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thrombocytopenia absent radius syndrome 相关文献:
Thrombocytopenia Absent Radius Syndrome.
Petit F, Boussion S.
2009 Dec 8 [updated 2023 Nov 2]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:20301781
Thrombocytopenia-absent radius syndrome.
Toriello HV.
Semin Thromb Hemost. 2011 Sep;37(6):707-12. doi: 10.1055/s-0031-1291381. Epub 2011 Nov 18.
PMID:22102274
Thrombocytopenia absent radius syndrome.
de Ybarrondo L, Barratt MS.
Pediatr Rev. 2011 Sep;32(9):399-400; discussion 400. doi: 10.1542/pir.32-9-399.
PMID:21885665
Thrombocytopenia Absent Radius (TAR)-Syndrome: From Current Genetics to Patient Self-Empowerment.
Strauss G, Mott K, Klopocki E, Schulze H.
Hamostaseologie. 2023 Aug;43(4):252-260. doi: 10.1055/a-2088-1801. Epub 2023 Aug 23.
PMID:37611607
Prenatal Diagnosis and Management of Thrombocytopenia-Absent Radius Syndrome.
Espinoza AF, Krispin E, Cortes MS, Kirk S, Hui SK, Wagner KB, Despotovic J, Shamshirsaz AA.
Neoreviews. 2022 Jun 1;23(6):e429-e433. doi: 10.1542/neo.23-6-e429.
PMID:35641461
Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in RBM8A That Expands the Spectrum of Null Alleles.
Monteiro C, Gonçalves A, Oliveira J, Salvado R, Tomaz J, Morais S, Lima M, Santos R.
Int J Mol Sci. 2022 Aug 25;23(17):9621. doi: 10.3390/ijms23179621.
PMID:36077017
The Pathogenesis of Radial Ray Deficiency in Thrombocytopenia-Absent Radius (TAR) Syndrome.
Al-Qattan MM.
J Coll Physicians Surg Pak. 2016 Nov;26(11):912-916.
PMID:27981927
Two-stage treatment of extremity deformities associated with thrombocytopenia-absent radius syndrome.
Akdemir M, Biçen Ç, Özkan M.
Acta Orthop Traumatol Turc. 2022 Nov;56(6):366-371. doi: 10.5152/j.aott.2022.21397.
PMID:36567538
Thrombocytopenia absent radius syndrome with Tetralogy of Fallot: a rare association.
Kumar C, Sharma D, Pandita A, Bhalerao S.
Int Med Case Rep J. 2015 Mar 27;8:81-5. doi: 10.2147/IMCRJ.S81770. eCollection 2015.
PMID:25908903
Expanding the phenotype of thrombocytopenia absent radius syndrome with hypospadias.
Miertuš J, Maltese PE, Hýblová M, Tomková E, Ďurovčíková D, Rísová V, Bertelli M.
J Biotechnol. 2020 Mar 10;311:44-48. doi: 10.1016/j.jbiotec.2020.02.011. Epub 2020 Feb 25.
PMID:32109542
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