المؤلفون: Nirosha Kugalingam, Deepthi De Silva, Hiranya Abeysekera, Sriyani Nanayakkara, Shamala Tirimanne, Dinali Ranaweera, Prashanth Suravajhala, Vishvanath Chandrasekharan

المصدر: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-8 (2023)

مصطلحات موضوعية: Retinoblastoma, Targeted NGS, GRACE-PCR, RB1, Sri Lanka, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/2fdaaed7865345358101b488764b3238

المؤلفون: Catherine I. Dumur, Ramakrishnan Krishnan, Jorge A. Almenara, Kathleen E. Brown, Kailyn R. Dugan, Christiana Farni, Fatima Z. Ibrahim, Naomi A. Sanchez, Sumra Rathore, Dinesh Pradhan, Jonathan H. Hughes

المصدر: Journal of Molecular Pathology, Vol 4, Iss 2, Pp 109-127 (2023)

مصطلحات موضوعية: targeted NGS, Oncomine Comprehensive Assay Plus, comprehensive genomic profiling, microsatellite instability, tumor mutational burden, homologous recombination deficiency, Pathology, RB1-214

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2673-5261/4/2/12; https://doaj.org/toc/2673-5261

URL الوصول: https://doaj.org/article/8d8880e63def4712a1fac7c08739e665

المؤلفون: Porc Jakub Paweł, Reigl Tomáš, Navrkalová Veronika, Hynšt Jakub, Pál Karol, Stránská Kamila, Kotašková Jana, Pospíšilová Šárka

المصدر: EMBL Conference Cancer Genomics 2023, Heidelberg, Německo

مصطلحات موضوعية: Next-generation sequencing, targeted NGS panel LYNX, cancer genomics

Relation: https://is.muni.cz/publication/2355920

الاتاحة: https://is.muni.cz/publication/2355920

المؤلفون: Yuanyuan Xiao, Cong Zhou, Hanbing Xie, Shuang Huang, Jing Wang, Shanling Liu

المصدر: BMC Genomics, Vol 23, Iss 1, Pp 1-8 (2022)

مصطلحات موضوعية: Oculocutaneous albinism, TYR, OCA2, Targeted NGS, Medical genomics, Nucleotide variations, Biotechnology, TP248.13-248.65, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2164

URL الوصول: https://doaj.org/article/7c66af441edc4399b5431a089d995b0d

المؤلفون: Yoshinori Satomura, Kazuhiko Bessho, Nobutoshi Nawa, Hidehito Kondo, Shogo Ito, Takao Togawa, Masanao Yano, Yuki Yamano, Taisuke Inoue, Miho Fukui, Shinsuke Onuma, Tomoya Fukuoka, Kie Yasuda, Takeshi Kimura, Makiko Tachibana, Taichi Kitaoka, Shin Nabatame, Keiichi Ozono

المصدر: Journal of Medical Case Reports, Vol 16, Iss 1, Pp 1-6 (2022)

مصطلحات موضوعية: ARC syndrome, VPS33B, VIPAS39, Targeted NGS, Neonatal cholestasis, Mild phenotype, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1752-1947

URL الوصول: https://doaj.org/article/ac1143801be74e5f85e9d7f8ee61ab4c

المؤلفون: Yinan Wang, Hui Du, Wenkui Dai, Cuijun Bao, Xi Zhang, Yan Hu, Zhiyu Xie, Xin Zhao, Changzhong Li, Wenyong Zhang, Ruifang Wu

المصدر: Cancers; Volume 15; Issue 13; Pages: 3522

مصطلحات موضوعية: endometrial cancer, early diagnosis, endometrial specimens, minimally invasive methods, targeted NGS panel

وصف الملف: application/pdf

Relation: Cancer Causes, Screening and Diagnosis; https://dx.doi.org/10.3390/cancers15133522

