Literature DB >> 9885859

[Information on rare diseases: the Orphanet project].

S Aymé1, B Urbero, D Oziel, E Lecouturier, A C Biscarat.   

Abstract

Mesh：

Year:  1998        PMID： 9885859

Source DB:  PubMed          Journal:  Rev Med Interne        ISSN： 0248-8663            Impact factor:   0.728


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  9 in total

Review 1.  Rare-disease genetics in the era of next-generation sequencing: discovery to translation.

Authors:  Kym M Boycott; Megan R Vanstone; Dennis E Bulman; Alex E MacKenzie
Journal:  Nat Rev Genet       Date:  2013-09-03       Impact factor: 53.242

2.  From the transcription of genes involved in ectodermal dysplasias to the understanding of associated dental anomalies.

Authors:  V Laugel-Haushalter; A Langer; J Marrie; V Fraulob; B Schuhbaur; M Koch-Phillips; P Dollé; A Bloch-Zupan
Journal:  Mol Syndromol       Date:  2012-09-27

3.  The LORIS MyeliNeuroGene rare disease database for natural history studies and clinical trial readiness.

Authors:  Aaron Spahr; Zaliqa Rosli; Mélanie Legault; Luan T Tran; Simon Fournier; Helia Toutounchi; Lama Darbelli; Cécile Madjar; Cassandra Lucia; Marie-Lou St-Jean; Samir Das; Alan C Evans; Geneviève Bernard
Journal:  Orphanet J Rare Dis       Date:  2021-07-23       Impact factor: 4.123

4.  Translating the Foundational Model of Anatomy into French using knowledge-based and lexical methods.

Authors:  Tayeb Merabti; Lina F Soualmia; Julien Grosjean; Olivier Palombi; Jean-Michel Müller; Stéfan J Darmoni
Journal:  BMC Med Inform Decis Mak       Date:  2011-10-26       Impact factor: 2.796

5.  FLAGS, frequently mutated genes in public exomes.

Authors:  Casper Shyr; Maja Tarailo-Graovac; Michael Gottlieb; Jessica J Y Lee; Clara van Karnebeek; Wyeth W Wasserman
Journal:  BMC Med Genomics       Date:  2014-12-03       Impact factor: 3.063

Review 6.  Genome sequencing and implications for rare disorders.

Authors:  Jennifer E Posey
Journal:  Orphanet J Rare Dis       Date:  2019-06-24       Impact factor: 4.123

Review 7.  Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India.

Authors:  Arshia Angural; Akshi Spolia; Ankit Mahajan; Vijeshwar Verma; Ankush Sharma; Parvinder Kumar; Manoj Kumar Dhar; Kamal Kishore Pandita; Ekta Rai; Swarkar Sharma
Journal:  Front Genet       Date:  2020-04-30       Impact factor: 4.599

Review 8.  Computational approaches for predicting variant impact: An overview from resources, principles to applications.

Authors:  Ye Liu; William S B Yeung; Philip C N Chiu; Dandan Cao
Journal:  Front Genet       Date:  2022-09-29       Impact factor: 4.772

9.  Computational resources associating diseases with genotypes, phenotypes and exposures.

Authors:  Wenliang Zhang; Haiyue Zhang; Huan Yang; Miaoxin Li; Zhi Xie; Weizhong Li
Journal:  Brief Bioinform       Date:  2019-11-27       Impact factor: 11.622
  9 in total

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