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A Novel Variant in G6PD (c.1375C>G) Identified from a Hispanic Neonate with Extreme Hyperbilirubinemia and Low G6PD Enzymatic Activity.
- Published in:
- Neonatology (16617800), 2020, v. 117, n. 4, p. 532, doi. 10.1159/000510300
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- Publication type:
- Article
The Neonatal Acute Bilirubin Encephalopathy Registry (NABER): Background, Aims, and Protocol.
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- Neonatology (16617800), 2019, v. 115, n. 3, p. 242, doi. 10.1159/000495518
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- Publication type:
- Article
Novel α-Spectrin Mutation in Trans with α-Spectrin Causing Severe Neonatal Jaundice from Hereditary Spherocytosis.
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- Neonatology (16617800), 2014, v. 106, n. 4, p. 355, doi. 10.1159/000365586
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- Publication type:
- Article
A Previously Unknown Mutation in the Pyruvate Kinase Gene (PKLR) Identified from a Neonate with Severe Jaundice.
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- Neonatology (16617800), 2014, v. 106, n. 2, p. 140, doi. 10.1159/000363219
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- Publication type:
- Article
Variations in Both α-Spectrin (SPTA1) and β-Spectrin (SPTB) in a Neonate with Prolonged Jaundice in a Family where Nine Individuals Had Hereditary Elliptocytosis.
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- Neonatology (16617800), 2013, v. 105, n. 1, p. 1, doi. 10.1159/000354884
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- Publication type:
- Article
Changes in the High-Performance Liquid Chromatography Pattern of Hemoglobin Lepore After Treatment With Hydroxyurea.
- Published in:
- Laboratory Medicine, 2013, v. 44, n. 3, p. 245, doi. 10.1309/LMFEXTW53PLXIB2U
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- Article
Molecular diagnosis of hereditary hemolytic anemias: Recent updates.
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- International Journal of Laboratory Hematology, 2023, v. 45, p. 79, doi. 10.1111/ijlh.14106
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- Publication type:
- Article
A case of azathioprine-induced aplastic anemia.
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- International Journal of Laboratory Hematology, 2022, v. 44, n. 6, p. 1015, doi. 10.1111/ijlh.13927
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- Publication type:
- Article
Laboratory approach to investigation of anemia in pregnancy.
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- International Journal of Laboratory Hematology, 2021, v. 43, p. 65, doi. 10.1111/ijlh.13551
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- Article
Laboratory approach to investigation of anemia in pregnancy.
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- International Journal of Laboratory Hematology, 2021, v. 43, p. 65, doi. 10.1111/ijlh.13551
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- Publication type:
- Article
Laboratory approach to investigation of anemia with a focus on pyruvate kinase deficiency.
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- International Journal of Laboratory Hematology, 2020, v. 42, p. 107, doi. 10.1111/ijlh.13200
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- Publication type:
- Article
Molecular diagnostic update in hereditary hemolytic anemia and neonatal hyperbilirubinemia.
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- International Journal of Laboratory Hematology, 2019, v. 41, p. 95, doi. 10.1111/ijlh.13014
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- Publication type:
- Article
Parathyroid fine-needle aspiration cytology in the evaluation of parathyroid adenoma: Cytologic findings from 53 patients.
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- Diagnostic Cytopathology, 2009, v. 37, n. 6, p. 407, doi. 10.1002/dc.21020
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- Publication type:
- Article
Siblings with severe pyruvate kinase deficiency and a complex genotype.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2449, doi. 10.1002/ajmg.a.37828
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- Publication type:
- Article
Mutational loss of PTEN induces resistance to NOTCH1 inhibition in T-cell leukemia.
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- Nature Medicine, 2007, v. 13, n. 10, p. 1203, doi. 10.1038/nm1636
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- Publication type:
- Article
Clinical utility of next-generation sequencing in the diagnosis of hereditary haemolytic anaemias.
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- British Journal of Haematology, 2016, v. 174, n. 5, p. 806, doi. 10.1111/bjh.14131
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- Publication type:
- Article
BRAF V600E does not predict aggressive features of pediatric papillary thyroid carcinoma.
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- Laryngoscope, 2014, v. 124, n. 9, p. E389, doi. 10.1002/lary.24668
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- Publication type:
- Article
Effect of treatment dose reductions in the setting of hand-foot syndrome on survival outcomes in patients with metastatic renal cell carcinoma treated with vascular endothelial growth factor receptor inhibitors.
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- Journal of Oncology Pharmacy Practice, 2018, v. 24, n. 3, p. 190, doi. 10.1177/1078155217693426
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- Publication type:
- Article
Novel, de novo, beta‐globin variant with decreased oxygen affinity (HBB:c.317T>A, "Hemoglobin St. George") in a healthy child with low oxygen saturations and anemia.