الاتاحة: https://doi.org/10.3390/cancers15133522

المؤلفون: Anna Wawrocka, Magdalena Socha, Joanna Walczak-Sztulpa, Grzegorz Koczyk, Anna Skorczyk-Werner, Maciej R. Krawczyński

المصدر: Diagnostics; Volume 13; Issue 4; Pages: 730

مصطلحات موضوعية: retinitis pigmentosa (RP), targeted NGS, whole-exome sequencing, molecular re-diagnosis

وصف الملف: application/pdf

Relation: Pathology and Molecular Diagnostics; https://dx.doi.org/10.3390/diagnostics13040730

الاتاحة: https://doi.org/10.3390/diagnostics13040730

المؤلفون: Ulyana Boyarskikh, Andrey Kechin, Evgeniy Khrapov, Mikhail Fedyanin, Grigory Raskin, Marina Mukhina, Elena Kravtsova, Aleksey Tsukanov, Sergey Achkasov, Maksim Filipenko

المصدر: Cancers, Vol 15, Iss 5065, p 5065 (2023)

مصطلحات موضوعية: microsatellite instability, endometrial cancers, targeted NGS, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

Relation: https://www.mdpi.com/2072-6694/15/20/5065; https://doaj.org/toc/2072-6694; https://doaj.org/article/70caf7eb87aa4882ac028ea95b1fea5e

الاتاحة: https://doi.org/10.3390/cancers15205065
https://doaj.org/article/70caf7eb87aa4882ac028ea95b1fea5e

المؤلفون: Sheng-Han Wu, Yu-Xin Xiao, Hseuh-Chien Hsiao, Ruwen Jou

المصدر: Microbiology Spectrum, Vol 10, Iss 6 (2022)

مصطلحات موضوعية: Mycobacterium tuberculosis, whole-genome sequencing, targeted NGS, drug susceptibility, heteroresistance, tuberculosis, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2165-0497

URL الوصول: https://doaj.org/article/e2625683fc5443858b58c3f4fe0d2e5c

المؤلفون: Hediye Nese Cinar, Gopal Gopinath, Sonia Almería, Joyce M. Njoroge, Helen R. Murphy, Alexandre da Silva

المصدر: Heliyon, Vol 8, Iss 11, Pp e11575- (2022)

مصطلحات موضوعية: Cyclospora cayetanensis, Produce, AmpliSeq, Mitochondrial genome, Targeted NGS, Genotyping, Science (General), Q1-390, Social sciences (General), H1-99

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2405844022028638; https://doaj.org/toc/2405-8440

URL الوصول: https://doaj.org/article/967a12f269fe4ff48952f4504674f865

المؤلفون: Ana Domazetovska, Slade O. Jensen, Matthew Gray, Michael Radzieta, Michael Maley

المصدر: Microbiology Spectrum, Vol 10, Iss 4 (2022)

مصطلحات موضوعية: CRISPR/Cas9, Legionella pneumophila, phylogenetic analysis, targeted NGS, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2165-0497

URL الوصول: https://doaj.org/article/e9ebfda495d04cf8b50c51c71ef47c67

المؤلفون: Serena Corsini, Elena Pedrini, Claudio Patavino, Maria Gnoli, Marcella Lanza, Luca Sangiorgi

المصدر: Frontiers in Endocrinology, Vol 13 (2022)

مصطلحات موضوعية: CNV detection, Targeted NGS data, Rare skeletal disease, Multiple Osteochondromas, EXT1, EXT2, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2022.874126/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/a09ca03b26e24bba9508542aa1b6cce3

المؤلفون: Anna Skorczyk-Werner, Zuzanna Niedziela, Marcin Stopa, Maciej Robert Krawczyński

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-19 (2020)

مصطلحات موضوعية: Leber congenital amaurosis (LCA), Novel variants, SNP-microarray for LCA genes, Targeted NGS panel for LCA genes, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/d7aac159211542d7afe3f813e23a5828

