Disease: Thrombocytopenia-absent radius (TAR) syndrome
- 1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius-like phenotypes
- A new approach for molecular diagnosis of TAR syndrome
- Acute lymphoidic leukemia in a patient with thrombocytopenia/absent radii (Tar) syndrome
- An eight-case 1q21 region series: novel aberrations and clinical variability with new features
- An infant with congenital fibula deficiency accompanying with deafness
- Association of Radial Longitudinal Deficiency and Thumb Hypoplasia: An Update Using the CoULD Registry
- Case report: Pneumatosis in a neonate with thrombocytopenia absent radius syndrome
- Clavicular pseudoarthrosis, anomalous coronary artery and extra crease of the fifth finger-previously unreported features in individuals with class II 1q21.1 microdeletions
- Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome
- Congenital FX deficiency combined with other clotting defects or with other abnormalities: a critical evaluation of the literature
- Congenital thrombocytopenia and radio-ulnar synostosis: a new familial syndrome
- De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia
- Disorders Associated With Diverse, Recurrent Deletions and Duplications at 1q21.1
- Exacerbation of thrombocytopenia in a pregnant woman with thrombocytopenia-absent radius syndrome
- Expanding the phenotype of thrombocytopenia absent radius syndrome with hypospadias
- First-trimester diagnosis of thrombocytopenia-absent radius (TAR) syndrome in a triplet pregnancy
- First-trimester diagnosis of thrombocytopenia-absent radius syndrome using virtual reality
- Genetic Study and Prenatal Diagnosis of a Family with Thrombocytopenia-Absent Radius (TAR) Syndrome
- Genomic characterization of the inherited bone marrow failure syndromes
- Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1
- Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome
- Increasing Severity of Radial Longitudinal Deficiency Correlates With the Degree of Proximal Ulnar Hypoplasia
- Inherited bone marrow failure syndromes in adolescents and young adults
- Intermittent thrombocytopenia and absent radii: report of a patient with additional unusual manifestations
- Langerhans cell histiocytosis and multiple reticulohistiocytomas in a patient with TAR syndrome: An association not previously described
- Langerhans cell histiocytosis in a pediatric patient with thrombocytopenia-absent radius syndrome and 1q21.1 deletion: case report and proposal of a rapid molecular diagnosis of 1q21.1 deletion
- Lower limb anomalies in the thrombocytopenia absent-radius (TAR) syndrome
- Management of children with thrombocytopenia-absent radius syndrome: an institutional experience
- Management of thrombocytopenia-absent radius (TAR) syndrome
- Maternal thrombocytopenia-absent radius syndrome complicated by severe pre-eclampsia
- Mayer-Rokitansky-Kuster-Hauser syndrome associated with thrombocytopenia-absent radius syndrome
- Meniscal ossification. I. Human
- Mitral valve repair in a patient with thrombocytopenia-absent radius syndrome: case report
- Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing
- Neonatal and adult megakaryopoiesis
- New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome
- Newborn with phocomelia and thrombocytopenia. Case report
- Parent to child transmission of the thrombocytopenia absent radius (TAR) syndrome
- Pediatric Acute Liver Failure Secondary to Autoimmune Hepatitis in an Infant With Thrombocytopenia-Absent Radius (TAR) Syndrome: A Case Report
- Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334-kb deletion: a case report
- Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334‑kb deletion: a case report
- Prenatal Diagnosis and Management of Thrombocytopenia-Absent Radius Syndrome
- 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
- Prenatal diagnosis of an uncommon syndrome: thrombocytopenia absent radius (TAR)
- Prenatal diagnosis of thrombocytopenia absent radius (TAR) syndrome and vaginal delivery
- Prenatal diagnosis of thrombocytopenia absent radius syndrome by ultrasound and cordocentesis
- Prenatal diagnosis of thrombocytopenia-absent radius syndrome
- Prenatal diagnosis of thrombocytopenia-absent-radius (TAR) syndrome
- Prenatal evaluation and in utero platelet transfusion for thrombocytopenia absent radii syndrome
- Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes
- Radiology case of the month. Congenital limb and bleeding disorder. Thrombocytopenia absent radius syndrome (TAR)
- Rbm8a deficiency causes hematopoietic defects by modulating Wnt/PCP signaling
- Reconstruction of limb deformities in patients with thrombocytopenia-absent radius syndrome
- T-Cell Acute Lymphoblastic Leukemia in a Young Adult With Thrombocytopenia-absent Radius Syndrome: A Case Report and Review of the Literature
- TAR Syndrome-associated Rbm8a deficiency causes hematopoietic defects and attenuates Wnt/PCP signaling
- TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A
- Tetraphocomelia and bilateral femorotibial synostosis. A severe variant of the thrombocytopenia-absent radii (TAR) syndrome?
- The Pathogenesis of Radial Ray Deficiency in Thrombocytopenia-Absent Radius (TAR) Syndrome
- The presentation and management of platelet disorders in pregnancy
- The stability of Magoh and Y14 depends on their heterodimer formation and nuclear localization
- The Y14-p53 regulatory circuit in megakaryocyte differentiation and thrombocytopenia
- Thrombocytopenia absent radius (TAR) syndrome
- Thrombocytopenia absent radius (TAR) syndrome: a case report and review for oral health care providers
- Thrombocytopenia Absent Radius (TAR)-Syndrome: From Current Genetics to Patient Self-Empowerment
- Thrombocytopenia Absent Radius Syndrome
- Thrombocytopenia absent radius syndrome
- Thrombocytopenia absent radius syndrome and knee deformity
- Thrombocytopenia absent radius syndrome associated with renal insufficiency
- Thrombocytopenia absent radius syndrome with Tetralogy of Fallot: a rare association
- Thrombocytopenia absent radius syndrome: presence of brachiocarpalis muscle and its importance
- Thrombocytopenia with absent radii (TAR) syndrome in a female neonate: a case report
- Thrombocytopenia with absent radius in a boy and his uncle
- Thrombocytopenia with Unilateral Dysplastic Radius- Is it Thrombocytopenia - Absent Radius (TAR) Syndrome?
- Thrombocytopenia-absent radius - TAR-syndrome
- Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case
- Thrombocytopenia-absent radius (tar) syndrome: a case with agenesis of corpus callosum, hypoplasia of cerebellar vermis and horseshoe kidney
- Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling
- Thrombocytopenia-Absent Radius (TAR): Case report of dental implant and surgical treatment
- Thrombocytopenia-absent radius syndrome
- Thrombocytopenia-absent radius syndrome (author's transl)
- Thrombocytopenia-absent radius syndrome: a clinical genetic study
- Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in <em>RBM8A</em> That Expands the Spectrum of Null Alleles
- Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in RBM8A That Expands the Spectrum of Null Alleles
- Thrombocytopenia-absent radius, TAR syndrome
- Thrombocytopenia-absent-radius syndrome in a child showing a larger 1q21.1 deletion than the one in his healthy mother, and a significant downregulation of the commonly deleted genes
- Thumb function and appearance in thrombocytopenia: absent radius syndrome
- Total knee arthroplasty in a patient with thrombocytopenia-absent radius syndrome
- Two new cases of thrombocytopenia absent radius (TAR) syndrome: clinical, genetic and nosologic features
- Two patterns of thrombopoietin signaling suggest no coupling between platelet production and thrombopoietin reactivity in thrombocytopenia-absent radii syndrome
- Two-stage treatment of extremity deformities associated with thrombocytopenia-absent radius syndrome
- Upper limb phocomelia: A prenatal case of thrombocytopenia-absent radius (TAR) syndrome illustrating the importance of chromosomal microarray in limb reduction defects