Disease: Skeleto cardiac syndrome with thrombocytopenia
- A case series review of patients with Thrombocytopenia and Absent-Radii syndrome (TARS) and their management during pregnancy
- A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations
- A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature
- Adderall® (amphetamine-dextroamphetamine) toxicity
- An infant with congenital fibula deficiency accompanying with deafness
- Antiphospholipid (Hughes) syndrome: beyond pregnancy morbidity and thrombosis
- Blue rubber bleb nevus syndrome
- Cardiofaciocutaneous Syndrome
- Cloning of the murine non-muscle myosin heavy chain IIA gene ortholog of human MYH9 responsible for May-Hegglin, Sebastian, Fechtner, and Epstein syndromes
- Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients
- Enzyme-replacement therapy for metabolic storage disorders
- Inborn errors of immunity and metabolic disorders: current understanding, diagnosis, and treatment approaches
- Interstitial lung disease in an adult with Fanconi anemia: clues to the pathogenesis
- MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia
- Mitral valve repair in a patient with thrombocytopenia-absent radius syndrome: case report
- New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome
- Ocular manifestations of a metastatic adenocarcinoma in a horse
- Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region
- Robotic surgery for atrial septal defect closure in a case of Kabuki syndrome
- Skeletal and cardiac malformations with thrombocytopenia: a new syndrome?
- Skeletal anomalies in genetically determined congenital heart disease
- Thrombocytopenia absent radius syndrome with Tetralogy of Fallot: a rare association
- Thrombocytopenia and absent radii syndrome (TAR). Case report and literature discussion
- Thrombocytopenia with absent radii (TAR) syndrome: from hemopoietic progenitor to mesenchymal stromal cell disease?
- Thrombocytopenia With Absent Radii Syndrome With an Unusual Urological Pathology: A Case Report
- Thrombocytopenia with absent radius (TAR)
- Thrombocytopenia with bilateral absence of the radius (TAR syndrome). Reports of 2 clinical cases
- Thrombocytopenia-absent radius - TAR-syndrome
- Thrombocytopenia-absent radius (tar) syndrome: a case with agenesis of corpus callosum, hypoplasia of cerebellar vermis and horseshoe kidney
- Thrombocytopenia-Absent Radius (TAR): Case report of dental implant and surgical treatment
- 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