Mark Hajjar
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View article: Evaluating reproductive carrier screening using biotinidase deficiency as a model: Variants identified, variant rates, and management
Evaluating reproductive carrier screening using biotinidase deficiency as a model: Variants identified, variant rates, and management Open
The BTD P/LP variants identified through RCS were substantially compatible with those found through positive newborn screening. Therefore, RCS provides a potential for earlier diagnosis. We observed significant differences in P/LP heterozy…
View article: eP303: A tale of two tests: A PGT-M and expanded carrier screening clinical experience study
eP303: A tale of two tests: A PGT-M and expanded carrier screening clinical experience study Open