المؤلفون: Snyder, Allison, Ryan, Veronica H, Hawrot, James, Lawton, Sydney, Ramos, Daniel M, Qi, Y Andy, Johnson, Kory R, Reed, Xylena, Johnson, Nicholas L, Kollasch, Aaron W, Duffy, Megan F, VandeVrede, Lawren, Cochran, J Nicholas, Miller, Bruce L, Toro, Camilo, Bielekova, Bibiana, Marks, Debora S, Yokoyama, Jennifer S, Kwan, Justin Y, Cookson, Mark R, Ward, Michael E

المصدر: Alzheimer's & Dementia. 20(8)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Neurodegenerative, Rare Diseases, Genetics, Brain Disorders, 2.1 Biological and endogenous factors, Neurological, Humans, DNA-Binding Proteins, Annexins, Male, Mutation, Female, Amyotrophic Lateral Sclerosis, Neurons, Frontotemporal Dementia, Middle Aged, Aged, ANXA11, corticobasal syndrome, TDP-43, variant of uncertain significance, TDP‐43, Geriatrics, Clinical sciences, Biological psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2r7227zw
https://escholarship.org/content/qt2r7227zw/qt2r7227zw.pdf

المؤلفون: Chopra, Maya, Savatt, Juliann, Bingaman, Taylor, Good, Molly, Morgan, Alexis, Cooney, Caitlin, Rossel, Allison, VanHoute, Bryanna, Cordova, Ineke, Mahida, Sonal, Lanzotti, Virginia, Baldridge, Dustin, Gurnett, Christina, Piven, Joseph, Hazlett, Heather, Pomeroy, Scott, Sahin, Mustafa, Payne, Philip, Riggs, Erin, Constantino, John

المصدر: Genetics in Medicine. 26(3)

مصطلحات موضوعية: Autism, Gene curation, Intellectual disability, Neurodevelopmental disorders, Variant of uncertain significance, Humans, Genetic Variation, Databases, Genetic, Genetic Testing, Phenotype, Brain

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8k68d1b9

المؤلفون: Yara Hussein, Hila Weisblum‐Neuman, Bruria Ben Zeev, Shani Stern

المصدر: Epilepsia Open, Vol 9, Iss 6, Pp 2443-2453 (2024)

مصطلحات موضوعية: epilepsy, next‐generation sequencing, RANBP2, RYR3, SCN9A, variant of uncertain significance, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2470-9239

URL الوصول: https://doaj.org/article/8b174e20817840b48b32ee1a0169fcb3

المؤلفون: Won Hoon Choi, Yeijean Cho, Ju Hyuen Cha, Dae Hee Lee, Jong Gwan Jeong, Sung Ho Jung, Jae-Jin Song, Jun Ho Lee, Sang-Yeon Lee

المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)

مصطلحات موضوعية: ESRRB, DFNB35, Variant of uncertain significance, Functional study, Allele frequency, Medicine, Science

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/1b056249d8e546618ee0ff7a8b3b5ca8

المؤلفون: Nicola Rifino, Silvia Baratta, Esteban Zacarias, Isabella Canavero, Benedetta Storti, Mario Stanziano, Emanuela Maderna, Gianluca Marucci, Franco Taroni, Anna Bersano

المصدر: Clinical Parkinsonism & Related Disorders, Vol 12, Iss , Pp 100297- (2025)

مصطلحات موضوعية: CADASIL, Parkinsonism, Stroke, Variant of uncertain significance, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2590112525000015; https://doaj.org/toc/2590-1125

URL الوصول: https://doaj.org/article/e9d008c721d8493ea90cd96a48da56cd

المؤلفون: Cecilia Pynaker, Jacqui McCoy, Jane Halliday, Sharon Lewis, David J. Amor, Susan P. Walker, Lisa Hui, On behalf of the PALM cohort study group

المصدر: BMC Pediatrics, Vol 24, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: Prenatal diagnosis, Chromosomal microarray analysis, Copy number variants, Variant of uncertain significance, Perinatal outcomes, Cohort studies, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2431

URL الوصول: https://doaj.org/article/f567dae251164b458efae9ad27693720

المؤلفون: Deborah Cragun, Marleah Dean, David Baker, Meghan Kelley, Gillian Hooker, Anne Weidner, Paige Hunt, Tuya Pal

