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Kim Brugger

Showing results (1-10 of 12) with videos related to

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Bioinformatics (Oxford, England)|May 7, 2016
gEVAL - a web-based browser for evaluating genome assembliesWilliam Chow, Kim Brugger, Mario Caccamo, et al.
American Journal of Medical Genetics. Part A|March 22, 2016
Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutationJennifer Hague, Isabelle Delon, Kim Brugger, et al.
BMC Nephrology|June 3, 2014
Unilateral hypoplastic kidney - a novel highly penetrant feature of familial juvenile hyperuricaemic nephropathyLucy A Plumb, Matko Marlais, Agnieszka Bierzynska, et al.
American Journal of Medical Genetics. Part A|May 13, 2017
Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutationJennifer Hague, Isabelle Delon, Kim Brugger, et al.
BMC Nephrology|July 14, 2017
Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case reportRhian L Clissold, Helen C Clarke, Olivera Spasic-Boskovic, et al.
Molecular Microbiology|January 22, 2005
Identification of novel non-coding RNAs as potential antisense regulators in the archaeon Sulfolobus solfataricusThean-Hock Tang, Norbert Polacek, Marek Zywicki, et al.
Neurogenetics|January 8, 2017
Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected childKatherine Schon, Olivera Spasic-Boskovic, Kim Brugger, et al.
Molecular Cell|January 10, 2012
Structure and mechanism of the CMR complex for CRISPR-mediated antiviral immunityJing Zhang, Christophe Rouillon, Melina Kerou, et al.
European Journal of Immunology|October 1, 2015
Epigenetic analysis of regulatory T cells using multiplex bisulfite sequencingDaniel B Rainbow, Xin Yang, Oliver Burren, et al.
The Journal of Molecular Diagnostics : JMD|July 14, 2015
Somatic Mutation Screening Using Archival Formalin-Fixed, Paraffin-Embedded Tissues by Fluidigm Multiplex PCR and Illumina SequencingMing Wang, Leire Escudero-Ibarz, Sarah Moody, et al.
Pageof 2

Showing results (1-10 of 12) with videos related to

Sort By:
Pageof 2
Bioinformatics (Oxford, England)|May 7, 2016
gEVAL - a web-based browser for evaluating genome assembliesWilliam Chow, Kim Brugger, Mario Caccamo, et al.
American Journal of Medical Genetics. Part A|March 22, 2016
Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutationJennifer Hague, Isabelle Delon, Kim Brugger, et al.
BMC Nephrology|June 3, 2014
Unilateral hypoplastic kidney - a novel highly penetrant feature of familial juvenile hyperuricaemic nephropathyLucy A Plumb, Matko Marlais, Agnieszka Bierzynska, et al.
American Journal of Medical Genetics. Part A|May 13, 2017
Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutationJennifer Hague, Isabelle Delon, Kim Brugger, et al.
BMC Nephrology|July 14, 2017
Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case reportRhian L Clissold, Helen C Clarke, Olivera Spasic-Boskovic, et al.
Molecular Microbiology|January 22, 2005
Identification of novel non-coding RNAs as potential antisense regulators in the archaeon Sulfolobus solfataricusThean-Hock Tang, Norbert Polacek, Marek Zywicki, et al.
Neurogenetics|January 8, 2017
Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected childKatherine Schon, Olivera Spasic-Boskovic, Kim Brugger, et al.
Molecular Cell|January 10, 2012
Structure and mechanism of the CMR complex for CRISPR-mediated antiviral immunityJing Zhang, Christophe Rouillon, Melina Kerou, et al.
European Journal of Immunology|October 1, 2015
Epigenetic analysis of regulatory T cells using multiplex bisulfite sequencingDaniel B Rainbow, Xin Yang, Oliver Burren, et al.
The Journal of Molecular Diagnostics : JMD|July 14, 2015
Somatic Mutation Screening Using Archival Formalin-Fixed, Paraffin-Embedded Tissues by Fluidigm Multiplex PCR and Illumina SequencingMing Wang, Leire Escudero-Ibarz, Sarah Moody, et al.
Pageof 2