Ebony Richardson

SECISBP2 Deficiency Causes a Lethal Perinatal Cardiomyopathy

Carlos C. Smith-Díaz, Natasha Henden, Natalie P. Stewart, Samantha J. Bryen et autres

au, de (code pays fourni par la source)

Proteomics Uncovers Cryptic JPH2 Loss in Paediatric Dilated Cardiomyopathy

Carlos C. Smith-Díaz, Valerii Iaprintsev, Hannah Huckstep, Ivan Macciocca et autres

au, us, pl (code pays fourni par la source)

Cardiomyopathy and sudden cardiac death as a rare presentation of mucolipidosis type III in a family with compound heterozygous variants in GNPTAB

Natalie Stewart, Natasha Henden, Carlos C. Smith-Díaz, Jennifer Rigby et autres

au, us (code pays fourni par la source)

EARLY RESOLUTION OF FOOD PROTEIN-INDUCED ENTEROCOLITIS SYNDROME TO HEN’S EGG

Jack Palmieri, Sai Nimmagadda, Angela Oest, Ebony Richardson et autres

Tissue-Based Gene Expression Resolves Ambiguity When Histology is Indeterminant in Pediatric Kidney Transplant Recipients

Clarkson Crane, E. Zeiler, Ebony Richardson, Elizabeth Ingulli

us (code pays fourni par la source)

Improving the quality of pathology reports

Mia J Gruzin, Habib Taouk, Erosh Gunasekera, Fabrice De Bond et autres

au, gb (code pays fourni par la source)

AGE OF INTRODUCTION OF SOLID FOODS MILK, EGG, AND PEANUT IN AN INFANT COHORT

Angela Oest, Ruchi S. Gupta, Sai Nimmagadda, Ebony Richardson et autres

Multisite Validation of a Functional Assay to Adjudicate SCN5A Brugada Syndrome–Associated Variants

G. Joanne, Matthew J. O’Neill, Ebony Richardson, Kate Thomson et autres

au, us, gb, br (code pays fourni par la source)

A Validated SCN5A Functional Assay to Adjudicate Variants of Uncertain Significance from the International Brugada Syndrome Genetics Consortia

Jianchao Ma, Matthew J. O’Neill, Ebony Richardson, Jodie Ingles et autres

au, us, gb (code pays fourni par la source)

Novel tool for improving the quality of genetic pathology post-analytical reports

Mia J. Gruzin, Habib Taouk, Juan León, Ebony Richardson et autres

au (code pays fourni par la source)

Novel tool for improving the quality of genetic pathology post-analytical reports

Mia J. Gruzin, Habib Taouk, Ma. Juliana Leon R., Ebony Richardson et autres

au (code pays fourni par la source)

Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay

Kate Thomson, Connie Jiang, Ebony Richardson, Dominik S. Westphal et autres

gb, au, de, nl, us (code pays fourni par la source)