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Marieke F van Dooren

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HGG Advances|September 24, 2025

Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction toolsMark Drost, Jordy Dekker, Federico Ferraro, et al.

Cell Reports|March 16, 2022

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseasesPaul C Marcogliese, Samantha L Deal, Jonathan Andrews, et al.

American Journal of Human Genetics|June 5, 2018

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental DisorderMargot R F Reijnders, Kerry A Miller, Mohsan Alvi, et al.

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Search research articles

Showing results (31-40 of 33) with videos related to

Sort By:

Pageof 4

You have reached the last page of results.This site can display upto 33 results.

HGG Advances|September 24, 2025

Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction toolsMark Drost, Jordy Dekker, Federico Ferraro, et al.

Cell Reports|March 16, 2022

American Journal of Human Genetics|June 5, 2018

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental DisorderMargot R F Reijnders, Kerry A Miller, Mohsan Alvi, et al.

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