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01/2017, ISBN 9781498775984
Book
Human Mutation, ISSN 1059-7794, 05/2017, Volume 38, Issue 5, pp. 469 - 469
Journal Article
Ultrasound in Medicine & Biology, ISSN 0301-5629, 2007, Volume 33, Issue 10, pp. 1676 - 1678
Journal Article
06/2011, 1, Chapman & Hall/CRC Mathematical and Computational Biology, ISBN 1466548061, 517
Introduction to Bio-Ontologies explores the computational background of ontologies. Emphasizing computational and algorithmic issues surrounding... 
Bioinformatics | Biochemical Engineering | Data Preparation & Mining | Ontologies (Information retrieval) | Math & Science | Linked Data
eBook
The Journal of Urology, ISSN 0022-5347, 04/2018, Volume 199, Issue 4, pp. e244 - e245
Journal Article
Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz, ISSN 1436-9990, 01/2017, Volume 60, Issue 5, pp. 542 - 549
Eine Herausforderung für die genomische personalisierte Medizin wird es sein, verlässliche Methoden zur Erfassung und Ähnlichkeitsberechnung von klinischen... 
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 08/2019, Volume 14, Issue 1, pp. 200 - 200
Professor Michael Larsen, who is a member of the ERN-EYE Ontology Study Group and co-chair of Workgroup on Retinal Rare Eye Diseases (WG1), was inadvertently... 
Eye diseases | Genetic aspects | Index Medicus
Journal Article
Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz, ISSN 1436-9990, 05/2017, Volume 60, Issue 5, pp. 542 - 549
Journal Article
PLoS Genetics, ISSN 1553-7390, 04/2014, Volume 10, Issue 4
  The use of model organisms as tools for the investigation of human genetic variation has significantly and rapidly advanced our understanding of the... 
Studies | Genetic disorders | Disease | Genes | Genomes | Organisms | Mutation | Family medical history
Journal Article
The Journal of Urology, ISSN 0022-5347, 04/2018, Volume 199, Issue 4, pp. e797 - e797
Journal Article
The Journal of Urology, ISSN 0022-5347, 04/2018, Volume 199, Issue 4, pp. e795 - e795
Journal Article
Human Mutation, ISSN 1059-7794, 12/2013, Volume 34, Issue 12, pp. v - v
Copy number variation (CNV) is a major cause of structural genome variation. By a common definition, a CNV represents a structural variant that may range in... 
Female | Male | Genetic Association Studies | Humans | DNA Copy Number Variations | GENETICS & HEREDITY | Index Medicus
Journal Article
Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz, ISSN 1436-9990, 05/2017, Volume 60, Issue 5, p. 542
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s00103-017-2538-5 Eine... 
Journal Article
Human Mutation, ISSN 1059-7794, 10/2015, Volume 36, Issue 10, pp. 989 - 997
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 05/2015, Volume 30, Issue 5, pp. 796 - 808
  MicroRNAs play important roles during cell reprogramming and differentiation. In this study, we identified the miR-497195 cluster, a member of the miR-15... 
Journal Article
BMC genomics, 05/2016, Volume 17, p. 388
The modelling of gene regulation is a major challenge in biomedical research. This process is dominated by transcription factors (TFs) and mutations in their... 
Transcription Factors - metabolism | Transcription Factors - chemistry | Computational Biology | Polymorphism, Single Nucleotide | Mutation | Transcription Factors - genetics | Binding Sites
Journal Article
Clinical Neurophysiology, ISSN 1388-2457, 05/2014, Volume 125, Issue 5, p. e12
We review the discovery of two genes disrupted in Mabry syndrome (hyperphosphatasia with developmental disability; OMIM#239300): a syndrome notable for... 
Genetic research | Genetic aspects
Journal Article
Clinical Neurophysiology, ISSN 1388-2457, 2013, Volume 125, Issue 5, pp. e12 - e12
We review the discovery of two genes disrupted in Mabry syndrome (hyperphosphatasia with developmental disability; OMIM#239300): a syndrome notable for... 
Neurology
Journal Article
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