13 results on '"Joosten, Marieke"'
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2. Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders
3. Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
4. Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
5. Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study
6. Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study
7. Effect of Video Discharge Instructions for Patients With Mild Traumatic Brain Injury in the Emergency Department: A Randomized Controlled Trial
8. Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases
9. Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin
10. Is prenatal cytogenetic diagnosis with genomic array indicated in pregnancies at risk for a molecular or metabolic disorder?
11. Translational Control of Putative Protooncogene Nm23-M2 by Cytokines via Phosphoinositide 3-Kinase Signaling
12. Leukemic predisposition of pSca-1/Cb2 transgenic mice
13. Phenotyping of Evi1, Evi11/Cb2, and Evi12 Transformed Leukemias Isolated from a Novel Panel of Cas-Br-M Murine Leukemia Virus-Infected Mice
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