Dysmorphic feature (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Dysmorphic feature" in English language version.

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doi.org

  • Reardon, W.; Donnai, D. (2007). "Dysmorphology demystified". Archives of Disease in Childhood: Fetal and Neonatal Edition. 92 (3): F225 – F229. doi:10.1136/adc.2006.110619. PMC 2675338. PMID 17449858.
  • Fryns, J.-P.; De Ravel, T. D. (2002). "London Dysmorphology Database, London Neurogenetics Database and Dysmorphology Photo Library on CD-ROM \Version 3] 2001". Human Genetics. 111 (1): 113. doi:10.1007/s00439-002-0759-6. PMID 12136245. S2CID 20083700.
  • Nowaczyk, M. J.; Waye, J. S. (2001). "The Smith-Lemli-Opitz syndrome: A novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology". Clinical Genetics. 59 (6): 375–386. doi:10.1034/j.1399-0004.2001.590601.x. PMID 11453964. S2CID 9146017.
  • Ferry, Quentin; Steinberg, Julia; Webber, Caleb; FitzPatrick, David R; Ponting, Chris P; Zisserman, Andrew; Nellåker, Christoffer (2014-06-24). Tollman, Stephen (ed.). "Diagnostically relevant facial gestalt information from ordinary photos". eLife. 3: e02020. doi:10.7554/eLife.02020. ISSN 2050-084X. PMC 4067075. PMID 24963138.
  • Gurovich, Yaron; Hanani, Yair; Bar, Omri; Nadav, Guy; Fleischer, Nicole; Gelbman, Dekel; Basel-Salmon, Lina; Krawitz, Peter M.; Kamphausen, Susanne B.; Zenker, Martin; Bird, Lynne M. (January 2019). "Identifying facial phenotypes of genetic disorders using deep learning". Nature Medicine. 25 (1): 60–64. doi:10.1038/s41591-018-0279-0. ISSN 1546-170X. PMID 30617323. S2CID 57574514.

medrxiv.org

  • Peng, Chengyao; Dieck, Simon; Schmid, Alexander; Ahmad, Ashar; Knaus, Alexej; Wenzel, Maren; Mehnert, Laura; Zirn, Birgit; Haack, Tobias; Ossowski, Stephan; Wagner, Matias; Brunet, Teresa; Ehmke, Nadja; Danyel, Magdalena; Rosnev, Stanislav; Kamphans, Tom; Nadav, Guy; Fleischer, Nicole; Fröhlich, Holger; Krawitz, Peter (2021). "CADA: Phenotype-driven gene prioritization based on a case-enriched knowledge graph". pp. lqab078. medRxiv 10.1101/2021.03.01.21251705.
  • Hsieh, Tzung-Chien; Bar-Haim, Aviram; Moosa, Shahida; Ehmke, Nadja; Gripp, Karen W.; Pantel, Jean Tori; Danyel, Magdalena; Mensah, Martin Atta; Horn, Denise; Fleischer, Nicole; Bonini, Guilherme (2021-01-04). "GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors". medRxiv 10.1101/2020.12.28.20248193v1.

nature.com

nih.gov

pubmed.ncbi.nlm.nih.gov

  • Reardon, W.; Donnai, D. (2007). "Dysmorphology demystified". Archives of Disease in Childhood: Fetal and Neonatal Edition. 92 (3): F225 – F229. doi:10.1136/adc.2006.110619. PMC 2675338. PMID 17449858.
  • Fryns, J.-P.; De Ravel, T. D. (2002). "London Dysmorphology Database, London Neurogenetics Database and Dysmorphology Photo Library on CD-ROM \Version 3] 2001". Human Genetics. 111 (1): 113. doi:10.1007/s00439-002-0759-6. PMID 12136245. S2CID 20083700.
  • Nowaczyk, M. J.; Waye, J. S. (2001). "The Smith-Lemli-Opitz syndrome: A novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology". Clinical Genetics. 59 (6): 375–386. doi:10.1034/j.1399-0004.2001.590601.x. PMID 11453964. S2CID 9146017.
  • Ferry, Quentin; Steinberg, Julia; Webber, Caleb; FitzPatrick, David R; Ponting, Chris P; Zisserman, Andrew; Nellåker, Christoffer (2014-06-24). Tollman, Stephen (ed.). "Diagnostically relevant facial gestalt information from ordinary photos". eLife. 3: e02020. doi:10.7554/eLife.02020. ISSN 2050-084X. PMC 4067075. PMID 24963138.
  • Gurovich, Yaron; Hanani, Yair; Bar, Omri; Nadav, Guy; Fleischer, Nicole; Gelbman, Dekel; Basel-Salmon, Lina; Krawitz, Peter M.; Kamphausen, Susanne B.; Zenker, Martin; Bird, Lynne M. (January 2019). "Identifying facial phenotypes of genetic disorders using deep learning". Nature Medicine. 25 (1): 60–64. doi:10.1038/s41591-018-0279-0. ISSN 1546-170X. PMID 30617323. S2CID 57574514.

ncbi.nlm.nih.gov

  • Reardon, W.; Donnai, D. (2007). "Dysmorphology demystified". Archives of Disease in Childhood: Fetal and Neonatal Edition. 92 (3): F225 – F229. doi:10.1136/adc.2006.110619. PMC 2675338. PMID 17449858.
  • Ferry, Quentin; Steinberg, Julia; Webber, Caleb; FitzPatrick, David R; Ponting, Chris P; Zisserman, Andrew; Nellåker, Christoffer (2014-06-24). Tollman, Stephen (ed.). "Diagnostically relevant facial gestalt information from ordinary photos". eLife. 3: e02020. doi:10.7554/eLife.02020. ISSN 2050-084X. PMC 4067075. PMID 24963138.

semanticscholar.org

api.semanticscholar.org

worldcat.org

search.worldcat.org