المؤلفون: M. Chetta, M. Tarsitano, M. Rivieccio, M. Oro, A.L. Cammarota, M. De Marco, L. Marzullo, A. Rosati, N. Bukvic

المصدر: Computational and Structural Biotechnology Journal, Vol 23, Iss , Pp 2615-2622 (2024)

مصطلحات موضوعية: Multigenic Analysis, Mendelian diseases, Clinical Exome Sequencing, Biotechnology, TP248.13-248.65

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2001037024002083; https://doaj.org/toc/2001-0370

URL الوصول: https://doaj.org/article/c83dae1913b140e2ae48f77c984344ea

المؤلفون: Shrinjana Dhar, Pritha Bhattacharjee

المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-16 (2024)

مصطلحات موضوعية: Polycystic ovarian syndrome (PCOS), Next-generation sequencing (NGS), Clinical-exome sequencing (CES), Comorbidity analysis, Mutation-phenotype interactions, Molecular screening, Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/645e6b939ecc47ffbd270aa0b1b2b603

المؤلفون: Bobbi McGivern, Michelle M. Morrow, Erin Torti, Kirsty McWalter, Ingrid M. Wentzensen, Kristin G. Monaghan, Amanda Gerard, Laurie Robak, David Chitayat, Claire Botsford, Sarah Jurgensmeyer, Peter Leahy, Paul Kruszka

المصدر: HGG Advances, Vol 6, Iss 1, Pp 100387- (2025)

مصطلحات موضوعية: MGA, clinical exome sequencing, candidate gene, gene discovery, congenital anomalies, neurodevelopmental disorder, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247724001271; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/a3ad958ae5ee4a55936d83f8caf4555a

المؤلفون: Erfan Aref-Eshghi, Katherine J. Anderson, Lauren Boulay, Kathleen Brown, Jessica Duis, Christine A. Giummo, Jessica Ogawa, Deanna Alexis Carere, Elizabeth A. Normand, Yaping Qian, Kirsty McWalter, Erin Torti

المصدر: HGG Advances, Vol 6, Iss 1, Pp 100384- (2025)

مصطلحات موضوعية: RUNX1T1, clinical exome sequencing, neurodevelopmental disorder, autism, congenital anomalies, candidate gene, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247724001246; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/c2f349dfe2e048f4801d494abc5fbe23

المؤلفون: Katia Margiotti, Marco Fabiani, Antonella Cima, Francesco Libotte, Alvaro Mesoraca, Claudio Giorlandino

المصدر: Current Issues in Molecular Biology, Vol 46, Iss 4, Pp 3209-3217 (2024)

مصطلحات موضوعية: fetal anomalies, clinical exome sequencing, chromosomal microarray analysis, prenatal diagnosis, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1467-3045/46/4/201; https://doaj.org/toc/1467-3037; https://doaj.org/toc/1467-3045

URL الوصول: https://doaj.org/article/3b12cc06c3e3433f88af0926c66469f2

المؤلفون: Hui Xiao, Huiyao Chen, Xiang Chen, Yulan Lu, Bingbing Wu, Huijun Wang, Yun Cao, Liyuan Hu, Xinran Dong, Wenhao Zhou, Lin Yang

المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-15 (2023)

مصطلحات موضوعية: Small for gestational age (SGA), Newborn, Clinical exome sequencing, Prediction model, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/a13219e6102b4b708d625471812653ae

المؤلفون: Ji Yoon Han, Tae Yun Kim, Joonhong Park

المصدر: Biomedicines, Vol 12, Iss 12, p 2663 (2024)

مصطلحات موضوعية: adolescent-onset epilepsy, neurodevelopmental delay, chromosomal microarray, clinical exome sequencing, genetic diagnosis, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9059/12/12/2663; https://doaj.org/toc/2227-9059

URL الوصول: https://doaj.org/article/932f9ae274c0439682b4de0c49357f4b

المؤلفون: Katia Margiotti, Marco Fabiani, Antonella Cima, Antonella Viola, Francesca Monaco, Chiara Alì, Costanza Zangheri, Carmela Abramo, Claudio Coco, Alvaro Mesoraca, Claudio Giorlandino

المصدر: Diagnostics, Vol 14, Iss 22, p 2601 (2024)

مصطلحات موضوعية: skeletal ciliopathies, clinical exome sequencing (CES), prenatal diagnosis, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2075-4418/14/22/2601; https://doaj.org/toc/2075-4418

URL الوصول: https://doaj.org/article/10c780a885c44b8daff8e688cd5979c9

المؤلفون: Anđelković, Marina, Klaassen, Kristel, Skakić, Anita, Marjanović, Irena, Kravljanac, Ružica, Đorđević, Maja, Vučetić Tadić, Biljana, Kecman, Božica, Pavlović, Sonja, Stojiljković, Maja

