Found: 16
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Characterization of the severe phenotype of pyruvate kinase deficiency.
- Published in:
- American Journal of Hematology, 2020, v. 95, n. 10, p. E281, doi. 10.1002/ajh.25926
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- Publication type:
- Article
Genotype‐phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.
- Published in:
- American Journal of Hematology, 2020, v. 95, n. 5, p. 472, doi. 10.1002/ajh.25753
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- Publication type:
- Article
Comorbidities and complications in adults with pyruvate kinase deficiency.
- Published in:
- European Journal of Haematology, 2021, v. 106, n. 4, p. 484, doi. 10.1111/ejh.13572
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- Publication type:
- Article
Thrombocytopenia in late preterm and term neonates after perinatal asphyxia.
- Published in:
- Transfusion, 2015, v. 55, n. 1, p. 187, doi. 10.1111/trf.12777
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- Publication type:
- Article
Clinical utility of next-generation sequencing in the diagnosis of hereditary haemolytic anaemias.
- Published in:
- British Journal of Haematology, 2016, v. 174, n. 5, p. 806, doi. 10.1111/bjh.14131
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- Publication type:
- Article
Pyruvate kinase deficiency in children.
- Published in:
- Pediatric Blood & Cancer, 2021, v. 68, n. 9, p. 1, doi. 10.1002/pbc.29148
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- Publication type:
- Article
Ringed sideroblasts in β-thalassemia.
- Published in:
- Pediatric Blood & Cancer, 2017, v. 64, n. 5, p. n/a, doi. 10.1002/pbc.26324
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- Publication type:
- Article
Ringed sideroblasts in β-thalassemia.
- Published in:
- 2016
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- Publication type:
- journal article
Novel α-Spectrin Mutation in Trans with α-Spectrin Causing Severe Neonatal Jaundice from Hereditary Spherocytosis.
- Published in:
- 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.
- Published in:
- Neonatology (16617800), 2014, v. 106, n. 2, p. 140, doi. 10.1159/000363219
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- Publication type:
- Article
Neonatal Hemolytic Jaundice: Morphologic Features of Erythrocytes That Will Help You Diagnose the Underlying Condition.
- Published in:
- Neonatology (16617800), 2014, v. 105, n. 4, p. 243, doi. 10.1159/000357378
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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.
- Published in:
- Neonatology (16617800), 2013, v. 105, n. 1, p. 1, doi. 10.1159/000354884
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- Publication type:
- Article
A de novo T73I Mutation in PTPN11 in a Neonate with Severe and Prolonged Congenital Thrombocytopenia and Noonan Syndrome.
- Published in:
- Neonatology (16617800), 2013, v. 104, n. 1, p. 1, doi. 10.1159/000346375
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- Publication type:
- Article
Three Novel Spectrin Variants in Jaundiced Neonates.
- Published in:
- Clinical Pediatrics, 2018, v. 57, n. 1, p. 19, doi. 10.1177/0009922816687326
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- Publication type:
- Article
An Instructive Case of Transient Myeloproliferative Disorder.
- Published in:
- 2017
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- Publication type:
- Case Study
Siblings with severe pyruvate kinase deficiency and a complex genotype.
- Published in:
- 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