نتائج البحث - "Boonen, Erica"

المساهمون: Hitti-Malin, Rebekkah J., Panneman, Daan M., Corradi, Zelia, Boonen, Erica G. M., Astuti, Galuh, Dhaenens, Claire-Marie, Stöhr, Heidi, Weber, Bernhard H. F., Sharon, Dror, Banin, Eyal, Karali, Marianthi, Banfi, Sandro, Ben-Yosef, Tamar, Glavač, Damjan, Farrar, G. Jane, Ayuso, Carmen, Liskova, Petra, Dudakova, Lubica, Vajter, Marie, Ołdak, Monika, Szaflik, Jacek P., Matynia, Anna, Gorin, Michael B., Kämpjärvi, Kati, Bauwens, Miriam, De Baere, Elfride, Hoyng, Carel B., Li, Catherina H. Z., Klaver, Caroline C. W., Inglehearn, Chris F., Fujinami, Kaoru, Rivolta, Carlo, Allikmets, Rando, Zernant, Jana, Lee, Winston, Podhajcer, Osvaldo L., Fakin, Ana, Sajovic, Jana, Altalbishi, Alaa, Valeina, Sandra, Taurina, Gita, Vincent, Andrea L., Roberts, Lisa, Ramesar, Raj, Sartor, Giovanna, Luppi, Elena, Downes, Susan M., van den Born, L. Ingeborgh, Mclaren, Terri L., De Roach, John N., Lamey, Tina M., Thompson, Jennifer A., Chen, Fred K., Tracewska, Anna M., Kamakari, Smaragda, Sallum, Juliana Maria Ferraz, Bolz, Hanno J., Kayserili, Hülya, Roosing, Susanne, Cremers, Frans P. M.

مصطلحات موضوعية: maculopathies, macula, retinal, inherited, sequencing, penetrance

العلاقة: volume:14; issue:3; journal:BIOMOLECULES; https://hdl.handle.net/11591/522988Test

الإتاحة: https://doi.org/10.3390/biom14030367Test
https://hdl.handle.net/11591/522988Test

View record in BASE

5

دورية أكاديمية

Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan.

المؤلفون: Basharat, Rabia, de Bruijn, Suzanne E, Zahid, Muhammad, Rodenburg, Kim, Hitti-Malin, Rebekkah J, Rodríguez-Hidalgo, María, Boonen, Erica G M, Jarral, Afeefa, Mahmood, Arif, Corominas, Jordi, Khalil, Sharqa, Zai, Jawaid Ahmed, Ali, Ghazanfar, Ruiz-Ederra, Javier, Gilissen, Christian, Cremers, Frans P M, Ansar, Muhammad, Panneman, Daan M, Roosing, Susanne

المصدر: Exp Eye Res ; ISSN:1096-0007 ; Volume:244

مصطلحات موضوعية: Inherited retinal dystrophies, Intra-familial locus heterogeneity, Phenotype correction, Whole genome sequencing, smMIPs

العلاقة: https://doi.org/10.1016/j.exer.2024.109945Test; https://pubmed.ncbi.nlm.nih.gov/38815792Test

الإتاحة: https://doi.org/10.1016/j.exer.2024.109945Test
https://pubmed.ncbi.nlm.nih.gov/38815792Test

View record in BASE

6

دورية أكاديمية

Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases

المؤلفون: Hitti-Malin, Rebekkah J, Dhaenens, Claire-Marie, Panneman, Daan M, Corradi, Zelia, Khan, Mubeen, den Hollander, Anneke I, Farrar, G Jane, Gilissen, Christian, Hoischen, Alexander, van de Vorst, Maartje, Bults, Femke, Boonen, Erica G M, Saunders, Patrick, Roosing, Susanne, Cremers, Frans P M

المصدر: Journal Articles

مصطلحات موضوعية: costâ€effective, highâ€throughput, macular diseases, smMIPs, targeted gene sequencing, Humans, Medication Reconciliation, Patient Discharge, Aftercare, Hospitalization, Vocabulary, Controlled, Diseases, Internal Medicine, Medical Specialties, Medicine and Health Sciences, Pathological Conditions, Signs and Symptoms

وصف الملف: application/pdf

العلاقة: https://digitalcommons.library.tmc.edu/uthmed_docs/421Test; https://digitalcommons.library.tmc.edu/context/uthmed_docs/article/1420/viewcontent/HUMU_43_2234.pdfTest

الإتاحة: https://digitalcommons.library.tmc.edu/uthmed_docs/421Test
https://digitalcommons.library.tmc.edu/context/uthmed_docs/article/1420/viewcontent/HUMU_43_2234.pdfTest

View record in BASE

7

دورية أكاديمية

Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK.

