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Gene, ISSN 0378-1119, 06/2019, Volume 702, pp. 143 - 147
The genetic defects of a 12-year-old patient with factor XIII deficiency (FXIIID) and eight pedigree members suspected with FXIIID were studied. Clinical... 
FXIIID | F13A1 | NBEAL2 | GPS | VARIANTS | GENETICS & HEREDITY | COAGULATION | Index Medicus
Journal Article
HAEMATOLOGICA, ISSN 0390-6078, 06/2019, Volume 104, Issue 7
Dominant-negative mutations in the transcription factor Growth Factor Independence-1B (GFI1B), such as GFI1B(Q287)*, cause a bleeding disorder characterized by... 
GFI-1B | PROTEIN | CD34 EXPRESSION | HEMATOPOIETIC STEM-CELLS | DEMETHYLASE 1 | THROMBOCYTOPENIA | NBEAL2 | DIFFERENTIATION | HEMATOLOGY | GFI1B MUTATION | MEGAKARYOPOIESIS
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 08/2013, Volume 123, Issue 8, pp. 3331 - 3342
Platelets are anuclear organelle-rich cell fragments derived from bone marrow megakaryocytes (MKs) that safeguard vascular integrity. The major platelet... 
MEDICINE, RESEARCH & EXPERIMENTAL | GLYCOPROTEIN-VI | ALPHA-GRANULES | BLEEDING-TIME | INTEGRIN | IN-VIVO | ARTERIAL THROMBOSIS | NBEAL2 | GROWTH-FACTOR | PROTEINS | ISCHEMIC-STROKE | Care and treatment | Genetic aspects | Diagnosis | Research | Gene expression | Blood platelet disorders | Thrombosis | Blood clot | Proteins | Wound healing | Heart attacks | Blood platelets | Microscopy | Colleges & universities | Defects
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 01/2014, Volume 370, Issue 3, pp. 245 - 253
Journal Article
Arteriosclerosis, thrombosis, and vascular biology, ISSN 1079-5642, 11/2018, Volume 38, Issue 11, pp. 2539 - 2541
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2013, Volume 92, Issue 3, pp. 431 - 438
Journal Article
Sang Thrombose Vaisseaux, ISSN 0999-7385, 09/2014, Volume 26, Issue 5, pp. 240 - 254
Journal Article
SEMINARS IN THROMBOSIS AND HEMOSTASIS, ISSN 0094-6176, 09/2011, Volume 37, Issue 6, pp. 617 - 620
Journal Article
BRITISH JOURNAL OF HAEMATOLOGY, ISSN 0007-1048, 03/2019, Volume 185, pp. 128 - 128
Conference Proceeding
Journal of Thrombosis and Haemostasis, ISSN 1538-7933, 11/2012, Volume 10, Issue 11, pp. 2399 - 2402
The platelet field is undergoing a radical transformation from reductionist simplification to large scale integration. Following the era of simplification... 
PERIPHERAL VASCULAR DISEASE | NBEAL2 | PROTEIN | GENE | HEMATOLOGY | MAP | User-Computer Interface | Computational Biology - methods | Knowledge Bases | Phosphorylation | Humans | International Cooperation | Animals | Blood Platelets - cytology | Models, Biological | Protein Binding | Software | Internet | Megakaryocytes - cytology | Databases, Factual | Universities and colleges | Index Medicus
Journal Article
Journal Article
Journal of Thrombosis and Haemostasis, ISSN 1538-7933, 04/2015, Volume 13, Issue 4, pp. 643 - 650
BackgroundInherited platelet function disorders (PFDs) are heterogeneous, and identification of the underlying genetic defects is difficult when based solely... 
bleeding | DNA | bioinformatics | blood platelet disorders | high‐throughput | platelets | sequencing | High-throughput DNA sequencing | Platelets | Bioinformatics | Blood platelet disorders | Bleeding | PROTEIN | RECEPTOR | NBEAL2 | DIATHESIS | P2Y | PERIPHERAL VASCULAR DISEASE | MUTATIONS | SECRETION | high-throughput DNA sequencing | HEMATOLOGY | BINDING | PARTICIPANTS | AGGREGATION | GTP-Binding Protein alpha Subunits, Gi-Go - genetics | Predictive Value of Tests | Humans | Middle Aged | Male | Blood Platelet Disorders - blood | Genetic Testing - methods | Exome | Young Adult | DNA Mutational Analysis | Aged, 80 and over | Adult | Female | Child | Blood Platelet Disorders - genetics | GTP-Binding Protein alpha Subunits, Gi-Go - blood | Genetic Predisposition to Disease | Genetic Association Studies | Computational Biology | United Kingdom | Heredity | Signal Transduction - genetics | Genetic Markers | Blood Platelet Disorders - diagnosis | Blood Platelets - secretion | Homozygote | Phenotype | Algorithms | Blood Platelets - metabolism | Adolescent | Heterozygote | Aged | High-Throughput Nucleotide Sequencing | Polymorphism, Single Nucleotide | Mutation | Cluster Analysis | Genetic research | Genetic aspects | Nucleotide sequencing | Analysis | Genes | DNA sequencing | Index Medicus | high‐throughput DNA sequencing | Original | PLATELETS
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2013, Volume 8, Issue 9, pp. e74728 - e74728
Journal Article