المؤلفون: Hai-rong Wang, Yan-qiu Liu, Xue-lian He, Jun Sun, Fan-wei Zeng, Cheng-bin Yan, Hao Li, Shu-yang Gao, Yun Yang

المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-7 (2020)

مصطلحات موضوعية: Propionic acidemia, Propionyl-CoA carboxylase, PCCA, Targeted NGS, Delins, BAM diagram, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-020-01102-1; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/97f740796a8941f5994909435bc18dd4

المؤلفون: Antonio Cristiano, Raffaele Palmieri, Emiliano Fabiani, Tiziana Ottone, Mariadomenica Divona, Arianna Savi, Francesco Buccisano, Luca Maurillo, Corrado Tarella, William Arcese, Maria Teresa Voso

المصدر: Mediterranean Journal of Hematology and Infectious Diseases, Vol 14, Iss 1 (2022)

مصطلحات موضوعية: Venetoclax, venetoclax/azacitidine combination, AML, t-CMML, targeted-NGS, Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: https://www.mjhid.org/index.php/mjhid/article/view/4965; https://doaj.org/toc/2035-3006

URL الوصول: https://doaj.org/article/5d7661ee23d74c37974762e63adf7133

المؤلفون: Jing Song, Weili Du, Zichen Liu, Jialu Che, Kun Li, Nanying Che

المصدر: Microbiology Spectrum, Vol 10, Iss 1 (2022)

مصطلحات موضوعية: amplicon-based targeted NGS, tuberculosis, drug resistant mutations, FFPE tissue samples, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2165-0497

URL الوصول: https://doaj.org/article/c687f5bac152483e96dacf8481a9c53a

المؤلفون: Paulina Szadkowska, Adria-Jaume Roura, Bartosz Wojtas, Kamil Wojnicki, Sabina Licholai, Tomasz Waller, Tomasz Gubala, Kacper Zukowski, Michal Karpeta, Kinga Wilkus, Wojciech Kaspera, Sergiusz Nawrocki, Bozena Kaminska

المصدر: Cancers; Volume 14; Issue 16; Pages: 3902

مصطلحات موضوعية: liquid biopsy, glioma, circulating tumor DNA, ccfDNA, targeted NGS

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/cancers14163902

الاتاحة: https://doi.org/10.3390/cancers14163902

المؤلفون: Georgios I. Papageorgiou, Evangelos Fergadis, Nikos Skouteris, Evridiki Christakos, Sergios A. Tsakatikas, Evangelos Lianos, Christos Kosmas

المصدر: Frontiers in Oncology, Vol 11 (2021)

مصطلحات موضوعية: PARP inhibition, ATM mutation, colorectal cancer, targeted NGS, case report, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fonc.2021.788809/full; https://doaj.org/toc/2234-943X

URL الوصول: https://doaj.org/article/d0462d14688f4ca3bc41ba28ea0ba502

المؤلفون: Neemat M. Kassem, Gamal Emera, Hebatallah A. Kassem, Nashwa Medhat, Basant Nagdy, Mustafa Tareq, Rabab Abdel Moneim, Mohammed Abdulla, Wafaa H. El Metenawy

المصدر: Egyptian Journal of Medical Human Genetics, Vol 20, Iss 1, Pp 1-9 (2019)

مصطلحات موضوعية: Colorectal cancer, Targeted NGS, KRAS mutation, MSI, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s43042-019-0028-z; https://doaj.org/toc/2090-2441

URL الوصول: https://doaj.org/article/b93dbb8846654f13beab3a82aecc7728

المؤلفون: Hairong Wang, Yang Wan, Yun Yang, Hao Li, Liangwei Mao, Shuyang Gao, Jingjing Xu, Jing Wang

المصدر: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-6 (2019)

مصطلحات موضوعية: Oculocutaneous albinism, OCA2, Non-syndromic, Gross deletion, Targeted NGS, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-019-0850-7; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/f407d6ed6fda470b9a9d9392c82c6786