المصدر: Current Oncology, Vol 31, Iss 6, Pp 3361-3378 (2024)

مصطلحات موضوعية: ambiguity, cancer gene, family sharing, genetics, variant of uncertain significance, VUS, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1718-7729/31/6/256; https://doaj.org/toc/1198-0052; https://doaj.org/toc/1718-7729

URL الوصول: https://doaj.org/article/e65be200173b491d876feba24eac5507

المؤلفون: D. S. Bug, I. S. Moiseev, Yu. B. Porozov, N. V. Petukhova

المصدر: Frontiers in Molecular Biosciences, Vol 11 (2024)

مصطلحات موضوعية: Dicer1, variant of uncertain significance, variant effect prediction, gene evolution, oncology, molecular dynamics, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmolb.2024.1517143/full; https://doaj.org/toc/2296-889X

URL الوصول: https://doaj.org/article/ef426bea8208467290508076df08bc91

المؤلفون: D. S. Bug, I. S. Moiseev, Yu. B. Porozov, N. V. Petukhova

المصدر: Frontiers in Molecular Biosciences, Vol 11 (2024)

مصطلحات موضوعية: Dicer1, variant of uncertain significance, variant effect prediction, gene evolution, oncology, molecular dynamics, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmolb.2024.1441180/full; https://doaj.org/toc/2296-889X

URL الوصول: https://doaj.org/article/e0463cd7c0ab4a61874da5aef4048d61

المؤلفون: Morandi, Anita, Fornari, Elena, Corradi, Massimiliano, Umano, Giuseppina Rosaria, Olivieri, Francesca, Piona, Claudia, Maguolo, Alice, Panzeri, Carola, Emiliani, Federica, Cirillo, Grazia, Cavarzere, Paolo, Miraglia Del Giudice, Emanuele, Maffeis, Claudio

المصدر: Pediatric obesity EXODIAB: Excellence of Diabetes Research in Sweden. 19(12)

مصطلحات موضوعية: childhood obesity, follow-up reassessment, leptin/melanocortin circuit, monogenic obesity, next-generation sequencing, variant interpretation, variant of uncertain significance, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Medical and Health Sciences, Basic Medicine, Medical Genetics

URL الوصول: https://lup.lub.lu.se/record/45fb87c4-3594-40c7-927c-3f8be5c9c8d7
http://dx.doi.org/10.1111/ijpo.13183

المؤلفون: Krey, Ilona, Platzer, Konrad, Esterhuizen, Alina, Berkovic, Samuel, Helbig, Ingo, Hildebrand, Michael, Lerche, Holger, Møller, Rikke, Poduri, Annapurna, Sadleir, Lynette, Sisodiya, Sanjay, Weckhuysen, Sarah, Wilmshurst, Jo, Weber, Yvonne, Lemke, Johannes, Cross, J, Lowenstein, Daniel, Mefford, Heathea, Perucca, Piero, Tan, Nigel, Caglayan, Hande, Helbig, Katherine, Singh, Gagandeep

المصدر: Epileptic Disorders: international epilepsy journal with videotape. 24(5)

مصطلحات موضوعية: genetic epilepsy, next-generation sequencing, genetic counseling genetic testing, variant of uncertain significance, precision medicine, Diagnostic Techniques and Procedures, Epilepsy, Genetic Testing, Humans

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/25f6t716

المؤلفون: Bayan AlNassir, Hessah AlOtaibi

المصدر: Journal of Clinical and Translational Endocrinology Case Reports, Vol 32, Iss , Pp 100164- (2024)

مصطلحات موضوعية: Aldosterone synthase deficiency, Isolated primary hypoaldosteronism, CYP11B2, Variant of uncertain significance, Autosomal recessive, Salt wasting, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214624524000030; https://doaj.org/toc/2214-6245

URL الوصول: https://doaj.org/article/984ed4654a0a4c90a0c1208a79298eb2

المؤلفون: Malavika Hebbar, Nawaf Al-Taweel, Inderpal Gill, Cyrus Boelman, Richard A. Dean, Samuel J. Goodchild, Janette Mezeyova, Noah Gregory Shuart, J. P. Johnson, James Lee, Aspasia Michoulas, Linda L. Huh, Linlea Armstrong, Mary B. Connolly, Michelle K. Demos

