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Sandra C Doelken

Showing results (1-10 of 16) with videos related to

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Human Mutation|May 11, 2012
Ontological phenotype standards for neurogeneticsSebastian Köhler, Sandra C Doelken, Ana Rath, et al.
American Journal of Medical Genetics. Part A|December 15, 2012
Proximal and distal 15q25.2 microdeletions-genotype-phenotype delineation of two neurodevelopmental susceptibility lociSandra C Doelken, Karl Seeger, Patrick Hundsdoerfer, et al.
Plos One|April 25, 2012
Functional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevanceJulia Zimmer, Sandra C Doelken, Denise Horn, et al.
Journal of Medical Genetics|May 28, 2013
Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusionAleksander Jamsheer, Tomasz Zemojtel, Mateusz Kolanczyk, et al.
Orphanet Journal of Rare Diseases|September 19, 2014
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated familiesNaeimeh Tayebi, Aleksander Jamsheer, Ricarda Flöttmann, et al.
Journal of Medical Genetics|October 5, 2014
Clinical interpretation of CNVs with cross-species phenotype dataSebastian Köhler, Uwe Schoeneberg, Johanna Christina Czeschik, et al.
F1000Research|February 21, 2014
Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical researchSebastian Köhler, Sandra C Doelken, Barbara J Ruef, et al.
Plos Genetics|October 8, 2013
A GDF5 point mutation strikes twice--causing BDA1 and SYNS2Elisa Degenkolbe, Jana König, Julia Zimmer, et al.
Breast Cancer Research and Treatment|April 27, 2012
Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical managementSimone Heidemann, Christine Fischer, Christoph Engel, et al.
Human Mutation|February 15, 2012
MouseFinder: Candidate disease genes from mouse phenotype dataChao-Kung Chen, Christopher J Mungall, Georgios V Gkoutos, et al.
Pageof 2

Showing results (1-10 of 16) with videos related to

Sort By:
Pageof 2
Human Mutation|May 11, 2012
Ontological phenotype standards for neurogeneticsSebastian Köhler, Sandra C Doelken, Ana Rath, et al.
American Journal of Medical Genetics. Part A|December 15, 2012
Proximal and distal 15q25.2 microdeletions-genotype-phenotype delineation of two neurodevelopmental susceptibility lociSandra C Doelken, Karl Seeger, Patrick Hundsdoerfer, et al.
Plos One|April 25, 2012
Functional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevanceJulia Zimmer, Sandra C Doelken, Denise Horn, et al.
Journal of Medical Genetics|May 28, 2013
Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusionAleksander Jamsheer, Tomasz Zemojtel, Mateusz Kolanczyk, et al.
Orphanet Journal of Rare Diseases|September 19, 2014
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated familiesNaeimeh Tayebi, Aleksander Jamsheer, Ricarda Flöttmann, et al.
Journal of Medical Genetics|October 5, 2014
Clinical interpretation of CNVs with cross-species phenotype dataSebastian Köhler, Uwe Schoeneberg, Johanna Christina Czeschik, et al.
F1000Research|February 21, 2014
Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical researchSebastian Köhler, Sandra C Doelken, Barbara J Ruef, et al.
Plos Genetics|October 8, 2013
A GDF5 point mutation strikes twice--causing BDA1 and SYNS2Elisa Degenkolbe, Jana König, Julia Zimmer, et al.
Breast Cancer Research and Treatment|April 27, 2012
Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical managementSimone Heidemann, Christine Fischer, Christoph Engel, et al.
Human Mutation|February 15, 2012
MouseFinder: Candidate disease genes from mouse phenotype dataChao-Kung Chen, Christopher J Mungall, Georgios V Gkoutos, et al.
Pageof 2