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Perinatal Onset Mevalonate Kinase Deficiency.
- Published in:
- Pediatric & Developmental Pathology, 2011, v. 14, n. 4, p. 301, doi. 10.2350/11-02-0985-OA.1
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- Publication type:
- Article
Granulicatella adiacens and Early-Onset Sepsis in Neonate.
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- Emerging Infectious Diseases, 2011, v. 17, n. 10, p. 1971, doi. 10.3201/eid1710.101967
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- Publication type:
- Article
Bacteremia, Meningitis, and Brain Abscesses in a Hospitalized Infant: Complications of Pseudomonas aeruginosa Conjunctivitis.
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- Journal of Perinatology, 1999, v. 19, n. 6, p. 462, doi. 10.1038/sj.jp.7200247
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- Publication type:
- Article
Canine elliptocytosis due to a mutant β-spectrin.
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- Veterinary Clinical Pathology, 2009, v. 38, n. 1, p. 52, doi. 10.1111/j.1939-165X.2008.00092.x
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- Publication type:
- Article
Mutation of a barrier insulator in the human ankyrin-1 gene is associated with hereditary spherocytosis.
- Published in:
- 2010
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- Publication type:
- journal article
Neonatal sepsis due to echovirus 18 infection.
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- Journal of Perinatal Medicine, 1997, v. 25, n. 4, p. 381
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- Publication type:
- Article
Setd1a and NURF mediate chromatin dynamics and gene regulation during erythroid lineage commitment and differentiation.
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- Nucleic Acids Research, 2016, v. 44, n. 15, p. 7173, doi. 10.1093/nar/gkw327
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- Publication type:
- Article
Genome-wide detection of a TFIID localization element from an initial human disease mutation.
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- Nucleic Acids Research, 2011, v. 39, n. 6, p. 2175, doi. 10.1093/nar/gkq1035
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- Publication type:
- Article
D‐bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 357, doi. 10.1002/ajmg.a.62520
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- Publication type:
- Article
You have free access to this contentA variant Sp1 (R218Q) transcription factor might enhance HbF expression in β<sup>0</sup>-thalassaemia homozygotes.
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- British Journal of Haematology, 2018, v. 180, n. 5, p. 755, doi. 10.1111/bjh.14445
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- Article
The genetic basis of asymptomatic codon 8 frame-shift ( HBB:c25_26del AA) β<sup>0</sup>-thalassaemia homozygotes.
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- British Journal of Haematology, 2016, v. 172, n. 6, p. 958, doi. 10.1111/bjh.13909
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- Publication type:
- Article
Phenotypic and proteomic characterization of the human erythroid progenitor continuum reveal dynamic changes in cell cycle and in metabolic pathways.
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- American Journal of Hematology, 2024, v. 99, n. 1, p. 99, doi. 10.1002/ajh.27145
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- Publication type:
- Article
Recommendations for diagnosis and treatment of methemoglobinemia.
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- American Journal of Hematology, 2021, v. 96, n. 12, p. 1666, doi. 10.1002/ajh.26340
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- Publication type:
- Article
Comprehensive phenotyping of erythropoiesis in human bone marrow: Evaluation of normal and ineffective erythropoiesis.
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- American Journal of Hematology, 2021, v. 96, n. 9, p. 1064, doi. 10.1002/ajh.26247
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- Publication type:
- Article
Development of a Stable Retrovirus Vector Capable of Long-Term Expression of γ-Globin mRNA in Mouse Erythrocytes.
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- Annals of the New York Academy of Sciences, 2001, v. 938, n. 1, p. 246, doi. 10.1111/j.1749-6632.2001.tb03595.x
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- Publication type:
- Article
Understanding iron absorption and metabolism.
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- 1998
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- Publication type:
- journal article
MKL1-actin pathway restricts chromatin accessibility and prevents mature pluripotency activation.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-09636-6
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- Publication type:
- Article
A Novel β-Globin Locus Deletional Syndrome: ϵγ-Thalassemia.
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- Clinical Chemistry, 2023, v. 69, n. 7, p. 671, doi. 10.1093/clinchem/hvad067
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- Publication type:
- Article
Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia.
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- 2019
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- Publication type:
- journal article
In vivo correction of anaemia in β-thalassemic mice by γPNA-mediated gene editing with nanoparticle delivery.
- Published in:
- Nature Communications, 2016, v. 7, n. 10, p. 13304, doi. 10.1038/ncomms13304
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- Publication type:
- Article
Cytogenomic mapping and bioinformatic mining reveal interacting brain expressed genes for intellectual disability.
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- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 2, doi. 10.1186/1755-8166-7-4
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- Publication type:
- Article
CTCF and Cohesin<sup>SA-1</sup> Mark Active Promoters and Boundaries of Repressive Chromatin Domains in Primary Human Erythroid Cells.
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- PLoS ONE, 2016, v. 11, n. 5, p. 1, doi. 10.1371/journal.pone.0155378
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- Publication type:
- Article
Hb Adana (HBA2 or HBA1: c.179G > A) and alpha thalassemia: Genotype-phenotype correlation.