المصدر: Genetics & Applications

مصطلحات موضوعية: childhood epilepsy, monogenic disease, clinical-exome sequencing, whole-exome sequencing, novel genetic variants

Relation: https://imagine.imgge.bg.ac.rs/handle/123456789/2660; https://imagine.imgge.bg.ac.rs/bitstream/id/846332/bitstream_846332.pdf

الاتاحة: https://imagine.imgge.bg.ac.rs/handle/123456789/2660
https://doi.org/10.31383/ga.speced05
https://imagine.imgge.bg.ac.rs/bitstream/id/846332/bitstream_846332.pdf

المؤلفون: Claudia Saglia, Valeria Bracciamà, Luca Trotta, Fiorenza Mioli, Angelo Corso Faini, Giulia Margherita Brach Del Prever, Silvia Kalantari, Maria Luca, Carmelo Maria Romeo, Caterina Scolari, Licia Peruzzi, Pier Luigi Calvo, Alessandro Mussa, Roberta Fenoglio, Dario Roccatello, Claudio Alberti, Diana Carli, Antonio Amoroso, Silvia Deaglio, Tiziana Vaisitti

المصدر: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-13 (2023)

مصطلحات موضوعية: Clinical exome sequencing, Next-generation sequencing, Kidney Diseases, Liver Diseases, Genetic re-analysis, Variant re-classification, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/1e7a2209db66432fa0f2f4bd0da27469

المؤلفون: María Juliana Ballesta-Martínez, Virginia Pérez-Fernández, Vanesa López-González, María José Sánchez-Soler, Ana Teresa Serrano-Antón, Lidia Isolina Rodríguez-Peña, Maria Barreda-Sánchez, Lluís Armengol-Dulcet, Encarna Guillén-Navarro

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)

مصطلحات موضوعية: Intellectual disability, Global developmental delay, Exome sequencing, NGS, Clinical exome sequencing, Diagnostic yield, Medicine

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/e6e8ba58378b4a60bbb269d823070007

المؤلفون: Dmitriy V. I, Viktoriya A. Ioksha, Tatyana N. Proskokova

المصدر: Анналы клинической и экспериментальной неврологии, Vol 17, Iss 2, Pp 28-35 (2023)

مصطلحات موضوعية: clinical exome sequencing, general developmental delay, intellectual deficiency, intellectual disability, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://annaly-nevrologii.com/journal/pathID/article/viewFile/901/pdf; https://doaj.org/toc/2075-5473; https://doaj.org/toc/2409-2533

URL الوصول: https://doaj.org/article/b9ec1d862e614f398bc601eb8557f7c5

المؤلفون: Martina Rimoldi, Gloria Romagnoli, Francesca Magri, Sara Antognozzi, Claudia Cinnante, Elena Saccani, Patrizia Ciscato, Simona Zanotti, Daniele Velardo, Stefania Corti, Giacomo Pietro Comi, Dario Ronchi

المصدر: Frontiers in Neurology, Vol 14 (2024)

مصطلحات موضوعية: LGMDR8, TRIM32, limb-girdle muscular dystrophy, clinical exome sequencing, tripartite motif-containing proteins, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1281953/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/d180e895436a40228da323ce031c98b6

المؤلفون: Ji Yoon Han, Jin Gwack, Tae Yun Kim, Joonhong Park

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 18, p 9823 (2024)

مصطلحات موضوعية: hepatocyte nuclear factor-1-beta, HNF1B, maturity-onset diabetes of the young, renal cyst, hepatic cyst, clinical exome sequencing, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/25/18/9823; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/fa8839c579e749bdb2bf4f0f04db64fa

الاتاحة: https://doi.org/10.3390/ijms25189823
https://doaj.org/article/fa8839c579e749bdb2bf4f0f04db64fa

المؤلفون: Ji Yoon Han, Tae Yun Kim, Jin Gwack, Joonhong Park

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 19, p 10327 (2024)

مصطلحات موضوعية: Aristaless-related homeobox, X linked, ARX, intellectual developmental disorder, X linked 29, developmental epileptic encephalopathy, agenesis of the corpus callosum, clinical exome sequencing, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/25/19/10327; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/9c5c5e81aedf4b1f8f3c2e61f720010a

الاتاحة: https://doi.org/10.3390/ijms251910327
https://doaj.org/article/9c5c5e81aedf4b1f8f3c2e61f720010a

