المؤلفون: Sojung Lim, Jiwon Koh, Jeong Mo Bae, Hongseok Yun, Cheol Lee, Jin Ho Paik, Tae Min Kim, Yoon Kyung Jeon

المصدر: Diagnostic Pathology, Vol 19, Iss 1, Pp 1-7 (2024)

مصطلحات موضوعية: BCL2-rearrangement−negative follicular lymphoma, Plasmablastic lymphoma, Histological transformation, Clonal evolution, Targeted gene sequencing, Pathology, RB1-214

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1746-1596Test

الوصول الحر: https://doaj.org/article/b60e1f461b004243a843a1fa1ec3498dTest

المؤلفون: Fatima M. Bostanova, Polina G. Tsygankova, Elena A. Larshina, Ilya O. Nagornov, Yulia V. Evseeva, Irina L. Krutikhina, Marina E. Dzhentemirova, Marina N. Kashlakova, Marina S. Petukhova, Inna V. Sharkova, Ekaterina Y. Zakharova

المصدر: Genes, Vol 15, Iss 5, p 615 (2024)

مصطلحات موضوعية: leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL), the DARS2 gene, white matter disorder, targeted gene sequencing, next-generation sequencing (NGS), Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/15/5/615Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/791ab53ca76942cca28e2e429ec99479Test

المؤلفون: 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, Thomas, Inglehearn, Chris F., Karali, Marianthi, Kjellström, Ulrika, Koenekoop, Robert, de Koning, Bart, Leroy, Bart P., McKibbin, Martin, Meunier, Isabelle, Nikopoulos, Konstantinos, 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. 11

مصطلحات موضوعية: cost-effective, high-throughput, inherited retinal diseases, smMIPs, targeted gene sequencing, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Medical and Health Sciences, Basic Medicine, Medical Genetics

الوصول الحر: https://lup.lub.lu.se/record/1e2c7301-6eec-43e1-8240-1d6d7c81d55cTest
http://dx.doi.org/10.3389/fcell.2023.1112270Test

المؤلفون: Sung Han Kim, Jongkeun Park, Weon Seo Park, Dongwan Hong, Jinsoo Chung

المصدر: Investigative and Clinical Urology, Vol 63, Iss 6, Pp 602-611 (2022)

مصطلحات موضوعية: cancer mutated gene, clear-cell metastatic renal cell carcinoma, overall survivals, targeted gene sequencing, targeted therapy, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

العلاقة: https://www.icurology.org/pdf/10.4111/icu.20210341Test; https://doaj.org/toc/2466-0493Test; https://doaj.org/toc/2466-054XTest

الوصول الحر: https://doaj.org/article/35975fe258ff4e9eb732313c5e6b181bTest

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

المصدر: Frontiers in Cell and Developmental Biology, Vol 11 (2023)

مصطلحات موضوعية: inherited retinal diseases, targeted gene sequencing, cost-effective, high-throughput, smMIPs, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fcell.2023.1112270/fullTest; https://doaj.org/toc/2296-634XTest

الوصول الحر: https://doaj.org/article/70773f087bee4d9ea754539e4fee1ac1Test

المؤلفون: Fatima Bostanova, Polina Tsygankova, Ilya Nagornov, Elena Dadali, Lyudmila Bessonova, Aleksey Kulesh, Viktor Drobakha, Irina Danchenko, Ilya Kanivets, Ekaterina Zakharova

المصدر: Genes, Vol 14, Iss 9, p 1715 (2023)

مصطلحات موضوعية: CADASIL, the NOTCH3 gene, targeted gene sequencing, next-generation sequencing (NGS), Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/14/9/1715Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/cf96c5ed13fa45ba8ae40f8a9689b3a1Test

المؤلفون: Rabia Basharat, Kim Rodenburg, María Rodríguez-Hidalgo, Afeefa Jarral, Ehsan Ullah, Jordi Corominas, Christian Gilissen, Syeda Tatheer Zehra, Usman Hameed, Muhammad Ansar, Suzanne E. de Bruijn

المصدر: Genes, Vol 14, Iss 8, p 1573 (2023)

مصطلحات موضوعية: anophthalmia, microphthalmia, deep intronic variant, genome sequencing, targeted gene sequencing, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/14/8/1573Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/2bc7edaa6cc140fb968555d963fe02bcTest

المؤلفون: Asma Chikhaoui, Ichraf Kraoua, Nadège Calmels, Sami Bouchoucha, Cathy Obringer, Khouloud Zayoud, Benjamin Montagne, Ridha M’rad, Sonia Abdelhak, Vincent Laugel, Miria Ricchetti, Ilhem Turki, Houda Yacoub-Youssef

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-14 (2022)

مصطلحات موضوعية: Cockayne syndrome, Targeted gene sequencing, ERCC8, CSA, Clinical heterogeneity, Siblings, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/06396b4c7f4e41928d8dba776a10851fTest

المؤلفون: Bogyeong Han, Sehui Kim, Jiwon Koh, Jeong Mo Bae, Hongseok Yun, Yoon Kyung Jeon

المصدر: Journal of Pathology and Translational Medicine, Vol 56, Iss 2, Pp 92-96 (2022)

مصطلحات موضوعية: diffuse large b-cell lymphoma, microsatellite instability, deficient mismatch repair, targeted gene sequencing, Pathology, RB1-214

وصف الملف: electronic resource

العلاقة: http://www.jpatholtm.org/upload/pdf/jptm-2021-10-15.pdfTest; https://doaj.org/toc/2383-7837Test; https://doaj.org/toc/2383-7845Test

الوصول الحر: https://doaj.org/article/2e442318f7c84053866b4455ec1175e6Test

المؤلفون: DM Panneman, RJ Hitti-Malin, LK Holtes, SE de Bruijn, J Reurink, EGM Boonen, MI Khan, M Ali, S Andréasson, E De Baere, S Banfi, M Bauwens, T Ben-Yosef, B Bocquet, M De Bruyne, BDL Cerda, F Coppieters, P Farinelli, T Guignard, CF Inglehearn, M Karali, U Kjellström, R Koenekoop, B de Koning, BP Leroy, M McKibbin, I Meunier, K Nikopoulos, KM Nishiguchi, JA Poulter, C Rivolta, E Rodríguez de la Rúa, P Saunders, F Simonelli, Y Tatour, F Testa, AAHJ Thiadens, C Toomes, AM Tracewska, HV Tran, H Ushida, V Vaclavik, VJM Verhoeven, M van de Vorst, C Gilissen, A Hoischen, FPM Cremers, S Roosing

مصطلحات موضوعية: Uncategorized, cost-effective, high-throughput, inherited retinal diseases, smMIPs, targeted gene sequencing

العلاقة: 2381/22304056.v1; https://figshare.com/articles/journal_contribution/Cost-effective_sequence_analysis_of_113_genes_in_1_192_probands_with_retinitis_pigmentosa_and_Leber_congenital_amaurosis/22304056Test

الإتاحة: https://figshare.com/articles/journal_contribution/Cost-effective_sequence_analysis_of_113_genes_in_1_192_probands_with_retinitis_pigmentosa_and_Leber_congenital_amaurosis/22304056Test