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- 2018
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- Publication type:
- journal article
Hemoglobin C trait accentuates erythrocyte dehydration in hereditary xerocytosis.
- Published in:
- 2017
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- Publication type:
- journal article
Diagnosis of Pyruvate Kinase Deficiency.
- Published in:
- 2016
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- Publication type:
- journal article
Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency.
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- American Journal of Hematology, 2019, v. 94, n. 1, p. 149, doi. 10.1002/ajh.25325
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- Publication type:
- Article
Hereditary xerocytosis: Diagnostic considerations.
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- American Journal of Hematology, 2018, v. 93, n. 3, p. E67, doi. 10.1002/ajh.24996
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- Publication type:
- Article
Ankyrin-linked hereditary spherocytosis in an African-American kindred.
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- American Journal of Hematology, 2008, v. 83, n. 10, p. 789, doi. 10.1002/ajh.21254
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- Publication type:
- Article
Population analysis of the alpha hemoglobin stabilizing protein (AHSP) gene identifies sequence variants that alter expression and function.
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- American Journal of Hematology, 2008, v. 83, n. 2, p. 103, doi. 10.1002/ajh.21041
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- Publication type:
- Article
Exclusion of the stomatin, α-adducin and β-adducin loci in a large kindred with dehydrated hereditary stomatocytosis.
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- American Journal of Hematology, 1999, v. 60, n. 1, p. 72, doi. 10.1002/(SICI)1096-8652(199901)60:1<72::AID-AJH13>3.0.CO;2-8
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- Publication type:
- Article
Genetic basis of the polymorphisms of the αI domain of spectrin.
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- American Journal of Hematology, 1997, v. 56, n. 2, p. 107, doi. 10.1002/(SICI)1096-8652(199710)56:2<107::AID-AJH6>3.0.CO;2-2
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- Publication type:
- Article
Amino-acid substitution in α-spectrin commonly coinherited with nondominant hereditary spherocytosis.
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- American Journal of Hematology, 1997, v. 54, n. 3, p. 233, doi. 10.1002/(SICI)1096-8652(199703)54:3<233::AID-AJH10>3.0.CO;2-E
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- Article
correspondence Hereditary pyropoikilocytosis and the spectrin<sup>St. Claude</sup> allele.
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- 2004
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- Publication type:
- Letter
A recurrent frameshift mutation of the ankyrin gene associated with severe hereditary spherocytosis.
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- British Journal of Haematology, 2000, v. 111, n. 4, p. 1190, doi. 10.1046/j.1365-2141.2000.02441.x
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- Publication type:
- Article
A de novo band 3 mutation in hereditary spherocytosis.
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- Pediatric Blood & Cancer, 2012, v. 58, n. 6, p. 1004, doi. 10.1002/pbc.23400
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- Publication type:
- Article
Bi-allelic deletions within 13q14 and transient trisomy 21 with absence of GATA1s in pediatric acute megakaryoblastic leukemia.
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- Pediatric Blood & Cancer, 2011, v. 57, n. 3, p. 516, doi. 10.1002/pbc.23156
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- Publication type:
- Article
USF1 and hSET1A Mediated Epigenetic Modifications Regulate Lineage Differentiation and <i>HoxB4</i> Transcription.
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- PLoS Genetics, 2013, v. 9, n. 6, p. 1, doi. 10.1371/journal.pgen.1003524
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- Publication type:
- Article
Joint bleeds in mild hemophilia: Prevalence and clinical characteristics.
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- Haemophilia, 2024, v. 30, n. 2, p. 331, doi. 10.1111/hae.14939
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- Publication type:
- Article
A dinucleotide deletion in the ankyrin promoter alters gene expression, transcription initiation and TFIID complex formation in hereditary spherocytosis.
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- Human Molecular Genetics, 2005, v. 14, n. 17, p. 2501, doi. 10.1093/hmg/ddi254
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- Publication type:
- Article
Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing.
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- Movement Disorders, 2012, v. 27, n. 4, p. 539, doi. 10.1002/mds.24020
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- Publication type:
- Article
Epidemiological studies of spectrin mutations related to hereditary elliptocytosis and spectrin polymorphisms in Benin.
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- British Journal of Haematology, 1996, v. 95, n. 1, p. 57, doi. 10.1046/j.1365-2141.1996.d01-1869.x
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- Publication type:
- Article
Location and PCR-based detection of three polymorphisms of the human erythrocyte β-spectrin gene (SPTB).
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- British Journal of Haematology, 1994, v. 88, n. 2, p. 413, doi. 10.1111/j.1365-2141.1994.tb05043.x
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- Publication type:
- Article
Analysis of a Pst I polymorphism of the human erythrocyte band 3 gene (EPB3).
- Published in:
- British Journal of Haematology, 1993, v. 85, n. 4, p. 816, doi. 10.1111/j.1365-2141.1993.tb03232.x
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- Publication type:
- Article