Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

JL Casanova, ME Conley, SJ Seligman… - Journal of Experimental …, 2014 - rupress.org
Can genetic and clinical findings made in a single patient be considered sufficient to
establish a causal relationship between genotype and phenotype? We report that up to 49 of …

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

JL Casanova, ME Conley… - The Journal of …, 2014 - pubmed.ncbi.nlm.nih.gov
Can genetic and clinical findings made in a single patient be considered sufficient to
establish a causal relationship between genotype and phenotype? We report that up to 49 of …

[PDF][PDF] Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

JL Casanova, ME Conley… - The Journal of …, 2014 - pdfs.semanticscholar.org
In the history of clinical genetics, the delineation of novel Mendelian phenotypes often
started with the description of single cases, which prompted recognition of additional …

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

JL Casanova, ME Conley, SJ Seligman… - The Journal of …, 2014 - dash.harvard.edu
Can genetic and clinical findings made in a single patient be considered sufficient to
establish a causal relationship between genotype and phenotype? We report that up to 49 of …

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

JL Casanova, ME Conley, SJ Seligman, L Abel… - Journal of Experimental …, 2014 - cir.nii.ac.jp
抄録< jats: p> Can genetic and clinical findings made in a single patient be considered
sufficient to establish a causal relationship between genotype and phenotype? We report …

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies.

JL Casanova, ME Conley, SJ Seligman… - The Journal of …, 2014 - europepmc.org
Can genetic and clinical findings made in a single patient be considered sufficient to
establish a causal relationship between genotype and phenotype? We report that up to 49 of …

[PDF][PDF] Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

JL Casanova, ME Conley, SJ Seligman, L Abel… - J. Exp. Med, 2014 - Citeseer
Can genetic and clinical findings made in a single patient be considered sufficient to
establish a causal relationship between genotype and phenotype? We report that up to 49 of …

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

JL Casanova, ME Conley, SJ Seligman… - The Journal of …, 2014 - dash.lib.harvard.edu
Can genetic and clinical findings made in a single patient be considered sufficient to
establish a causal relationship between genotype and phenotype? We report that up to 49 of …

[HTML][HTML] Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

JL Casanova, ME Conley, SJ Seligman… - The Journal of …, 2014 - ncbi.nlm.nih.gov
Can genetic and clinical findings made in a single patient be considered sufficient to
establish a causal relationship between genotype and phenotype? We report that up to 49 of …

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies.

JL Casanova, ME Conley, SJ Seligman… - The Journal of …, 2014 - europepmc.org
Can genetic and clinical findings made in a single patient be considered sufficient to
establish a causal relationship between genotype and phenotype? We report that up to 49 of …