patients with a bleeding diathesis.
Haemophilia : the official journal of the World Federation of Hemophilia 2018 11 25 (1): 127-135.
Saes Joline L, Simons Annet, de Munnik Sonja A, Nijziel Marten R, Blijlevens Nicole M A, Jongmans Marjolijn C, van der Reijden Bert A, Smit Yolba, Brons Paul P, van Heerde Waander L, Schols Saskia E
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