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- American Journal of Hematology, 2021, v. 96, n. 12, p. E448, doi. 10.1002/ajh.26356
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- Publication type:
- Article
Novel mechanism of hereditary pyropoikilocytosis phenotype due to co‐inheritance of β globin and α spectrin mutations.
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- American Journal of Hematology, 2021, v. 96, n. 5, p. E150, doi. 10.1002/ajh.26121
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- Publication type:
- Article
Three Novel Spectrin Variants in Jaundiced Neonates.
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- Clinical Pediatrics, 2018, v. 57, n. 1, p. 19, doi. 10.1177/0009922816687326
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- Publication type:
- Article
Neutrophil-lymphocyte ratio as a predictive biomarker for response to high dose interleukin-2 in patients with renal cell carcinoma.
- Published in:
- 2017
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- Publication type:
- journal article
Improved harmonization of eosin-5-maleimide binding test across different instruments and age groups.
- Published in:
- Cytometry. Part B, 2016, v. 90, n. 6, p. 512, doi. 10.1002/cyto.b.21326
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- Publication type:
- Article
Clinical utility of targeted next‐generation sequencing panel in routine diagnosis of hereditary hemolytic anemia: A national reference laboratory experience.
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- European Journal of Haematology, 2023, v. 110, n. 6, p. 688, doi. 10.1111/ejh.13951
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- Publication type:
- Article
Identification of One or Two α-Globin Gene Deletions by Isoelectric Focusing Electrophoresis.
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- American Journal of Clinical Pathology, 2013, v. 140, n. 3, p. 301, doi. 10.1309/AJCPF4UIJKH3EOBY
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- Publication type:
- Article
Emerging Molecularly Targeted Therapies in Castration Refractory Prostate Cancer.
- Published in:
- Prostate Cancer (20903111), 2013, p. 1, doi. 10.1155/2013/981684
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- Publication type:
- Article
Conditional survival of metastatic renal cell carcinoma patients treated with high-dose interleukin-2.
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- Ecancermedicalscience, 2016, v. 10, n. 674-708, p. 1, doi. 10.3332/ecancer.2016.676
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- Publication type:
- Article
Diagnosis of Hemoglobinopathy and β-Thalassemia by 21 Tesla Fourier Transform Ion Cyclotron Resonance Mass Spectrometry and Tandem Mass Spectrometry of Hemoglobin from Blood.
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- Clinical Chemistry, 2019, v. 65, n. 8, p. 986, doi. 10.1373/clinchem.2018.295766
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- Publication type:
- Article
Commentary.
- Published in:
- Clinical Chemistry, 2012, v. 58, n. 2, p. 335, doi. 10.1373/clinchem.2011.175844
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- Publication type:
- Article
Infantile Pyknocytosis: End-Tidal CO, %Micro-R Measurements, Next-Generation Sequencing, and Transfusion Avoidance with Darbepoetin.
- Published in:
- Biomedicine Hub, 2020, v. 5, n. 3, p. 1, doi. 10.1159/000511388
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- Publication type:
- Article
Bone marrow necrosis in pediatric malignancies: 10‐Year retrospective review and review of literature.
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- Pediatric Blood & Cancer, 2021, v. 68, n. 3, p. 1, doi. 10.1002/pbc.28806
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- Publication type:
- Article
Development of a rapid multiplex PCR assay for identification of the three common Hemoglobin-Lepore variants (Boston-Washington, Baltimore, and Hollandia) and identification of a new Lepore variant.
- Published in:
- American Journal of Hematology, 2012, v. 87, n. 10, p. E74, doi. 10.1002/ajh.23304
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- Publication type:
- Article
Pulmonary Talc Granulomatosis Masquerading as Massive Pulmonary Embolism.
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- 2009
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- Publication type:
- Case Study
Survival Outcomes and Tumor IMP3 Expression in Patients with Sarcomatoid Metastatic Renal Cell Carcinoma.
- Published in:
- Journal of Oncology, 2015, v. 2015, p. 1, doi. 10.1155/2015/181926
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- Publication type:
- Article
Ankyrin Mutations in Hereditary Spherocytosis.
- Published in:
- Acta Haematologica, 2019, v. 141, n. 2, p. 63, doi. 10.1159/000495339
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- Publication type:
- Article
Predictive genomic markers of response to VEGF targeted therapy in metastatic renal cell carcinoma.
- Published in:
- PLoS ONE, 2019, v. 14, n. 1, p. 1, doi. 10.1371/journal.pone.0210415
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- Publication type:
- Article