المصدر: BMC Neurology, Vol 24, Iss 1, Pp 1-7 (2024)

مصطلحات موضوعية: SCN8A, Developmental and Epileptic Encephalopathy, Epilepsy, Seizure, Electrophysiological study, Variant of Uncertain significance, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2377

URL الوصول: https://doaj.org/article/43583f46e51b463e9cf44723adcab993

المؤلفون: Rodrigues, Pedro, Theisen, Patrícia, Gonçalves, João

المساهمون: Repositório Científico do Instituto Nacional de Saúde

مصطلحات موضوعية: BRCA1, BRCA2, NGS, ACMG, HBOC, VUS, Variant of Uncertain Significance, Doenças Genéticas

وصف الملف: application/pdf

الاتاحة: http://hdl.handle.net/10400.18/9151

المؤلفون: Kate L. Thomson, Connie Jiang, Ebony Richardson, Dominik S. Westphal, Tobias Burkard, Cordula M. Wolf, Matteo Vatta, Steven M. Harrison, Jodie Ingles, Connie R. Bezzina, Brett M. Kroncke, Jamie I. Vandenberg, Chai-Ann Ng

المصدر: HGG Advances, Vol 5, Iss 2, Pp 100270- (2024)

مصطلحات موضوعية: Arrhythmia, Automated Patch Clamp, Variant classification, Variant of Uncertain Significance, long QT syndrome, Functional assay, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247724000095; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/45cd34fb97534a84883eace8c131e642

المؤلفون: Nathan A. Keller, Luis A. Bracero, Insaf Kouba, Abigail Steinberg, Jolene Muscat, David Bergman

المصدر: Case Reports in Women's Health, Vol 41, Iss , Pp e00583- (2024)

مصطلحات موضوعية: Calcium/calmodulin dependent serine protein kinase (CASK) gene, Whole-exome sequencing (WES), Variant of uncertain significance, Monochorionic diamniotic, Case report, Surgery, RD1-811, Gynecology and obstetrics, RG1-991

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214911224000043; https://doaj.org/toc/2214-9112

URL الوصول: https://doaj.org/article/79df76ecbd224ab79bc134a1852ce1a1

المؤلفون: Reema Alduaiji, Laila Alqahtani, Reema Alqadiri, Lena Alotaibi, Mostafa abolfotouh, Majid Alfadhel

المصدر: Journal of Biochemical and Clinical Genetics, Vol 6, Iss 1, Pp 36-40 (2023)

مصطلحات موضوعية: pgt-m, vous, a variant of uncertain significance, preimplantation genetic testing, variant, saudi arabia, geneticists, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.ejmanager.com/fulltextpdf.php?mno=144284; https://doaj.org/toc/1658-807X

URL الوصول: https://doaj.org/article/49a8498dd5734d4dbc38c56fcec449ab

المؤلفون: Sebastien Audet, Valerie Triassi, Myriam Gelinas, Nab Legault-Cadieux, Vincent Ferraro, Antoine Duquette, Martine Tetreault

المصدر: Frontiers in Genetics, Vol 14 (2024)

مصطلحات موضوعية: genomics, transcriptomics, ataxia, long-read sequencing (LRS), variant of uncertain significance (VUS), whole genome sequencing (WGS), Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1304711/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/febc620e189044fca3be1a00e503a120

المؤلفون: Reema W. Aljassar, Qianyi Shen, Buthaina Albash, Jamie I. Vandenberg, Mohammad A. Ebrahim, Chai-Ann Ng

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101868- (2024)

مصطلحات موضوعية: Automated Patch Clamp, Channelopathies, KCNH2, Long QT syndrome, Variant of uncertain significance, Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424010148; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/74bbb0ef9290474da5cd68717fed3959

المؤلفون: Josianne Nunes Carriço, Catarina Inês Gonçalves, José Maria Aragüés, Manuel Carlos Lemos

المصدر: International Journal of Molecular Sciences ; Volume 25 ; Issue 22 ; Pages: 12061

مصطلحات موضوعية: Kallmann syndrome, congenital hypogonadotropic hypogonadism, fertility, CHD7, genetics, mutation, variant of uncertain significance, VUS, splicing

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Endocrinology and Metabolism; https://dx.doi.org/10.3390/ijms252212061

الاتاحة: https://doi.org/10.3390/ijms252212061