-
1دورية أكاديمية
المؤلفون: Li, Xue, Wang, Wei, Ni, Xuefeng, Cheng, DongruiAff1, IDs40620023016517_cor4, Chen, JinsongAff1, IDs40620023016517_cor5
المصدر: Journal of Nephrology. 36(6):1707-1709
-
2كتاب إلكتروني
المؤلفون: Woods, Gary M.Aff6, Aff7, Kumar, RitenAff8, Aff9
المساهمون: Dunn, Amy L., editorAff1, Kerlin, Bryce A., editorAff2, O'Brien, Sarah H., editorAff3, Rose, Melissa J., editorAff4, Kumar, Riten, editorAff5
المصدر: Pediatric Bleeding Disorders : A Clinical Casebook. :195-203
-
3دورية أكاديمية
المؤلفون: Tazegul, GokhanAff1, IDs12308022004895_cor1, Atas, Unal, Yücel, Orhan Kemal, Salim, Ozan, Ündar, Levent
المصدر: Journal of Hematopathology. 15(2):111-112
-
4دورية أكاديمية
المؤلفون: Ye Jee Shim
المصدر: Clinical and Experimental Pediatrics, Vol 63, Iss 3, Pp 79-87 (2020)
مصطلحات موضوعية: blood platelet disorders, thrombasthenia, bernard-soulier syndrome, gray platelet syndrome, platelet storage pool deficiency, myh9-related disorders, Pediatrics, RJ1-570
وصف الملف: electronic resource
-
5دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
6دورية أكاديمية
المؤلفون: Marković Olivera, Martinović Tamara, Ćirić Darko, Trpinac Dušan, Čemerikić-Martinović Vesna, Bumbaširević Vladimir, Bila Jelena, Marisavljević Dragomir, Kravić-Stevović Tamara
المصدر: Vojnosanitetski Pregled, Vol 76, Iss 7, Pp 740-744 (2019)
مصطلحات موضوعية: blood platelet, congenital abnormalities, microscopy, electron, myh9-related disorders, spleen, Medicine (General), R5-920
وصف الملف: electronic resource
-
7دورية أكاديمية
المؤلفون: Ilaria Amodeo, Genny Raffaeli, Federica Vianello, Giacomo Cavallaro, Valeria Cortesi, Francesca Manzoni, Giacomo S. Amelio, Silvia Gulden, Fabio Mosca, Stefano Ghirardello
المصدر: Children, Vol 8, Iss 10, p 878 (2021)
مصطلحات موضوعية: May–Hegglin anomaly, MYH9-related disorders, congenital thrombocytopenia, macrothrombocytopenia, viscoelastic test, Pediatrics, RJ1-570
وصف الملف: electronic resource
-
8دورية أكاديمية
المؤلفون: Garcia-Horton, AlejandroAff1, Aff2, Chin-Yee, Ian, Lam, Selay
المصدر: International Journal of Hematology. 112(2):139-140
-
9
المؤلفون: Giacomo Cavallaro, Fabio Mosca, Valeria Cortesi, Ilaria Amodeo, Genny Raffaeli, Silvia Gulden, Federica Vianello, Francesca Manzoni, Giacomo S. Amelio, Stefano Ghirardello
المصدر: Children, Vol 8, Iss 878, p 878 (2021)
Childrenمصطلحات موضوعية: Pediatrics, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Case Report, MYH9-related disorders, medicine.disease, Asymptomatic, Thromboelastography, RJ1-570, May–Hegglin anomaly, Bleeding diathesis, Platelet transfusion, congenital thrombocytopenia, Pediatrics, Perinatology and Child Health, medicine, macrothrombocytopenia, Gestation, viscoelastic test, Platelet, Monochorionic twins, medicine.symptom, business
-
10
