Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 [Orphanet, an information site on rare diseases].

Literature DB >> 12655825

[Orphanet, an information site on rare diseases].

Ségolène Aymé¹.

Abstract

Mesh：

Year: 2003 PMID： 12655825

Source DB: PubMed Journal: Soins ISSN： 0038-0814

Keyword Cloud
Cited

× No keyword cloud information.

17 in total

1. The orphan disease networks.

Authors: Minlu Zhang; Cheng Zhu; Alexis Jacomy; Long J Lu; Anil G Jegga
Journal: Am J Hum Genet Date: 2011-06-10 Impact factor: 11.025

2. Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach.

Authors: Chao Wu; Batsal Devkota; Perry Evans; Xiaonan Zhao; Samuel W Baker; Rojeen Niazi; Kajia Cao; Michael A Gonzalez; Pushkala Jayaraman; Laura K Conlin; Bryan L Krock; Matthew A Deardorff; Nancy B Spinner; Ian D Krantz; Avni B Santani; Ahmad N Abou Tayoun; Mahdi Sarmady
Journal: Eur J Hum Genet Date: 2019-01-09 Impact factor: 4.246

3. Bayesian ontology querying for accurate and noise-tolerant semantic searches.

Authors: Sebastian Bauer; Sebastian Köhler; Marcel H Schulz; Peter N Robinson
Journal: Bioinformatics Date: 2012-07-26 Impact factor: 6.937

4. 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

[Orphanet, an information site on rare diseases].

1. The orphan disease networks.

2. Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach.

3. Bayesian ontology querying for accurate and noise-tolerant semantic searches.

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

5. The biological coherence of human phenome databases.

6. Clinical diagnostics in human genetics with semantic similarity searches in ontologies.

7. Global analysis of the human pathophenotypic similarity gene network merges disease module components.

8. Linking gene expression to phenotypes via pathway information.

9. A vertex similarity-based framework to discover and rank orphan disease-related genes.

10. Using association rule mining to determine promising secondary phenotyping hypotheses.