Works matching DE "THROMBOCYTOPENIA absent radius syndrome"
Results: 18
Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report.
- Published in:
- BMC Research Notes, 2013, v. 6, n. 1, p. 1, doi. 10.1186/1756-0500-6-376
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- Article
Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing.
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- International Journal of Laboratory Hematology, 2016, v. 38, n. 4, p. 412, doi. 10.1111/ijlh.12516
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- Article
THROMBOCYTOPENIA AND ABSENT RADIUS (TAR) SYNDROME - CASE PRESENTATION.
- Published in:
- 2017
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- Publication type:
- Case Study
Thrombocytopenia with Unilateral Dysplastic Radius- Is it Thrombocytopenia - Absent Radius (TAR) Syndrome?
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- Journal of Clinical & Diagnostic Research, 2015, v. 9, n. 3, p. 1, doi. 10.7860/JCDR/2015/12263.5626
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- Article
PP-07 TAR Syndrome case report.
- Published in:
- 2023
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- Publication type:
- Case Study
Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome.
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- British Journal of Haematology, 2017, v. 179, n. 4, p. 606, doi. 10.1111/bjh.14913
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- Article
Severe Extremity Anomaly and Neurodevelopmental Retardation in an Infant with TAR Syndrome and Differential Diagnosis in Radial Defects.
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- Journal of Pediatric Research, 2022, v. 9, n. 3, p. 302, doi. 10.4274/jpr.galenos.2022.76993
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- Article
Thrombocytopenia absent radius (TAR) syndrome: a case report and review for oral health care providers.
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- Special Care in Dentistry, 2014, v. 34, n. 5, p. 251, doi. 10.1111/scd.12060
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- Article
CONGENITAL BILATERAL RADIUS APLASION - A CASE REPORT.
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- Journal of Perinatal Medicine, 2017, v. 45, p. 284, doi. 10.1515/jpm-2017-3002
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- Article
TRAP SEQUENCE.
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- Journal of Perinatal Medicine, 2017, v. 45, p. 246, doi. 10.1515/jpm-2017-3002
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- Article
TAR SYNDROME PRENATAL DIAGNOSTIC, CASE REPORT.
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- Journal of Perinatal Medicine, 2017, v. 45, p. 217, doi. 10.1515/jpm-2017-3002
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- Publication type:
- Article
Reconstruction of Limb Deformities in Patients with Thrombocytopenia-absent Radius Syndrome.
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- Orthopaedic Surgery, 2015, v. 7, n. 1, p. 50, doi. 10.1111/os.12157
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- Article
Newborn with an Arm Deformity.
- Published in:
- 2017
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- Publication type:
- journal article
Thrombocytopenia absent radius syndrome with Tetralogy of Fallot: a rare association.
- Published in:
- International Medical Case Reports Journal, 2015, v. 8, p. 81, doi. 10.2147/IMCRJ.S81770
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- Article
An Infant With Abnormal Upper Extremity Findings: A Case Report.
- Published in:
- 2018
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- Publication type:
- Case Study
Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a lowfrequency noncoding RBM8A SNP: a new familial case.
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- Molecular Cytogenetics (17558166), 2015, v. 8, p. 1, doi. 10.1186/s13039-015-0188-6
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- Publication type:
- Article
How to manage a congenital heart defect in a patient with thrombocytopenia-absent radius syndrome?
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- Journal of Surgery & Medicine (JOSAM), 2024, v. 8, n. 4, p. 78, doi. 10.28982/josam.7580
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- Publication type:
- Article
Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334-kb deletion: A case report.
- Published in:
- Molecular Medicine Reports, 2014, v. 9, n. 1, p. 163, doi. 10.3892/mmr.2013.1788
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- Article