نتائج البحث - "Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience"

1

The FGF14 gene is a milestone in ataxia genetics.

الموضوعات: Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience., Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience.

مصطلحات الفهرس: Article / Letter to editor.

URL: https://doi.org/10.1016/j.ebiom.2024.104994
https://repository.ubn.ru.nl//bitstream/handle/2066/304795/304795.pdf
https://repository.ubn.ru.nl/handle/2066/304795

View record in OAIster

2

Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease.

المؤلفون: Marouane, A.

الموضوعات: All institutes and research themes of the Radboud University Medical Center., Radboudumc 0: Other Research Paediatrics., Radboudumc 11: Renal disorders Human Genetics., Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience., Radboudumc 14: Tumours of the digestive tract Human Genetics., Radboudumc 14: Tumours of the digestive tract Pathology., Radboudumc 16: Vascular damage Paediatrics., Radboudumc 17: Women's cancers Human Genetics., Radboudumc 2: Cancer development and immune defence Human Genetics., Radboudumc 4: lnfectious Diseases and Global Health Internal Medicine., Radboudumc 6: Metabolic Disorders Human Genetics., Radboudumc 6: Metabolic Disorders Paediatrics., Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience., Radboudumc 7: Neurodevelopmental disorders Human Genetics.

مصطلحات الفهرس: Article / Letter to editor.

URL: https://doi.org/10.3389/fgene.2023.1304520
https://repository.ubn.ru.nl//bitstream/handle/2066/302678/302678.pdf
https://repository.ubn.ru.nl/handle/2066/302678

View record in OAIster

3

Human Histology after Structure Preservation Cochlear Implantation via Round Window Insertion.

المؤلفون: Geerardyn, A.

الموضوعات: All institutes and research themes of the Radboud University Medical Center., Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience.

مصطلحات الفهرس: Article / Letter to editor.

URL: https://doi.org/10.1002/lary.30900
https://repository.ubn.ru.nl/handle/2066/302632

View record in OAIster

4

Exploring uncertainties regarding unsolicited findings in genetic testing.

المؤلفون: Schoot, V. van der

الموضوعات: All institutes and research themes of the Radboud University Medical Center., Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience., Radboudumc 18: Healthcare improvement science IQ Healthcare.

مصطلحات الفهرس: Article / Letter to editor.

URL: https://doi.org/10.1016/j.pec.2023.108064
https://repository.ubn.ru.nl//bitstream/handle/2066/301225/301225.pdf
https://repository.ubn.ru.nl/handle/2066/301225

View record in OAIster

5

Brody Disease, an Early-Onset Myopathy With Delayed Relaxation and Abnormal Gait: A Case Series of 9 Children.

المؤلفون: Verhoeven, J.I.

الموضوعات: Radboudumc 0: Other Research DCMN: Donders Center for Medical Neuroscience., Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience., Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience., Radboudumc 6: Metabolic Disorders Human Genetics., Radboudumc 6: Metabolic Disorders Paediatrics.

مصطلحات الفهرس: Article / Letter to editor.

URL: https://repository.ubn.ru.nl/handle/2066/304798
https://doi.org/10.1212/WNL.0000000000209164

View record in OAIster

6

Interaural and sex differences in the natural evolution of hearing levels in pre-symptomatic and symptomatic carriers of the p.Pro51Ser variant in the COCH gene.

المؤلفون: Moyaert, Julie

الموضوعات: All institutes and research themes of the Radboud University Medical Center., Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience.

مصطلحات الفهرس: Article / Letter to editor.

URL: https://repository.ubn.ru.nl//bitstream/handle/2066/304637/304637.pdf
https://repository.ubn.ru.nl/handle/2066/304637
https://doi.org/10.1038/s41598-023-50583-6

View record in OAIster

7

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

المؤلفون: Hitti-Malin, R.J.

الموضوعات: All institutes and research themes of the Radboud University Medical Center., Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience., Radboudumc 12: Sensory disorders Human Genetics., Radboudumc 6: Metabolic Disorders Human Genetics., Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience.

مصطلحات الفهرس: Article / Letter to editor.

URL: https://repository.ubn.ru.nl//bitstream/handle/2066/304614/304614.pdf
https://repository.ubn.ru.nl/handle/2066/304614
https://doi.org/10.3390/biom14030367

View record in OAIster

8

Post-implantation clinical cost analysis between transcutaneous and percutaneous bone conduction devices.

المؤلفون: Aukema, T.W.

الموضوعات: All institutes and research themes of the Radboud University Medical Center., Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience.

مصطلحات الفهرس: Article / Letter to editor.

URL: https://repository.ubn.ru.nl//bitstream/handle/2066/301233/301233.pdf
https://repository.ubn.ru.nl/handle/2066/301233
https://doi.org/10.1007/s00405-023-08099-2

View record in OAIster

9

Long-Term Results of the Linear Incision Technique With Tissue Reduction Versus Tissue Preservation for Inserting Bone-Anchored Hearing Implants: The Ongoing Optimization in Bone Implant Surgery.

المؤلفون: Lindeboom, Jantine J.

الموضوعات: All institutes and research themes of the Radboud University Medical Center., Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience.

مصطلحات الفهرس: Article / Letter to editor.

URL: https://repository.ubn.ru.nl/handle/2066/304694
https://doi.org/10.1097/MAO.0000000000004101

View record in OAIster

10

QR-1011 restores defective ABCA4 splicing caused by multiple severe ABCA4 variants underlying Stargardt disease.

المؤلفون: Kaltak, M.

الموضوعات: All institutes and research themes of the Radboud University Medical Center., Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience., Radboudumc 12: Sensory disorders Human Genetics., Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience.

مصطلحات الفهرس: Article / Letter to editor.