المؤلفون: Daniel Duarte, Mariana Bonduel, Sri V V Deevi, Kathleen Stirrups, Paolo Gresele, David Allsup, Rutendo Mapeta, Jonathan Stephens, Tadbir K. Bariana, Kathleen Freson, Nihr BioResource, Ernest Turro, Kim Elliott, Nicola Curry, David Keeling, D. J. Perry, Kate Downes, Carolyn M. Millar, Luigi Grassi, Keith Gomez, Nora Butta, Ilenia Simeoni, Emanuela Falcinelli, Peter William Collins, Michele P. Lambert, Christopher J. Penkett, Loredana Bury, John K. Wu, Nick Gleadall, Karina Althaus, Daniel Greene, Bruce Furie, Willem H. Ouwehand, Rachel Linger, Sarah K Westbury, Karyn Megy, Sarah Mangles
المساهمون: Megy, Karyn [0000-0002-2826-3879], Stephens, Jonathan [0000-0003-2020-9330], Downes, Kate [0000-0003-0366-1579], Johnson, Kathleen [0000-0002-6823-3252], Turro Bassols, Ernest [0000-0002-1820-6563], Ouwehand, Willem [0000-0002-7744-1790], Simeoni, Ilenia [0000-0001-5039-2194], Apollo - University of Cambridge Repository
المصدر: Human Mutation
Bury, L, Megy, K, Stephens, J C, Grassi, L, Greene, D, Gleadall, N, Althaus, K, Allsup, D, Bariana, T, Bonduel, M, Butta, N, Collins, P, Curry, N, Deevi, S V V, Downes, K, Duarte, D, Elliott, K, Falcinelli, E, Furie, B, Keeling, D, Lambert, M P, Linger, R, Mangles, S, Mapeta, R, Millar, C M, Penkett, C J, Perry, D J, Stirrups, K, Turro, E, Westbury, S K, Wu, J, Gomez, K, Freson, K, Ouwehand, W H & Gresele, P & Simeoni, I 2019, ' Next-generation sequencing for the diagnosis of MYH9-RD : predicting pathogenic variants ', Human Mutation . https://doi.org/10.1002/humu.23927
Bury, L, Megy, K, Stephens, J C, Grassi, L, Greene, D, Gleadall, N, Althaus, K, Allsup, D, Bariana, T K, Bonduel, M, Butta, N V, Collins, P, Curry, N, Deevi, S V V, Downes, K, Duarte, D, Elliott, K, Falcinelli, E, Furie, B, Keeling, D, Lambert, M P, Linger, R, Mangles, S, Mapeta, R, Millar, C M, Penkett, C, Perry, D J, Stirrups, K E, Turro, E, Westbury, S K, Wu, J, Bioresource, N, Gomez, K, Freson, K, Ouwehand, W H, Gresele, P, Simeoni, I, Williamson, C & Dixon, P 2020, ' Next-generation sequencing for the diagnosis of MYH9 -RD: Predicting pathogenic variants ', Human Mutation, vol. 41, no. 1, pp. 277-290 . https://doi.org/10.1002/humu.23927مصطلحات موضوعية: Male, Variable severity, Fluorescent Antibody Technique, Gene Expression, high throughput next generation sequencing, Child, Genetics (clinical), Research Articles, 0303 health sciences, Kidney, 030305 genetics & heredity, Chromosome Mapping, High-Throughput Nucleotide Sequencing, Middle Aged, Macrothrombocytes, MYH9‐related disorders, ACMG guidelines, 3. Good health, Clinical Practice, medicine.anatomical_structure, Phenotype, clinical diagnosis, Child, Preschool, Female, ACMG Guidelines, Research Article, Adult, medicine.medical_specialty, Adolescent, Genotype, Platelet disorder, genomics, high throughput sequencing, MYH9-related disorders, variant classification, Biology, DNA sequencing, Evolution, Molecular, 03 medical and health sciences, Young Adult, Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, Alleles, Genetic Association Studies, 030304 developmental biology, Aged, Myosin Heavy Chains, Genetic variants, Genetic Variation, Infant, medicine.disease, Bleeding diathesis, Mutation
وصف الملف: Print-Electronic; application/pdf