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American Journal of Hematology, ISSN 0361-8609, 03/2019, Volume 94, Issue 3, pp. 384 - 393
Identification of genetic causes of neutropenia informs precision medicine approaches to medical management and treatment. Accurate diagnosis of genetic... 
CXCR4 ANTAGONIST PLERIXAFOR | MUTATIONS CAUSE | CLINICAL PRESENTATION | SEVERE CONGENITAL NEUTROPENIA | SHWACHMAN-DIAMOND SYNDROME | GENOMIC ANALYSIS | GUANINE-NUCLEOTIDE EXCHANGE | MIRAGE SYNDROME | HEMATOLOGY | MYELODYSPLASTIC SYNDROME | BONE-MARROW FAILURE | Kidney diseases | Health aspects | Genetic screening | Neutropenia | Genetic testing | Cancer
Journal Article
Pediatric Blood & Cancer, ISSN 1545-5009, 06/2017, Volume 64, Issue 6, p. n/a
Journal Article
Pediatric Blood & Cancer, ISSN 1545-5009, 06/2018, Volume 65, Issue 6, pp. e26994 - n/a
Journal Article
Pediatric Blood & Cancer, ISSN 1545-5009, 06/2018, Volume 65, Issue 6
Journal Article
Pediatric Blood & Cancer, ISSN 1545-5009, 06/2017, Volume 64, Issue 6, p. e26506
Journal Article
Pediatric Blood & Cancer, ISSN 1545-5009, 01/2019, Volume 66, Issue 1, pp. e27473 - n/a
Mutations in the VPS45 gene lead to a severe primary immune deficiency characterized by severe congenital neutropenia and primary myelofibrosis, leading to... 
infection | myelofibrosis | severe combined neutropenia | bone marrow transplantation | ONCOLOGY | TRAFFICKING | PEDIATRICS | HEMATOLOGY | Bone marrow | Genetic aspects | Transplantation | Genetic disorders | Neutropenia
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 07/2019, Volume 129, Issue 7, p. 2878
The etiology of severe hemolytic anemia in most patients with recessive hereditary spherocytosis (rHS) and the related disorder hereditary pyropoikilocytosis... 
Genetic disorders | Hemolytic anemia | Messenger RNA | Codon | Analysis | Development and progression | Genetic aspects | Membrane proteins
Journal Article
Circulation, ISSN 0009-7322, 11/2018, Volume 138, Issue Suppl_1 Suppl 1, pp. A16383 - A16383
Advancements in treatment of congenital heart disease (CHD) have increased the number of adults with CHD, who face multifaceted medical issues including... 
Journal Article
Journal of Cellular Biochemistry, ISSN 0730-2312, 03/2019, Volume 120, Issue 3, p. 4321
Supporting Information 
Journal Article
Journal Article
Journal of Cellular Biochemistry, ISSN 0730-2312, 09/2015, Volume 116, Issue 9, pp. 2008 - 2017
Journal Article
Pediatric blood & cancer, 06/2018, Volume 65, Issue 6, pp. e26994 - e26994
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 05/2015, Volume 135, Issue 5, p. 1393
  [...]these results support a role for the IFN-γ pathway in the upregulation of NADPH oxidase activity in MDMs and EBV-B cells and suggest that impairment of... 
Oxidases | Phosphates | Niacinamide | Purines | Interferon | Health care | Signal transduction | Oxygen | Tuberculosis | Mutation | Disease
Journal Article
Blood Cells, Molecules and Diseases, ISSN 1079-9796, 03/2017, Volume 63, p. 1
An oral therapeutic which reduces duration of cytopenias and is active following accidental radiation exposures is an unmet need in radiation countermeasures.... 
Analysis | Hematopoietic stem cells | Radiation | Primates | Medical colleges
Journal Article
Journal of Pediatrics, The, ISSN 0022-3476, 2009, Volume 154, Issue 6, pp. 841 - 841
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