Sofie Ivarsson
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- 2023
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Mark
Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer
(
- Contribution to journal › Article
- 2022
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Mark
Extended genetic diagnostics for children with profound sensorineural hearing loss by implementing massive parallel sequencing. Diagnostic outcome, family experience and clinical implementation
(
- Contribution to journal › Article
- 2021
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Mark
MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor
(
- Contribution to journal › Article
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Mark
ZMIZ1-associated neurodevelopmental disorder and Hirschsprung disease
(
- Contribution to journal › Article
- 2020
-
Mark
Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism
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- Contribution to journal › Article
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Mark
Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke
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- Contribution to journal › Article
- 2019
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Mark
A stroke gene panel for whole-exome sequencing
(
- Contribution to journal › Article