المؤلفون: Karyn Megy, Willem H. Ouwehand, Loren Kell, Jonathan Stephens, Kate Downes, Abigail Shurr, Claire L. Shovlin, Ilenia Simeoni, D Patel, Maria E. Bernabeu-Herrero, Micheala A. Aldred, Zoe C. Frazer, Christopher J. Penkett, Luca Jovine, Jennifer Brimley, Isobel G. Turbin, Ernest Turro

المساهمون: Imperial College Trust, Imperial College Healthcare NHS Trust, Imperial College Healthcare NHS Trust - CLRN Funding, Imperial College Healthcare NHS Trust- BRC Funding

المصدر: Blood

مصطلحات موضوعية: 0301 basic medicine, Male, Models, Molecular, Clinical Trials and Observations, Activin Receptors, Type II, DNA Mutational Analysis, ALK1, Biochemistry, Cohort Studies, 0302 clinical medicine, Genotype, Growth Differentiation Factor 2, 1102 Cardiorespiratory Medicine and Haematology, Smad4 Protein, Massive parallel sequencing, medicine.diagnostic_test, Endoglin, GENETIC-VARIATION, High-Throughput Nucleotide Sequencing, TGF-BETA, Hematology, Genomics, GENOTYPE, PREVALENCE, Phenotype, Medical genetics, ARTERIOVENOUS-MALFORMATIONS, Female, Telangiectasia, Hereditary Hemorrhagic, Life Sciences & Biomedicine, medicine.medical_specialty, Heterozygote, Immunology, Context (language use), Computational biology, Biology, HHT, 03 medical and health sciences, Human Phenotype Ontology, Genetic variation, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Genetic Association Studies, Genetic testing, Retrospective Studies, Science & Technology, IDENTIFICATION, 1103 Clinical Sciences, Cell Biology, Sequence Analysis, DNA, 030104 developmental biology, Mutation, 1114 Paediatrics and Reproductive Medicine, JUVENILE POLYPOSIS, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b67c88ac838f58210b09668375add670Test
https://europepmc.org/articles/PMC7717479Test/

المؤلفون: Shovlin, C, Simeoni, I, Downes, K, Frazer, Z, Megy, K, Bernabeu-Herrero, M, Shurr, A, Brimley, J, Patel, D, Kell, L, Stephens, J, Turbin, I, Aldred, M, Penkett, C, Stirrups, K, Ouwehand, W, Jovine, L, Turro, E

المساهمون: Imperial College Trust, Imperial College Healthcare NHS Trust, Imperial College Healthcare NHS Trust - CLRN Funding, Imperial College Healthcare NHS Trust- BRC Funding

المصدر: 1918 ; 1907

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Hematology, ARTERIOVENOUS-MALFORMATIONS, JUVENILE POLYPOSIS, GENETIC-VARIATION, TGF-BETA, GENOTYPE, ENDOGLIN, HHT, PREVALENCE, ALK1, IDENTIFICATION, 1102 Cardiorespiratory Medicine and Haematology, 1103 Clinical Sciences, 1114 Paediatrics and Reproductive Medicine, Immunology

العلاقة: Blood; http://hdl.handle.net/10044/1/79705Test; N/A; WHCV_P38899; CPG1 CLRN ABF 11110D; WHCV_P44377; RDLRN; RDB02

الإتاحة: https://doi.org/10.1182/blood.2019004560Test
http://hdl.handle.net/10044/1/79705Test