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PURA-Syndrom (German Wikipedia)

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

refsWebsite
Global rank German rank
5doi.org
2nd place
3rd place
5nih.gov
4th place
7th place
3zdb-katalog.de
123rd place
6th place
2medlineplus.gov
1,581st place
low place
1orpha.net
3,537th place
429th place
1purasyndrome.org
low place
low place
1omim.org
4,380th place
781st place
1jax.org
low place
low place
1genecards.org
low place
low place
1bmj.com
1,226th place
1,116th place

bmj.com

jmg.bmj.com

  • Margot R. F. Reijnders, Robert Janowski, Mohsan Alvi, Jay E. Self, Ton J. van Essen, Maaike Vreeburg, Rob P. W. Rouhl, Servi J. C. Stevens, Alexander P. A. Stegmann, Jolanda Schieving, Rolph Pfundt, Katinke van Dijk et al.: PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. In: Journal of Medical Genetics. 55. Jahrgang, Nr. 2, 1. Februar 2018, ISSN 0022-2593, S. 104–113, doi:10.1136/jmedgenet-2017-104946, PMID 29097605, PMC 5800346 (freier Volltext) – (englisch, bmj.com).

doi.org

  • S. R. Lalani, J. Zhang, C. P. Schaaf et al.: Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. In: American Journal of Human Genetics. Band 95, Nummer 5, November 2014, S. 579–583, doi:10.1016/j.ajhg.2014.09.014, PMID 25439098, PMC 4225583 (freier Volltext).
  • Yuya Fukuda, Yoshimasa Kudo, Makoto Saito, Tadashi Kaname, Tohru Oota, Reikichi Shoji: Expanding the PURA syndrome phenotype with manifestations in a Japanese female patient. In: Human Genome Variation. 9. Jahrgang, Nr. 1, 19. April 2022, ISSN 2054-345X, S. 11, doi:10.1038/s41439-022-00189-7, PMID 35440576, PMC 9019084 (freier Volltext) – (englisch).
  • M. Nogueira, C. Melo, A. Grangeia, T. Magalhães, C. Soares, R. Dias, J. Fonseca, M. Sampaio, R. Sousa: PURA syndrome in a child with severe developmental delay: a challenging diagnosis. In: Revista de Neurologia (videnze). 74. Jahrgang, Nr. 05, 1. März 2022, S. 170–173, doi:10.33588/rn.7405.2021068, PMID 35211951 (englisch).
  • Margot R. F. Reijnders, Robert Janowski, Mohsan Alvi, Jay E. Self, Ton J. van Essen, Maaike Vreeburg, Rob P. W. Rouhl, Servi J. C. Stevens, Alexander P. A. Stegmann, Jolanda Schieving, Rolph Pfundt, Katinke van Dijk et al.: PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. In: Journal of Medical Genetics. 55. Jahrgang, Nr. 2, 1. Februar 2018, ISSN 0022-2593, S. 104–113, doi:10.1136/jmedgenet-2017-104946, PMID 29097605, PMC 5800346 (freier Volltext) – (englisch, bmj.com).
  • Steven Trau, Carolyn Pizoli: PURA Syndrome and Myotonia: A Case Report and Review of the Literature (P3.336). In: Neurology. 90. Jahrgang, 15 Supplement, 10. April 2018, ISSN 0028-3878, doi:10.1212/WNL.90.15_supplement.P3.336 (englisch).

genecards.org

jax.org

informatics.jax.org

medlineplus.gov

nih.gov

ncbi.nlm.nih.gov

  • S. R. Lalani, J. Zhang, C. P. Schaaf et al.: Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. In: American Journal of Human Genetics. Band 95, Nummer 5, November 2014, S. 579–583, doi:10.1016/j.ajhg.2014.09.014, PMID 25439098, PMC 4225583 (freier Volltext).
  • Yuya Fukuda, Yoshimasa Kudo, Makoto Saito, Tadashi Kaname, Tohru Oota, Reikichi Shoji: Expanding the PURA syndrome phenotype with manifestations in a Japanese female patient. In: Human Genome Variation. 9. Jahrgang, Nr. 1, 19. April 2022, ISSN 2054-345X, S. 11, doi:10.1038/s41439-022-00189-7, PMID 35440576, PMC 9019084 (freier Volltext) – (englisch).
  • Margot R. F. Reijnders, Richard J. Leventer, Bo Hoon Lee, Diana Baralle, Paulo Selber, Alex R. Paciorkowski, David Hunt: PURA-Related Neurodevelopmental Disorders. In: Margaret P. Adam, Holly H. Ardinger, Roberta A. Pagon, Stephanie E. Wallace (Hrsg.): GeneReviews®, University of Washington, Seattle, 1993; PMID 28448108, Epub 27. April 2017 (englisch).
  • M. Nogueira, C. Melo, A. Grangeia, T. Magalhães, C. Soares, R. Dias, J. Fonseca, M. Sampaio, R. Sousa: PURA syndrome in a child with severe developmental delay: a challenging diagnosis. In: Revista de Neurologia (videnze). 74. Jahrgang, Nr. 05, 1. März 2022, S. 170–173, doi:10.33588/rn.7405.2021068, PMID 35211951 (englisch).
  • Margot R. F. Reijnders, Robert Janowski, Mohsan Alvi, Jay E. Self, Ton J. van Essen, Maaike Vreeburg, Rob P. W. Rouhl, Servi J. C. Stevens, Alexander P. A. Stegmann, Jolanda Schieving, Rolph Pfundt, Katinke van Dijk et al.: PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. In: Journal of Medical Genetics. 55. Jahrgang, Nr. 2, 1. Februar 2018, ISSN 0022-2593, S. 104–113, doi:10.1136/jmedgenet-2017-104946, PMID 29097605, PMC 5800346 (freier Volltext) – (englisch, bmj.com).

omim.org

orpha.net

purasyndrome.org

zdb-katalog.de

  • Yuya Fukuda, Yoshimasa Kudo, Makoto Saito, Tadashi Kaname, Tohru Oota, Reikichi Shoji: Expanding the PURA syndrome phenotype with manifestations in a Japanese female patient. In: Human Genome Variation. 9. Jahrgang, Nr. 1, 19. April 2022, ISSN 2054-345X, S. 11, doi:10.1038/s41439-022-00189-7, PMID 35440576, PMC 9019084 (freier Volltext) – (englisch).
  • Margot R. F. Reijnders, Robert Janowski, Mohsan Alvi, Jay E. Self, Ton J. van Essen, Maaike Vreeburg, Rob P. W. Rouhl, Servi J. C. Stevens, Alexander P. A. Stegmann, Jolanda Schieving, Rolph Pfundt, Katinke van Dijk et al.: PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. In: Journal of Medical Genetics. 55. Jahrgang, Nr. 2, 1. Februar 2018, ISSN 0022-2593, S. 104–113, doi:10.1136/jmedgenet-2017-104946, PMID 29097605, PMC 5800346 (freier Volltext) – (englisch, bmj.com).
  • Steven Trau, Carolyn Pizoli: PURA Syndrome and Myotonia: A Case Report and Review of the Literature (P3.336). In: Neurology. 90. Jahrgang, 15 Supplement, 10. April 2018, ISSN 0028-3878, doi:10.1212/WNL.90.15_supplement.P3.336 (englisch).