المؤلفون: Mc Clinton, Benjamin, Corradi, Zelia, McKibbin, Martin, Panneman, Daan M., Roosing, Susanne, Boonen, Erica G. M., Ali, Manir, Watson, Christopher M., Steel, David H., Cremers, Frans P. M., Inglehearn, Chris F., Hitti-Malin, Rebekkah J., Toomes, Carmel

المصدر: Genes; Jan2023, Vol. 14 Issue 1, p191, 14p

مصطلحات موضوعية: STARGARDT disease, MACULAR degeneration, RETINAL degeneration, VISION disorders, MOLECULAR probes

مصطلحات جغرافية: UNITED Kingdom

النص الكامل

8

دورية أكاديمية

Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases.

المؤلفون: Hitti‐Malin, Rebekkah J., Dhaenens, Claire‐Marie, Panneman, Daan M., Corradi, Zelia, Khan, Mubeen, den Hollander, Anneke I., Farrar, G. Jane, Gilissen, Christian, Hoischen, Alexander, van de Vorst, Maartje, Bults, Femke, Boonen, Erica G. M., Saunders, Patrick, Roosing, Susanne, Cremers, Frans P. M.

المصدر: Human Mutation; Dec2022, Vol. 43 Issue 12, p2234-2250, 17p

9

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

المؤلفون: Daan M. Panneman, Rebekkah J. Hitti-Malin, Lara K. Holtes, Suzanne E. de Bruijn, Janine Reurink, Erica G.M. Boonen, Muhammad Imran Khan, Manir Ali, Sten Andréasson, Elfride De Baere, Sandro Banfi, Miriam Bauwens, Tamar Ben-Yosef, Béatrice Bocquet, Marieke De Bruyne, Berta de la Cerda, Frauke Coppieters, Pietro Farinelli, Thomas Guignard, Chris F. Inglehearn, Marianthi Karali, Ulrika Kjellström, Robert Koenekoop, Bart de Koning, Bart P. Leroy, Martin McKibbin, Isabelle Meunier, Konstantinos Nikopoulos, Koji M. Nishiguchi, James A. Poulter, Carlo Rivolta, Enrique Rodríguez de la Rúa, Patrick Saunders, Francesca Simonelli, Yasmin Tatour, Francesco Testa, Alberta A.H.J. Thiadens, Carmel Toomes, Anna M. Tracewska, Hoai Viet Tran, Hiroaki Ushida, Veronika Vaclavik, Virginie J.M. Verhoeven, Maartje van de Vorst, Christian Gilissen, Alexander Hoischen, Frans P.M. Cremers, Susanne Roosing

المساهمون: MUMC+: DA KG Lab Informatica en BIO (9), RS: FHML non-thematic output, Panneman, Daan M., Hitti-Malin, Rebekkah J., Holtes, Lara K., de Bruijn, Suzanne E., Reurink, Janine, Boonen, Erica G. M., Khan, Muhammad Imran, Ali, Manir, Andréasson, Sten, De Baere, Elfride, Banfi, Sandro, Bauwens, Miriam, Ben-Yosef, Tamar, Bocquet, Béatrice, De Bruyne, Marieke, Cerda, Berta de la, Coppieters, Frauke, Farinelli, Pietro, Guignard, Thoma, Inglehearn, Chris F., Karali, Marianthi, Kjellström, Ulrika, Koenekoop, Robert, de Koning, Bart, Leroy, Bart P., Mckibbin, Martin, Meunier, Isabelle, Nikopoulos, Konstantino, Nishiguchi, Koji M., Poulter, James A., Rivolta, Carlo, Rodríguez de la Rúa, Enrique, Saunders, Patrick, Simonelli, Francesca, Tatour, Yasmin, Testa, Francesco, Thiadens, Alberta A. H. J., Toomes, Carmel, Tracewska, Anna M., Tran, Hoai Viet, Ushida, Hiroaki, Vaclavik, Veronika, Verhoeven, Virginie J. M., van de Vorst, Maartje, Gilissen, Christian, Hoischen, Alexander, Cremers, Frans P. M., Roosing, Susanne

المصدر: FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
Frontiers in Cell and Developmental Biology, 11
Frontiers in Cell and Developmental Biology, 11:1112270. Frontiers Media SA

مصطلحات موضوعية: Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], targeted gene sequencing, MUTATIONS, cost-effective, inherited retinal diseases, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Biology and Life Sciences, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Cell Biology, VARIANTS, RETINAL DYSTROPHY, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], All institutes and research themes of the Radboud University Medical Center, smMIPs, high-throughput, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8aec627be4588a73a848b3a7c8c360fbTest
https://biblio.ugent.be/publication/01GVJA0VVJHFHX3RE1AKYTKF7D/file/01GYYXP39JV4X77Y2TBM77VTMWTest

تنقيح النتائج