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G Biesecker

Showing results (121-130 of 475) with videos related to

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Clinical Chemistry|February 6, 2016
Systematic Evaluation of Sanger Validation of Next-Generation Sequencing VariantsTyler F Beck, James C Mullikin, , et al.
Current Protocols in Human Genetics|September 4, 2019
Overview of Specifications to the ACMG/AMP Variant Interpretation GuidelinesSteven M Harrison, Leslie G Biesecker, Heidi L Rehm
American Journal of Medical Genetics. Part A|October 1, 2003
Proteus syndrome: misdiagnosis with PTEN mutationsM Michael Cohen, Joyce T Turner, Leslie G Biesecker
JAMA|October 17, 2018
Distinguishing Variant Pathogenicity From Genetic Diagnosis: How to Know Whether a Variant Causes a ConditionLeslie G Biesecker, Robert L Nussbaum, Heidi L Rehm
Proceedings of the National Academy of Sciences of the United States of America|February 1, 1979
Membrane attack complex of complement: generation of high-affinity phospholipid binding sites by fusion of five hydrophilic plasma proteinsE R Podack, G Biesecker, H J Müller-Eberhard
JAMA|August 7, 2013
Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptionalRobert C Green, James R Lupski, Leslie G Biesecker
Clinical Immunology and Immunopathology|January 1, 1993
Role of late complement components in experimental autoimmune thyroiditisK Inoue, N Niesen, G Biesecker, et al.
Journal of Medical Genetics|July 1, 1993
Mild phenotypic manifestation of a 7p15.3p21.2 deletionC Wang, S Maynard, T W Glover, et al.
Human Genetics|December 24, 1997
Gene structure and allelic expression assay of the human GLI3 geneS Kang, M Rosenberg, V D Ko, et al.
Atherosclerosis|May 11, 2010
Identification of a novel LDLR mutation (c.261_262invGA, p.Trp87X): Importance of specifying DNA and protein mutationsDavid Ng, Emma Spaulding, , et al.
Pageof 48

Showing results (121-130 of 475) with videos related to

Sort By:
Pageof 48
Clinical Chemistry|February 6, 2016
Systematic Evaluation of Sanger Validation of Next-Generation Sequencing VariantsTyler F Beck, James C Mullikin, , et al.
Current Protocols in Human Genetics|September 4, 2019
Overview of Specifications to the ACMG/AMP Variant Interpretation GuidelinesSteven M Harrison, Leslie G Biesecker, Heidi L Rehm
American Journal of Medical Genetics. Part A|October 1, 2003
Proteus syndrome: misdiagnosis with PTEN mutationsM Michael Cohen, Joyce T Turner, Leslie G Biesecker
JAMA|October 17, 2018
Distinguishing Variant Pathogenicity From Genetic Diagnosis: How to Know Whether a Variant Causes a ConditionLeslie G Biesecker, Robert L Nussbaum, Heidi L Rehm
Proceedings of the National Academy of Sciences of the United States of America|February 1, 1979
Membrane attack complex of complement: generation of high-affinity phospholipid binding sites by fusion of five hydrophilic plasma proteinsE R Podack, G Biesecker, H J Müller-Eberhard
JAMA|August 7, 2013
Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptionalRobert C Green, James R Lupski, Leslie G Biesecker
Clinical Immunology and Immunopathology|January 1, 1993
Role of late complement components in experimental autoimmune thyroiditisK Inoue, N Niesen, G Biesecker, et al.
Journal of Medical Genetics|July 1, 1993
Mild phenotypic manifestation of a 7p15.3p21.2 deletionC Wang, S Maynard, T W Glover, et al.
Human Genetics|December 24, 1997
Gene structure and allelic expression assay of the human GLI3 geneS Kang, M Rosenberg, V D Ko, et al.
Atherosclerosis|May 11, 2010
Identification of a novel LDLR mutation (c.261_262invGA, p.Trp87X): Importance of specifying DNA and protein mutationsDavid Ng, Emma Spaulding, , et al.
Pageof 48