المؤلفون: Lucas-Sánchez, Marcel

المساهمون: University/Department: Universitat Pompeu Fabra. Departament de Medicina i Ciències de la Vida

Thesis Advisors: Comas, David

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: North Africa, Human genome, Functional variation, Whole exome sequencing, Trans-Saharan gene flow, Àfrica del Nord, Genoma humà, Variació funcional, Exomes complets, Migracions trans-Saharianes

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/689031

المؤلفون: Kumar, Mukesh, Sharma, Srishti, Pandey, Sanjay, Mammayil, Geetha, Pala Kuzhiyil, Aslam, Sreesh, Srijaya, Arakkal, Riyaz, Radhakrishnan, Divya M, Rajan, Roopa, Amalnath, Deepak, Gulati, Reena, Tayade, Naresh, Sadasivan, Shine, Valsan, Arun, Menon, Jagadeesh, Kamate, Mahesh, Mathur, Sandeep Kumar, Mahadevan, Radha, Dhingra, Bhavna, Rajan, Rajneesh, Singh, Kuldeep, Shalimar, Geevarghese, Suja K, Kumar, Vikram S, Menachery, John, Aliyar, Aminu, Bhoyar, Rahul C, Jolly, Bani, Jain, Abhinav, Vittal Rangan, Arvinden, Moitra, Trisha, Mhaske, Aditi, Gupta, Vishu, Senthivel, Vigneshwar, Mishra, Anushree, Saini, Arti, Gaharwar, Utkarsh, Sivasubbu, Sridhar, Scaria, Vinod, B K, Binukumar

مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Genetic Testing, Biotechnology, Clinical Research, Digestive Diseases, Genetics, Chronic Liver Disease and Cirrhosis, Human Genome, Liver Disease, Neurodegenerative, 2.1 Biological and endogenous factors, 2.4 Surveillance and distribution, ATP7B, gene burden analysis, molecular dynamic simulation, structural variants, variant, whole exome sequencing, Clinical sciences

URL الوصول: https://escholarship.org/uc/item/9c3087ss

المؤلفون: Mederos, Michael, Court, Colin, Dipardo, Benjamin, Pisegna, Joseph, Dawson, David, Joe Hines, O, Donahue, Timothy, Graeber, Thomas, Girgis, Mark, Tomlinson, James

مصطلحات موضوعية: genomic biomarker, pancreatic neuroendocrine tumor, prognosis, recurrence, whole‐exome sequencing

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/481649jp
https://escholarship.org/content/qt481649jp/qt481649jp.pdf

المؤلفون: Dong J, Liu M, Chen Q, Zha L

المصدر: International Journal of General Medicine, Vol Volume 18, Pp 447-458 (2025)

مصطلحات موضوعية: cardiomyopathy, hcm, whole exome sequencing, ttn, genetic testing, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.dovepress.com/a-case-study-identified-a-new-mutation-in-the-ttn-gene-for-inherited-h-peer-reviewed-fulltext-article-IJGM; https://doaj.org/toc/1178-7074

URL الوصول: https://doaj.org/article/ae353f2936c94525a0700457cb7b1805

المؤلفون: Yi-Lei Lu, Meng-wei Liu, Jie-Yuan Jin, Ding Pan

المصدر: Italian Journal of Pediatrics, Vol 51, Iss 1, Pp 1-9 (2025)

مصطلحات موضوعية: Receptor-Interacting Protein Kinase 4, Arthrogryposis multiplex congenital, Whole-exome sequencing, Sanger sequencing, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1824-7288

URL الوصول: https://doaj.org/article/8199057299e242b088938db46dc16273

المؤلفون: Dandan Wu, Ran Chen, Jerry Zhang, Wu Yan, Mengyin Chen, Dongqing Xia, Xiaonan Li, Yanyan Dai, Yinhua Chen, Rong Li

المصدر: Italian Journal of Pediatrics, Vol 51, Iss 1, Pp 1-9 (2025)

مصطلحات موضوعية: Children, Copy-number variation, Microdeletions, Microduplications, Neurodevelopmental disorders, Whole-exome sequencing, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1824-7288

URL الوصول: https://doaj.org/article/9956c92236d947e4a7d50b2d8e3a6230

المؤلفون: Simona Fecarotta, Lorenzo Vaccaro, Alessandra Verde, Marianna Alagia, Alessandro Rossi, Chiara Colantuono, Maria Teresa Cacciapuoti, Patrizia Annunziata, Sara Riccardo, Antonio Grimaldi, Tonya Fusco, Rosa De Santis, Fernando Barretta, Lucia Albano, Daniela Crisci, Fabiana Vallone, Antonietta Tarallo, Marcella Cesana, Nicola Brunetti-Pierri, Giulia Frisso, Margherita Ruoppolo, Davide Cacchiarelli, Giancarlo Parenti

