المؤلفون: Lisa G. Riley, Matthew M. Heeney, Joëlle Rudinger-Thirion, Magali Frugier, Dean R. Campagna, Ronghao Zhou, Gregory A. Hale, Lee M. Hilliard, Joel A. Kaplan, Janet L. Kwiatkowski, Colin A. Sieff, David P. Steensma, Alexander J. Rennings, Annet Simons, Nicolaas Schaap, Richard J. Roodenburg, Tjitske Kleefstra, Leonor Arenillas, Josep Fita-Torró, Rasha Ahmed, Miguel Abboud, Elie Bechara, Roula Farah, Rienk Y. J. Tamminga, Sylvia S. Bottomley, Mayka Sanchez, Gerwin Huls, Dorine W. Swinkels, John Christodoulou, Mark D. Fleming

المصدر: Haematologica, Vol 103, Iss 12 (2018)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: https://haematologica.org/article/view/8696; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

URL الوصول: https://doaj.org/article/70af1a9edca84727a4ddd156e06aba63

المؤلفون: Lee Hilliard, Joëlle Rudinger-Thirion, Alexander J. Rennings, Magali Frugier, Richard J. Roodenburg, Lisa G. Riley, Leonor Arenillas, David P. Steensma, Josep Fita-Torró, Elie Bechara, Mark D. Fleming, Sylvia S. Bottomley, Gregory A. Hale, Janet L. Kwiatkowski, Rienk Y. J. Tamminga, Ronghao Zhou, Dean R. Campagna, Joel Kaplan, Miguel R. Abboud, Matthew M. Heeney, Colin A. Sieff, Nicolaas Schaap, Rasha Ahmed, John Christodoulou, Dorine W. Swinkels, Gerwin Huls, Mayka Sanchez, Tjitske Kleefstra, Roula Farah, Annet Simons

المساهمون: Stem Cell Aging Leukemia and Lymphoma (SALL), Guided Treatment in Optimal Selected Cancer Patients (GUTS), Genetic Metabolic Disorders Research Unit, Westmead Hospital [Sydney]-Kids Research Institute, Architecture et Réactivité de l'ARN (ARN), Institut de biologie moléculaire et cellulaire (IBMC), Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), St Jude Children's Research Hospital, 849 Department of Human Genetics, Radboud University Medical Center [Nijmegen], Balamand University Medical School, Westmead Hospital [Sydney]

المصدر: Haematologica
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Haematologica, 103(12), 2008-2015. FERRATA STORTI FOUNDATION
Haematologica, 103, 2008-2015
Haematologica, Ferrata Storti Foundation, 2018, 103 (12), pp.2008-2015. ⟨10.3324/haematol.2017.182659⟩
Haematologica, 103, 12, pp. 2008-2015

مصطلحات موضوعية: 0301 basic medicine, Anemia, [SDV]Life Sciences [q-bio], Anèmia, TRANSFER-RNA SYNTHETASE, Biology, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Germline mutation, Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience [Radboudumc 7], Sideroblastic anemia, Mitochondrial myopathy, medicine, Missense mutation, HETEROGENEITY, Allele, MUTATION, Exome sequencing, ComputingMilieux_MISCELLANEOUS, Genetics, IDENTIFICATION, Cancer development and immune defence RIHS: Radboud Institute for Health Sciences [Radboudumc 2], Hematology, medicine.disease, Renal disorders RIMLS: Radboud Institute for Molecular Life Sciences [Radboudumc 11], 3. Good health, Fenotip, Cancer development and immune defence RIMLS: Radboud Institute for Molecular Life Sciences [Radboudumc 2], Mitochondrial diseases RIMLS: Radboud Institute for Molecular Life Sciences [Radboudumc 6], 030104 developmental biology, Lactic acidosis

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e33db39b676f24e3649b6850f1684f6a
https://doi.org/10.3324/haematol.2017.182659

المؤلفون: Lisa G, Riley, Matthew M, Heeney, Joëlle, Rudinger-Thirion, Magali, Frugier, Dean R, Campagna, Ronghao, Zhou, Gregory A, Hale, Lee M, Hilliard, Joel A, Kaplan, Janet L, Kwiatkowski, Colin A, Sieff, David P, Steensma, Alexander J, Rennings, Annet, Simons, Nicolaas, Schaap, Richard J, Roodenburg, Tjitske, Kleefstra, Leonor, Arenillas, Josep, Fita-Torró, Rasha, Ahmed, Miguel, Abboud, Elie, Bechara, Roula, Farah, Rienk Y J, Tamminga, Sylvia S, Bottomley, Mayka, Sanchez, Gerwin, Huls, Dorine W, Swinkels, John, Christodoulou, Mark D, Fleming

المصدر: Haematologica

مصطلحات موضوعية: Male, Adolescent, Mutation, Missense, Infant, Genetic Diseases, X-Linked, Middle Aged, Article, Anemia, Sideroblastic, Mitochondrial Proteins, Young Adult, Tyrosine-tRNA Ligase, MELAS Syndrome, Humans, Acidosis, Lactic, Female, Red Cell Biology & its Disorders, Genetic Association Studies, Germ-Line Mutation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::6a45e11c567c6f28ad3a0a7859fd7703
https://pubmed.ncbi.nlm.nih.gov/30026338