(Q24657971)

10

Peter N Robinson

0 references

Sebastian Köhler

Sebastian Köhler

1

0 references

Claus E Ott

Claus E Ott

6

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Peter Krawitz

Peter Krawitz

3

0 references

Sebastian Bauer

4

Sebastian Bauer

0 references

Denise Horn

8

Denise Horn

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author name string

Marcel H Schulz

2

0 references

Sandra Dölken

5

0 references

Christine Mundlos

American Journal of Human Genetics

7

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language of work or name

English

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publication date

October 2009

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published in

0 references

volume

85

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page(s)

457-64

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issue

4

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cites work

The OBO Foundry: coordinated evolution of ontologies to support biomedical data integration

1 reference

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Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

7 April 2017

1 reference

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Gene ontology: tool for the unification of biology

7 April 2017

1 reference

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Aneurysm syndromes caused by mutations in the TGF-beta receptor

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756558

Investigating semantic similarity measures across the Gene Ontology: the relationship between sequence and annotation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756558

London Dysmorphology Database, London Neurogenetics Database and Dysmorphology Photo Library on CD-ROM [Version 3] 2001R. M. Winter, M. Baraitser, Oxford University Press, ISBN 019851-780, pound sterling 1595

7 April 2017

1 reference

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The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756558

Gene Ontology term overlap as a measure of gene functional similarity

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756558

Total ancestry measure: quantifying the similarity in tree-like classification, with genomic applications

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756558

Besides precision & recall: exploring alternative approaches to evaluating an automatic indexing tool for MEDLINE.

28 September 2017

1 reference

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Analysis of clinical features predicting etiologic yield in the assessment of global developmental delay

28 September 2017

1 reference

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Computer-assisted decision support for the diagnosis and treatment of infectious diseases in intensive care units

28 September 2017

1 reference

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Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness.

28 September 2017

1 reference

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POSSUM: the microcomputer laser-videodisk syndrome information system

28 September 2017

1 reference

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DXplain. An evolving diagnostic decision-support system

28 September 2017

1 reference

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Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics

28 September 2017

1 reference

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Quick medical reference (QMR) for diagnostic assistance.

30 May 2018

1 reference

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Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.

30 May 2018

1 reference

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Orphanet, an information site on rare diseases

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756558

Diagnostic yield of the comprehensive assessment of developmental delay/mental retardation in an institute of child neuropsychiatry.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2756558

Iliad: moving medical decision-making into new frontiers.

28 November 2018

1 reference

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Measuring semantic similarity between Gene Ontology terms

28 November 2018

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.AJHG.2009.09.003

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2009.09.003

1 reference

606413

606413

1 reference

1 reference

1 reference