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Pascual-Castroviejo syndrome type 1 (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Pascual-Castroviejo syndrome type 1" in English language version.

refsWebsite
Global rank English rank
3doi.org
2nd place
2nd place
3worldcat.org
5th place
5th place
1orpha.net
3,537th place
7,177th place
1nih.gov
4th place
4th place

doi.org

  • Alanay, Yasemin; Ergüner, Bekir; Utine, Eda; Haçarız, Orçun; Kiper, Pelin Ozlem Simsek; Taşkıran, Ekim Zihni; Perçin, Ferda; Uz, Elif; Sağıroğlu, Mahmut Şamil; Yuksel, Bayram; Boduroglu, Koray; Akarsu, Nurten Ayse (November 5, 2013). "TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia". American Journal of Medical Genetics Part A. 164 (2). Wiley: 291–304. doi:10.1002/ajmg.a.36248. ISSN 1552-4825.
  • Pehlivan, Davut; Karaca, Ender; Aydin, Hatip; Beck, Christine R; Gambin, Tomasz; Muzny, Donna M; Bilge Geckinli, B; Karaman, Ali; Jhangiani, Shalini N; Gibbs, Richard A; Lupski, James R (January 15, 2014). "Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia". European Journal of Human Genetics. 22 (9). Springer Science and Business Media LLC: 1145–1148. doi:10.1038/ejhg.2013.291. ISSN 1018-4813. PMC 4135405.
  • Rufo-Campos, Miguel; Riveros-Huckstadt, Pilar; RodrÍguez-Criado, Germán; Hernández-Soto, RocÍo (2004). "Another case of cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome)". Brain and Development. 26 (3). Elsevier BV: 209–212. doi:10.1016/s0387-7604(03)00133-5. ISSN 0387-7604.

nih.gov

ncbi.nlm.nih.gov

orpha.net

  • "Orphanet: Cerebrofaciothoracic dysplasia". Orphanet. October 23, 2023. Retrieved October 24, 2023.

worldcat.org

search.worldcat.org

  • Alanay, Yasemin; Ergüner, Bekir; Utine, Eda; Haçarız, Orçun; Kiper, Pelin Ozlem Simsek; Taşkıran, Ekim Zihni; Perçin, Ferda; Uz, Elif; Sağıroğlu, Mahmut Şamil; Yuksel, Bayram; Boduroglu, Koray; Akarsu, Nurten Ayse (November 5, 2013). "TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia". American Journal of Medical Genetics Part A. 164 (2). Wiley: 291–304. doi:10.1002/ajmg.a.36248. ISSN 1552-4825.
  • Pehlivan, Davut; Karaca, Ender; Aydin, Hatip; Beck, Christine R; Gambin, Tomasz; Muzny, Donna M; Bilge Geckinli, B; Karaman, Ali; Jhangiani, Shalini N; Gibbs, Richard A; Lupski, James R (January 15, 2014). "Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia". European Journal of Human Genetics. 22 (9). Springer Science and Business Media LLC: 1145–1148. doi:10.1038/ejhg.2013.291. ISSN 1018-4813. PMC 4135405.
  • Rufo-Campos, Miguel; Riveros-Huckstadt, Pilar; RodrÍguez-Criado, Germán; Hernández-Soto, RocÍo (2004). "Another case of cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome)". Brain and Development. 26 (3). Elsevier BV: 209–212. doi:10.1016/s0387-7604(03)00133-5. ISSN 0387-7604.