المؤلفون: Vorsteveld, Emil E, Van der Made, Caspar I, Smeekens, Sanne P, Schuurs-Hoeijmakers, Janneke H, Astuti, Galuh, Diepstra, Heleen, Gilissen, Christian, Hoenselaar, Evelien, Janssen, Alice, van Roozendaal, Kees, Engelen, Jettie Sikkema-van, Steyaert, Wouter, Weiss, Marjan M, Yntema, Helger G, Mantere, Tuomo, AlZahrani, Mofareh S, van Aerde, Koen, Derfalvi, Beata, Faqeih, Eissa Ali, Henriet, Stefanie S V, van Hoof, Elise, Idressi, Eman, Issekutz, Thomas B, Jongmans, Marjolijn C J, Keski-Filppula, Riikka, Krapels, Ingrid, Te Loo, Maroeska, Mulders-Manders, Catharina M, Ten Oever, Jaap, Potjewijd, Judith, Sarhan, Nora Tarig, Slot, Marjan C, Terhal, Paulien A, Thijs, Herman, Vandersteen, Anthony, Vanhoutte, Els K, van de Veerdonk, Frank, van Well, Gijs, Netea, Mihai G, Simons, Annet, Hoischen, Alexander, Arts, Rob J W, Bijker, Else M, Bruno, Mariolina, Hobo, Willemijn, Hoppenreijs, Esther, de Jonge, Marien I, van Laarhoven, Arjan

المصدر: Vorsteveld , E E , Van der Made , C I , Smeekens , S P , Schuurs-Hoeijmakers , J H , Astuti , G , Diepstra , H , Gilissen , C , Hoenselaar , E , Janssen , A , van Roozendaal , K , Engelen , J S , Steyaert , W , Weiss , M M , Yntema , H G , Mantere , T , AlZahrani , M S , van Aerde , K , Derfalvi , B , Faqeih , E A , Henriet , S S V , van Hoof , E ....

مصطلحات موضوعية: Autoimmune disorders, Autoinflammatory disorders, Clinical exome sequencing, Exome reanalysis, Genomics, Inborn errors of immunity, Longitudinal follow-up, NGS-based sequencing, Primary immunodeficiencies

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/97b73946-b820-4927-b5a1-147451f209b6
https://doi.org/10.1016/j.clim.2024.110375

المؤلفون: Kyung Hee Kim, Ji Yoon Han, Joonhong Park, Jung Sun Cho

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 7, p 3701 (2024)

مصطلحات موضوعية: CAFDADD syndrome, blepharophimosis-mental retardation syndromes, TRAF7, p.Arg655Gln, clinical exome sequencing, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/25/7/3701; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/ca584b75a04c43f09b84c5b6206ff109

الاتاحة: https://doi.org/10.3390/ijms25073701
https://doaj.org/article/ca584b75a04c43f09b84c5b6206ff109

المؤلفون: Carlo Santaniello, Alice Faversani, Luigi Corsaro, Giulia Melloni, Silvia Motta, Elena Mandorino, Davide Sacco, Sabine Stioui, Fulvio Ferrara, Davide Barteselli, Dario De Vita, Debora Manuelli, Lucy Costantino

المصدر: Genes, Vol 15, Iss 5, p 536 (2024)

مصطلحات موضوعية: Adams–Oliver syndrome, ARHGAP31, clinical exome sequencing, limb defects, Genetics, QH426-470

Relation: https://www.mdpi.com/2073-4425/15/5/536; https://doaj.org/toc/2073-4425; https://doaj.org/article/9e23473e40454dae94a9152b0ba0ebdb

الاتاحة: https://doi.org/10.3390/genes15050536
https://doaj.org/article/9e23473e40454dae94a9152b0ba0ebdb

المؤلفون: Sanders, Stephan J, Schwartz, Grace B, Farh, Kyle Kai-How

المصدر: Genome Medicine. 12(1)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Human Genome, Brain Disorders, Neurosciences, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Humans, Neurodevelopmental Disorders, RNA Splicing, Gene splicing, Isoform, SpliceAI, Autism spectrum disorder, Developmental delay, Clinical exome sequencing, Cryptic splice site, Canonical splice site, Polypyrimidine tract, Antisense oligonucleotide, Clinical Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0s11z78z
https://escholarship.org/content/qt0s11z78z/qt0s11z78z.pdf

المؤلفون: Maria Asaad, Mona Mahfood, Abdullah Al Mutery, Abdelaziz Tlili

المصدر: Human Genomics, Vol 17, Iss 1, Pp 1-10 (2023)

مصطلحات موضوعية: Non-syndromic hearing loss, Frameshift mutation, Splice site mutation, MYO15A gene, OTOF gene, Clinical exome sequencing, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/9844d87463d34aa580257b0829e3ac7c