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Birgit H Funke

Showing results (11-20 of 39) with videos related to

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Clinical Chemistry|February 11, 2016
Classifying Germline Sequence Variants in the Era of Next-Generation SequencingLinnea M Baudhuin, Birgit H Funke, Lora H Bean, et al.
The Journal of Molecular Diagnostics : JMD|December 16, 2023
Slice Testing-Considerations from Ordering to Reporting: A Joint Report of the Association for Molecular Pathology, College of American Pathologists, and National Society of Genetic CounselorsJeffrey A SoRelle, Birgit H Funke, Celeste C Eno, et al.
Science (New York, N.Y.)|May 30, 2009
A role for the CHC22 clathrin heavy-chain isoform in human glucose metabolismStéphane Vassilopoulos, Christopher Esk, Sachiko Hoshino, et al.
Cardiogenetics|September 25, 2013
Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variantQuinn S Wells, Natalie L Ausborn, Birgit H Funke, et al.
Molecular Medicine (Cambridge, Mass.)|July 12, 2007
Analysis of TBX1 variation in patients with psychotic and affective disordersBirgit H Funke, Todd Lencz, Christine T Finn, et al.
The New England Journal of Medicine|August 18, 2016
Genetic Misdiagnoses and the Potential for Health DisparitiesArjun K Manrai, Birgit H Funke, Heidi L Rehm, et al.
Molecular Genetics & Genomic Medicine|April 12, 2016
Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathiesOzge Ceyhan-Birsoy, Trevor J Pugh, Mark J Bowser, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 13, 2015
Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretationAhmad N Abou Tayoun, Saeed H Al Turki, Andrea M Oza, et al.
Genetic Testing|March 31, 2007
A novel, single nucleotide polymorphism-based assay to detect 22q11 deletionsBirgit H Funke, Alison C Brown, Marco F Ramoni, et al.
The Journal of Molecular Diagnostics : JMD|August 27, 2014
Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homologyDiana Mandelker, Sami S Amr, Trevor Pugh, et al.
Pageof 4

Showing results (11-20 of 39) with videos related to

Sort By:
Pageof 4
Clinical Chemistry|February 11, 2016
Classifying Germline Sequence Variants in the Era of Next-Generation SequencingLinnea M Baudhuin, Birgit H Funke, Lora H Bean, et al.
The Journal of Molecular Diagnostics : JMD|December 16, 2023
Slice Testing-Considerations from Ordering to Reporting: A Joint Report of the Association for Molecular Pathology, College of American Pathologists, and National Society of Genetic CounselorsJeffrey A SoRelle, Birgit H Funke, Celeste C Eno, et al.
Science (New York, N.Y.)|May 30, 2009
A role for the CHC22 clathrin heavy-chain isoform in human glucose metabolismStéphane Vassilopoulos, Christopher Esk, Sachiko Hoshino, et al.
Cardiogenetics|September 25, 2013
Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variantQuinn S Wells, Natalie L Ausborn, Birgit H Funke, et al.
Molecular Medicine (Cambridge, Mass.)|July 12, 2007
Analysis of TBX1 variation in patients with psychotic and affective disordersBirgit H Funke, Todd Lencz, Christine T Finn, et al.
The New England Journal of Medicine|August 18, 2016
Genetic Misdiagnoses and the Potential for Health DisparitiesArjun K Manrai, Birgit H Funke, Heidi L Rehm, et al.
Molecular Genetics & Genomic Medicine|April 12, 2016
Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathiesOzge Ceyhan-Birsoy, Trevor J Pugh, Mark J Bowser, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 13, 2015
Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretationAhmad N Abou Tayoun, Saeed H Al Turki, Andrea M Oza, et al.
Genetic Testing|March 31, 2007
A novel, single nucleotide polymorphism-based assay to detect 22q11 deletionsBirgit H Funke, Alison C Brown, Marco F Ramoni, et al.
The Journal of Molecular Diagnostics : JMD|August 27, 2014
Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homologyDiana Mandelker, Sami S Amr, Trevor Pugh, et al.
Pageof 4