TAR-Syndrom (German Wikipedia)

Analysis of information sources in references of the Wikipedia article "TAR-Syndrom" in German language version.

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doi.org

E. Klopocki, H. Schulze u. a.: Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. In: American Journal of Human Genetics. Band 80, Nummer 2, Februar 2007, S. 232–240, ISSN 0002-9297. doi:10.1086/510919. PMID 17236129. PMC 1785342 (freier Volltext).
Cornelis A. Albers, Dirk S. Paul, Harald Schulze, Kathleen Freson, Jonathan C. Stephens: Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. In: Nature Genetics. Band 44, Nr. 4, 26. Februar 2012, ISSN 1546-1718, S. 435–439, S1–2, doi:10.1038/ng.1083, PMID 22366785, PMC 3428915 (freier Volltext).
Maximilian Jameson-Lee, Katherine Chen, Ellen Ritchie, Tsiporah Shore, Omar Al-Khattab: Acute myeloid leukemia in a patient with thrombocytopenia with absent radii: A case report and review of the literature. In: Hematology/Oncology and Stem Cell Therapy. doi:10.1016/j.hemonc.2017.02.001 (elsevier.com [abgerufen am 12. Juli 2017]).
Übersicht über das Geschlechterverhältnis: Ali Houeijeh, Joris Andrieux, Pascale Saugier-Veber, Albert David, Alice Goldenberg: Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling. In: European Journal of Medical Genetics. Band 54, Nr. 5, September 2011, ISSN 1878-0849, S. e471–477, Tabelle 2, doi:10.1016/j.ejmg.2011.05.001, PMID 21635976.
Georgi Manukjan, Hendrik Bösing, Markus Schmugge, Gabriele Strauß, Harald Schulze: Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome. In: British Journal of Haematology. 31. August 2017, ISSN 1365-2141, doi:10.1111/bjh.14913, PMID 28857120.

elsevier.com

linkinghub.elsevier.com

Maximilian Jameson-Lee, Katherine Chen, Ellen Ritchie, Tsiporah Shore, Omar Al-Khattab: Acute myeloid leukemia in a patient with thrombocytopenia with absent radii: A case report and review of the literature. In: Hematology/Oncology and Stem Cell Therapy. doi:10.1016/j.hemonc.2017.02.001 (elsevier.com [abgerufen am 12. Juli 2017]).

nih.gov

ncbi.nlm.nih.gov

J. G. Hall, J. Levin, J. P. Kuhn, E. J. Ottenheimer, K. A. van Berkum: Thrombocytopenia with absent radius (TAR). In: Medicine. Band 48, Nr. 6, November 1969, ISSN 0025-7974, S. 411–439, PMID 4951233.
V. A. Hedberg, J. M. Lipton: Thrombocytopenia with absent radii. A review of 100 cases. In: The American Journal of Pediatric Hematology/Oncology. Band 10, Nr. 1, 1988, ISSN 0192-8562, S. 51–64, PMID 3056062.
E. Klopocki, H. Schulze u. a.: Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. In: American Journal of Human Genetics. Band 80, Nummer 2, Februar 2007, S. 232–240, ISSN 0002-9297. doi:10.1086/510919. PMID 17236129. PMC 1785342 (freier Volltext).
Cornelis A. Albers, Dirk S. Paul, Harald Schulze, Kathleen Freson, Jonathan C. Stephens: Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. In: Nature Genetics. Band 44, Nr. 4, 26. Februar 2012, ISSN 1546-1718, S. 435–439, S1–2, doi:10.1038/ng.1083, PMID 22366785, PMC 3428915 (freier Volltext).
Übersicht über das Geschlechterverhältnis: Ali Houeijeh, Joris Andrieux, Pascale Saugier-Veber, Albert David, Alice Goldenberg: Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling. In: European Journal of Medical Genetics. Band 54, Nr. 5, September 2011, ISSN 1878-0849, S. e471–477, Tabelle 2, doi:10.1016/j.ejmg.2011.05.001, PMID 21635976.
Georgi Manukjan, Hendrik Bösing, Markus Schmugge, Gabriele Strauß, Harald Schulze: Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome. In: British Journal of Haematology. 31. August 2017, ISSN 1365-2141, doi:10.1111/bjh.14913, PMID 28857120.

zdb-katalog.de

J. G. Hall, J. Levin, J. P. Kuhn, E. J. Ottenheimer, K. A. van Berkum: Thrombocytopenia with absent radius (TAR). In: Medicine. Band 48, Nr. 6, November 1969, ISSN 0025-7974, S. 411–439, PMID 4951233.
V. A. Hedberg, J. M. Lipton: Thrombocytopenia with absent radii. A review of 100 cases. In: The American Journal of Pediatric Hematology/Oncology. Band 10, Nr. 1, 1988, ISSN 0192-8562, S. 51–64, PMID 3056062.
E. Klopocki, H. Schulze u. a.: Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. In: American Journal of Human Genetics. Band 80, Nummer 2, Februar 2007, S. 232–240, ISSN 0002-9297. doi:10.1086/510919. PMID 17236129. PMC 1785342 (freier Volltext).
Cornelis A. Albers, Dirk S. Paul, Harald Schulze, Kathleen Freson, Jonathan C. Stephens: Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. In: Nature Genetics. Band 44, Nr. 4, 26. Februar 2012, ISSN 1546-1718, S. 435–439, S1–2, doi:10.1038/ng.1083, PMID 22366785, PMC 3428915 (freier Volltext).
Übersicht über das Geschlechterverhältnis: Ali Houeijeh, Joris Andrieux, Pascale Saugier-Veber, Albert David, Alice Goldenberg: Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling. In: European Journal of Medical Genetics. Band 54, Nr. 5, September 2011, ISSN 1878-0849, S. e471–477, Tabelle 2, doi:10.1016/j.ejmg.2011.05.001, PMID 21635976.
Georgi Manukjan, Hendrik Bösing, Markus Schmugge, Gabriele Strauß, Harald Schulze: Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome. In: British Journal of Haematology. 31. August 2017, ISSN 1365-2141, doi:10.1111/bjh.14913, PMID 28857120.