Human Genome Epidemiology Literature Finder
Records 1 - 5 (of 5 Records) |
Query Trace: Thrombocytopenia and RBM8A[original query] |
---|
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders. Human molecular genetics 2013 Jan . Nguyen LS, Kim HG, Rosenfeld JA, Shen Y, Gusella JF, Lacassie Y, Layman LC, Shaffer LG, Gecz J |
Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing. International journal of laboratory hematology 2016 Jun . Nicchia E, Giordano P, Greco C, De Rocco D, Savoia |
Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome. British journal of haematology 2017 Aug . Manukjan Georgi, Bösing Hendrik, Schmugge Markus, Strauß Gabriele, Schulze Hara |
Thrombocytopenia Absent Radius (TAR)-Syndrome: From Current Genetics to Patient Self-Empowerment. Hamostaseologie 2023 8 43 (4): 252-260. Gabriele Strauss, Kristina Mott, Eva Klopocki, Harald Schul |
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population. Genes 2023 10 14 (10): . Aziz Suat Gunsel, Mahmut Cerkez Ergoren, Hatice Kemal, Haniyeh Rahbar Kafshboran, Levent Cerit, Ayla Turgay, Hamza Duy |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
- Content source: