Keith Wetherby
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View article: Identification of an elusive SERPING1 deletion in a family with hereditary angioedema type I utilizing soft clipping
Identification of an elusive SERPING1 deletion in a family with hereditary angioedema type I utilizing soft clipping Open
Background Hereditary angioedema (HAE) is an autosomal dominant genetic disorder caused by mutations in the C1 esterase inhibitor gene, SERPING1, leading to overproduction of bradykinin and debilitating swelling attacks. Variants in the SE…
View article: Differences In Viral Respiratory Tract Infections Among Immunodeficiency Patients And The General Population After The COVID-19 Pandemic
Differences In Viral Respiratory Tract Infections Among Immunodeficiency Patients And The General Population After The COVID-19 Pandemic Open
View article: Molecular diagnosis of hereditary angioedema patients using a 77 gene NGS panel
Molecular diagnosis of hereditary angioedema patients using a 77 gene NGS panel Open
View article: Beyond SNVs: comprehensive cohort-level analytics of 100 samples from the eyeGENE® program
Beyond SNVs: comprehensive cohort-level analytics of 100 samples from the eyeGENE® program Open
View article: Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies
Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies Open
View article: Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W
Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W Open