المصدر: Orphanet Journal of Rare Diseases, Vol 20, Iss 1, Pp 1-10 (2025)

مصطلحات موضوعية: Newborn screening (NBS), Inherited metabolic disorders (IMDs), Whole exome sequencing (WES), Next-generation sequencing (NGS), Medicine

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/be2db783765c47a39f414a19fae526fc

المؤلفون: Amal Bouzid, Malek Belcadhi, Amal Souissi, Meryam Chelly, Fakher Frikha, Hela Gargouri, Crystel Bonnet, Fida Jebali, Salma Loukil, Christine Petit, Saber Masmoudi, Rifat Hamoudi, Mariem Ben Said

المصدر: Scientific Reports, Vol 15, Iss 1, Pp 1-13 (2025)

مصطلحات موضوعية: Developmental language disorder, whole exome sequencing, genetic etiology, candidate gene, ABHD14A, MRNIP, Medicine, Science

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/44f31e2ac63046eba9049a0ff515ffd1

المؤلفون: Pu Wang, Liming Gao, Wenyang Zhang, Rui Guo, Yin Xia

المصدر: World Journal of Surgical Oncology, Vol 23, Iss 1, Pp 1-8 (2025)

مصطلحات موضوعية: SDHD mutation, Hereditary head and neck paraganglioma, Genetic counseling, Family study, Whole exome sequencing, Surgery, RD1-811, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1477-7819

URL الوصول: https://doaj.org/article/5d195718e6e848278e08e356b7d91de3

المؤلفون: Zheng Zhou, Qi Qi, Wen-Hua Wang, Jie Dong, Juan-Juan Xu, Yu-Ming Feng, Zhi-Chuan Zou, Li Chen, Jin-Zhao Ma, Bing Yao

المصدر: Asian Journal of Andrology, Vol 27, Iss 1, Pp 113-119 (2025)

مصطلحات موضوعية: cfap300 variant, male infertility, primary ciliary dyskinesia, sperm flagella, whole-exome sequencing, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: https://journals.lww.com/10.4103/aja202477; https://doaj.org/toc/1008-682X

URL الوصول: https://doaj.org/article/80672ecdfbc845e59f62c13044598ec9

المؤلفون: Vasudha Mishra, Alka Singh, Michael Korzinkin, Xiangying Cheng, Claudia Wing, Viktoria Sarkisova, Ashwin L. Koppayi, Alexandra Pogorelskaya, Oksana Glushchenko, Manu Sundaresan, Venkat Thodima, Jack Carter, Koichi Ito, Peggy Scherle, Anna Trzcinska, Ivan Ozerov, Everett E. Vokes, Grayson Cole, Frank W. Pun, Le Shen, Yuxuan Miao, Alexander T. Pearson, Mark W. Lingen, Bruce Ruggeri, Ari J. Rosenberg, Alex Zhavoronkov, Nishant Agrawal, Evgeny Izumchenko

المصدر: Journal of Experimental & Clinical Cancer Research, Vol 44, Iss 1, Pp 1-20 (2025)

مصطلحات موضوعية: Adenoid cystic carcinoma (ACC), Protein arginine methyl transferase 5 (PRMT5), Organoid models, Patient derived xenografts (PDXs), PandaOmics, Whole exome sequencing, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-9966

URL الوصول: https://doaj.org/article/6623e6a41495406d97c09fcb53096de9

المؤلفون: Susana Valente, Mariana Ribeiro, Jennifer Schnur, Filipe Alves, Nuno Moniz, Dominik Seelow, João Parente Freixo, Paulo Filipe Silva, Jorge Oliveira

المصدر: BioMedInformatics, Vol 4, Iss 4, Pp 2374-2399 (2024)

مصطلحات موضوعية: regions of homozygosity, bioinformatic model, variant prioritization, whole-exome sequencing, consanguinity, multigene panels, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Computer applications to medicine. Medical informatics, R858-859.7

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2673-7426/4/4/128; https://doaj.org/toc/2673-7426

URL الوصول: https://doaj.org/article/c466cbf0c26641e29acd1b75dcbff192

المؤلفون: Ke CHEN, Jing SHI, Lijuan HU, Li ZHANG, Minlu CAO, Wei GUO, Meiling JIN

المصدر: Zhongguo Linchuang Yixue, Vol 31, Iss 6, Pp 1006-1010 (2024)

مصطلحات موضوعية: primary ciliary dyskinesia, bronchiectasis, allergic bronchopulmonary aspergillosis, whole exome sequencing, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1008-6358