URL: https://doi.org/10.1038/s41598-024-51203-7
https://repository.ubn.ru.nl//bitstream/handle/2066/302637/302637.pdf
https://repository.ubn.ru.nl/handle/2066/302637

View record in OAIster

11

Early detection of active Human CytomegaloVirus (hCMV) infection in pregnant women using data generated for noninvasive fetal aneuploidy testing.

المؤلفون: Faas, B.H.W.

الموضوعات: All institutes and research themes of the Radboud University Medical Center., Radboudumc 0: Other Research Human Genetics., Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience., Radboudumc 17: Women's cancers Medical Microbiology., Radboudumc 6: Metabolic Disorders Human Genetics.

مصطلحات الفهرس: Article / Letter to editor.

URL: https://doi.org/10.1016/j.ebiom.2024.104983
https://repository.ubn.ru.nl//bitstream/handle/2066/304203/304203.pdf
https://repository.ubn.ru.nl/handle/2066/304203

View record in OAIster

12

Remote Cochlear Implant Assessments: Validity and Stability in Self-Administered Smartphone-Based Testing.

المؤلفون: Wasmann, J.W.A.

الموضوعات: All institutes and research themes of the Radboud University Medical Center., Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience.

مصطلحات الفهرس: Article / Letter to editor.

URL: https://doi.org/10.1097/AUD.0000000000001422
https://repository.ubn.ru.nl/handle/2066/301032

View record in OAIster

13

Editorial: Expanded insights into diabetic neovascular glaucoma by widefield swept-source optical coherence tomography angiography.

المؤلفون: Theelen, T.

الموضوعات: All institutes and research themes of the Radboud University Medical Center., Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience.

مصطلحات الفهرس: Article / Letter to editor.

URL: https://doi.org/10.1007/s00417-023-06293-w
https://repository.ubn.ru.nl/handle/2066/304755

View record in OAIster

14

Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.

المؤلفون: Wijngaard, R.

الموضوعات: All institutes and research themes of the Radboud University Medical Center., Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience., Radboudumc 14: Tumours of the digestive tract Human Genetics., Radboudumc 15: Urological cancers Medical Oncology., Radboudumc 6: Metabolic Disorders Human Genetics., Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience., Radboudumc 7: Neurodevelopmental disorders Human Genetics.

مصطلحات الفهرس: Article / Letter to editor.

URL: https://doi.org/10.1038/s41431-023-01478-7
https://repository.ubn.ru.nl//bitstream/handle/2066/303487/303487.pdf
https://repository.ubn.ru.nl/handle/2066/303487

View record in OAIster

15

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.

المؤلفون: Töpf, A.

الموضوعات: Radboudumc 0: Other Research DCMN: Donders Center for Medical Neuroscience., Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience., Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience.

مصطلحات الفهرس: Article / Letter to editor.

URL: https://doi.org/10.1038/s41588-023-01651-0
https://repository.ubn.ru.nl/handle/2066/304793

View record in OAIster

16

The relation between cochlear implant programming levels and speech perception performance in post-lingually deafened adults: a data-driven approach.

المؤلفون: Migliorini, E.

الموضوعات: All institutes and research themes of the Radboud University Medical Center., Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience.

مصطلحات الفهرس: Article / Letter to editor.

URL: https://doi.org/10.1007/s00405-023-08195-3
https://repository.ubn.ru.nl//bitstream/handle/2066/303495/303495.pdf
https://repository.ubn.ru.nl/handle/2066/303495

View record in OAIster

17

Wait-and-scan management in sporadic Koos grade 4 vestibular schwannomas: A longitudinal volumetric study.

المؤلفون: Schouten, S.M.

الموضوعات: All institutes and research themes of the Radboud University Medical Center., Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience., Radboudumc 9: Rare cancers Otorhinolaryngology.

مصطلحات الفهرس: Article / Letter to editor.

URL: https://doi.org/10.1093/noajnl/vdad144
https://repository.ubn.ru.nl//bitstream/handle/2066/302032/302032.pdf
https://repository.ubn.ru.nl/handle/2066/302032

View record in OAIster

18

Skipping, elongation, and restoration: A tale of ABCA4 splicing to pave the road towards therapeutic applications.

المؤلفون: Tomkiewicz, T.

الموضوعات: Donders Series., Donders Center for Medical Neuroscience., Radboudumc 12: Sensory disorders., Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience.

مصطلحات الفهرس: Doctoral thesis.

URL: https://repository.ubn.ru.nl//bitstream/handle/2066/302595/302595.pdf
https://repository.ubn.ru.nl/handle/2066/302595

View record in OAIster

19

Study of Late-Onset Stargardt Type 1 Disease: Characteristics, Genetics, and Progression.

المؤلفون: Li, C.H.Z.

الموضوعات: All institutes and research themes of the Radboud University Medical Center., Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience., Radboudumc 12: Sensory disorders Human Genetics., Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience.

مصطلحات الفهرس: Article / Letter to editor.

URL: https://doi.org/10.1016/j.ophtha.2023.08.011
https://repository.ubn.ru.nl//bitstream/handle/2066/301033/301033.pdf
https://repository.ubn.ru.nl/handle/2066/301033

View record in OAIster

20

Surgical Treatment for Troublesome Mastoid Cavities: Canal Wall Reconstruction With Bony Obliteration Versus Subtotal Petrosectomy.

المؤلفون: Kemps, Glen

الموضوعات: All institutes and research themes of the Radboud University Medical Center., Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience., Radboudumc 9: Rare cancers Otorhinolaryngology.

مصطلحات الفهرس: Article / Letter to editor.

URL: https://doi.org/10.1097/MAO.0000000000004109
https://repository.ubn.ru.nl/handle/2066/304617

View record in OAIster

تنقيح النتائج