Isabelle Schrauwen
@NeuroRare
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Genes, variants, chromosomes and scuba diving
Joined February 2022
RT @GeneticsSociety: #ASHG24 is a wrap! ✔️ Thank you for making this a fantastic week. We ended strong with🔥2 platform sessions & insights….
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RT @elfridedebaere: Lovely picture of awesome (ex-)Belgian geneticists at ASHG in Denver! 🇷🇴.@SVergult @NeuroRare Isabelle Schrauwen @Frank….
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RT @Genes_MDPI: Our #MostViewed paper in February is the review by @Madziczyzna and @NeuroRare: "Methods to Improve Molecular Diagnosis in….
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Families affected with #HECW2 mutations can now sign up to the Simons Searchlight initiative, a big leap forward to the HECW2 community: #HECW2 #RareDiseaseDay2022 #RareDiseaseDay.
simonssearchlight.org
HECW2-related syndrome happens when someone has a change in the HECW2 gene.
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Parents of children with rare neurological disorders often endure years-long diagnostic odysseys. How do we improve molecular diagnosis in these cases? #RareDiseaseDay #RareDiseaseDay2022 #RareDisease #Genes.
mdpi.com
During the last decade, genetic testing has emerged as an important etiological diagnostic tool for Mendelian diseases, including pediatric neurological conditions. A genetic diagnosis has a consid...
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Parents of children with rare neurological disorders often endure years-long diagnostic odysseys. It is important to improve molecular diagnosis in these cases with alternative analyses and methods: #RareDisease #RareDiseaseDay2022 #Neurology #genetalk.
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