URL الوصول: https://doaj.org/article/68e74ae33edc44ceba8f563633d954b0

المؤلفون: Milos Kubanek, Jana Binova, Lenka Piherova, Alice Krebsova, Martin Kotrc, Hana Hartmannova, Katerina Hodanova, Dita Musalkova, Viktor Stranecky, Tomas Palecek, Anna Chaloupka, Ilga Grochova, Jan Krejci, Jana Petrkova, Vojtech Melenovsky, Stanislav Kmoch, Josef Kautzner

المصدر: ESC Heart Failure, Vol 11, Iss 6, Pp 4127-4138 (2024)

مصطلحات موضوعية: Genetics, Left ventricular reverse remodelling, Prognosis, Recent‐onset dilated cardiomyopathy, Whole‐exome sequencing, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2055-5822

URL الوصول: https://doaj.org/article/527fdf4768734f069fd5779d79c28b42

المؤلفون: Hazal Banu Olgun Çelebioğlu, Ayşe Pınar Öztürk, Şükran Poyrazoğlu, Feyza Nur Tuncer

المصدر: JCRPE, Vol 16, Iss 4, Pp 450-457 (2024)

مصطلحات موضوعية: early-onset obesity, whole exome sequencing, paternal inheritance, novel variants, body mass index, Pediatrics, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://jcrpe.org/jvi.aspx?un=JCRPE-69672&volume=16&issue=4; https://doaj.org/toc/1308-5727; https://doaj.org/toc/1308-5735

URL الوصول: https://doaj.org/article/913c05379f30496ba29b2fc1e616af7d

المؤلفون: Zahra Beyzaei, Hossein Moravej, Mohammad Hadi Imanieh, Sorour Inaloo, Bita Geramizadeh

المصدر: BMC Pediatrics, Vol 24, Iss 1, Pp 1-10 (2024)

مصطلحات موضوعية: Methylmalonic acidemia, Vitamin B12/hydroxocobalamin, Novel mutation, Whole exome sequencing, Pediatrics, RJ1-570

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/0f607f0aa1f44c4598511b9acf2e0f5c

المؤلفون: Ismael Henarejos-Castillo, Francisco José Sanz, Cristina Solana-Manrique, Patricia Sebastian-Leon, Ignacio Medina, José Remohi, Nuria Paricio, Patricia Diaz-Gimeno

المصدر: Reproductive Biology and Endocrinology, Vol 22, Iss 1, Pp 1-13 (2024)

مصطلحات موضوعية: Ovarian failure, Primary ovarian insufficiency, Ovarian function, Whole-exome sequencing, Single nucleotide variant, Variant prioritization, Gynecology and obstetrics, RG1-991, Reproduction, QH471-489

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1477-7827

URL الوصول: https://doaj.org/article/e210381c7f794829b1ba8195aae4a769

المؤلفون: Zhou, Wei, Ås, Joel, Shore-Lorenti, Catherine, Nguyen, Hanh H., van de Laarschot, Denise M., Sztal-Mazer, Shoshana, Grill, Vivian, Girgis, Christian M., Stricker, Bruno H. Ch., van der Eerden, Bram C. J., Thakker, Rajesh V., Appelman-Dijkstra, Natasha M., Wadelius, Mia, Clifton-Bligh, Roderick J., Hallberg, Pär, 1974, Verkerk, Annemieke J. M. H., van Rooij, Jeroen G. J., Ebeling, Peter R., Zillikens, M. Carola

المصدر: Journal of Bone and Mineral Research. 39(9):1315-1326

مصطلحات موضوعية: whole exome sequencing, atypical femur fractures, bisphosphonates, osteoporosis, gene

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-526953
https://doi.org/10.1093/jbmr/zjae122
https://uu.diva-portal.org/smash/get/diva2:1853066/FULLTEXT01.pdf

المؤلفون: Dols Icardo, Oriol

المساهمون: University/Department: Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut

Thesis Advisors: Clarimón Echavarria, Jordi

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Amyotrophic lateral sclerosis, Frontotemporal dementia, Genetic overlap, C9orf72, Whole-exome sequencing, Esclerosi lateral amiotròfica, Demència frontotemporal, Solapament genètic, Seqüenciació de l’exoma

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/523545

المؤلفون: Plumacker, Florence, Mouraux, Charlotte, Depierreux, Frédérique

المساهمون: GIGA Research, CRC Human Imaging, University of Liège, B-4000 Liège, Belgium

المصدر: Neurodevelopmental syndromes & movement disorders - International symposium, Barcelone, Spain [ES], 6-7 février 2025

مصطلحات موضوعية: paediatric movement disorders, diagnostic algorithm, inherited movement disorders, genetic analysis, NGS panel, whole exome sequencing, whole genome sequencing, Human health sciences, Neurology, Pediatrics, Sciences de la santé humaine, Neurologie, Pédiatrie

وصف الملف: 1

URL الوصول: https://orbi.uliege.be/handle/2268/327298