المؤلفون: Moreno Ruiz, Nerea

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

Thesis Advisors: Casals López, Ferran, Laayouni, Hafid

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Digenic inheritance, Whole-Genome sequencing, RNA sequencing, Rare disorders, Genetic diagnosis, Herencia digénica, Secuenciación de genoma completo, Secuenciación de RNA, Enfermedades raras, Diagnóstico genético

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/691532

المؤلفون: Bomi Lim, Anna Cho, Jaehyun Kim, Sang Mee Hwang, Soo Yeon Kim, Jong-Hee Chae, Hyoung Soo Choi

المصدر: Clinical Pediatric Hematology-Oncology, Vol 31, Iss 2, Pp 52-55 (2024)

مصطلحات موضوعية: amed (aplastic anemia, mental retardation, and dwarfism) syndrome, add (aldehyde degradation deficiency) syndrome, aldh2, adh5, digenic multisystem disorder, bone marrow failure, Pediatrics, RJ1-570, Internal medicine, RC31-1245, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: http://www.cpho.or.kr/journal/view.html?doi=10.15264/cpho.2024.31.2.52; https://doaj.org/toc/2233-5250

URL الوصول: https://doaj.org/article/4cd387db0ade4062bb4289f576ad3f11

المؤلفون: Ayat Kadhi, Lamiaa Hamie, Edward Eid, Georges Nemer, Mazen Kurban

المصدر: Dermatology Practical & Conceptual, Vol 15, Iss 1 (2025)

مصطلحات موضوعية: Digenic inheritance, Genodermatoses, Whole-exome sequencing, Microarray Gene Expression DataSets, Dermatology, RL1-803

وصف الملف: electronic resource

Relation: https://dpcj.org/index.php/dpc/article/view/4935; https://doaj.org/toc/2160-9381

URL الوصول: https://doaj.org/article/b67d1774f6674270b16f9de4b9c01105

المؤلفون: Hideki Uedono, Katsuhito Mori, Shinya Nakatani, Kohei Watanabe, Rino Nakaya, Fumiyuki Morioka, Kazuma Sone, Chie Ono, Junko Hotta, Akihiro Tsuda, Naoya Morisada, Toshiyuki Seto, Kandai Nozu, Masanori Emoto

المصدر: Case Reports in Nephrology and Dialysis, Vol 14, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: alport syndrome, novel variants, digenic alport syndrome, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: https://beta.karger.com/Article/FullText/535493; https://doaj.org/toc/2296-9705

URL الوصول: https://doaj.org/article/f5a7078a2df046aa9981ea1649ec053c

المؤلفون: Yiting Liu, Jing Sun, Caiqi Zhang, Yi Wu, Siyuan Ma, Xuechun Li, Xiaoshan Wu, Qingping Gao

المصدر: BMC Oral Health, Vol 24, Iss 1, Pp 1-12 (2024)

مصطلحات موضوعية: Hypohidrotic ectodermal dysplasia, EDA, WNT10A, Digenic variations, Tooth agenesis, Development, Dentistry, RK1-715

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1472-6831

URL الوصول: https://doaj.org/article/d24b7f9339064e929531dc3e2455c5b4

المؤلفون: Ibrahim Sahin, Nefise Kandemir, Hanife Saat

المصدر: Egyptian Journal of Medical Human Genetics, Vol 24, Iss 1, Pp 1-7 (2023)

مصطلحات موضوعية: Alport syndrome, COL4A3, COL4A4, COL4A5, Digenic, Genetic modifier, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-2441

URL الوصول: https://doaj.org/article/7af97a29acb04391b2599069def5f740

المؤلفون: Delvadiya, I. R.¹, Madariya, R. B.¹, Ginoya, A. V.

المصدر: Indian Journal of Genetics and Plant Breeding (The) 82(4):490-498. 2022

المؤلفون: Mark Yun, Zuoming Deng, Brianne Navetta-Modrov, Baozhong Xin, Jie Yang, Hafsa Nomani, Olga Aroniadis, Peter D. Gorevic, Qingping Yao

المصدر: Frontiers in Immunology, Vol 14 (2024)

مصطلحات موضوعية: autoinflammatory disease, Cryopyrin-associated periodic syndrome, digenic, genetically transitional disease, mutation, NLRP3, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2023.1321370/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/3b37f0562fa14d03a02ac1612bfb9dbc

المؤلفون: Blickhäuser, Beryll, Stenton, Sarah L, Neuhofer, Christiane M, Floride, Elisa, Nesbitt, Victoria, Fratter, Carl, Koch, Johannes, Kauffmann, Birgit, Catarino, Claudia, Schlieben, Lea Dewi, Kopajtich, Robert, Carelli, Valerio, Sadun, Alfredo A, McFarland, Robert, Fang, Fang, La Morgia, Chiara, Paquay, Stéphanie, Nassogne, Marie Cécile, Ghezzi, Daniele, Lamperti, Costanza, Wortmann, Saskia, Poulton, Jo, Klopstock, Thomas, Prokisch, Holger

المساهمون: B. Blickhäuser, S.L. Stenton, C.M. Neuhofer, E. Floride, V. Nesbitt, C. Fratter, J. Koch, B. Kauffmann, C. Catarino, L.D. Schlieben, R. Kopajtich, V. Carelli, A.A. Sadun, R. Mcfarland, F. Fang, C. La Morgia, S. Paquay, M.C. Nassogne, D. Ghezzi, C. Lamperti, S. Wortmann, J. Poulton, T. Klopstock, H. Prokisch

مصطلحات موضوعية: Leber hereditary optic neuropathy (LHON), Leigh syndrome spectrum (LSS), digenic inheritance, mitochondrial complex I (CI), Settore MEDS-01/A - Genetica medica, Settore MEDS-12/A - Neurologia

Relation: info:eu-repo/semantics/altIdentifier/pmid/38478578; info:eu-repo/semantics/altIdentifier/wos/WOS:001227412700001; volume:147; issue:6; firstpage:1; lastpage:8; numberofpages:8; journal:BRAIN; https://hdl.handle.net/2434/1122303

الاتاحة: https://hdl.handle.net/2434/1122303
https://doi.org/10.1093/brain/awae057

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

المساهمون: Margiotti, Katia, Libotte, Francesco, Fabiani, Marco, Mesoraca, Alvaro, Giorlandino, Claudio

مصطلحات موضوعية: sex development, genetic, digenic origin

Relation: info:eu-repo/semantics/altIdentifier/pmid/38962685; info:eu-repo/semantics/altIdentifier/wos/WOS:001252750200001; volume:2024; firstpage:1; lastpage:5; numberofpages:5; journal:CASE REPORTS IN PEDIATRICS; https://hdl.handle.net/11573/1716366

الاتاحة: https://hdl.handle.net/11573/1716366
https://doi.org/10.1155/2024/4896940

المؤلفون: Yiting Liu, Jing Sun, Caiqi Zhang, Yi Wu, Siyuan Ma, Xuechun Li, Xiaoshan Wu, Qingping Gao

مصطلحات موضوعية: Genetics, Hypohidrotic ectodermal dysplasia, EDA, WNT10A, Digenic variations, Tooth agenesis, Development

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Compound_heterozygous_WNT10A_missense_variations_exacerbated_the_tooth_agenesis_caused_by_hypohidrotic_ectodermal_dysplasia/25097307

الاتاحة: https://doi.org/10.6084/m9.figshare.25097307.v1
https://figshare.com/articles/journal_contribution/Additional_file_1_of_Compound_heterozygous_WNT10A_missense_variations_exacerbated_the_tooth_agenesis_caused_by_hypohidrotic_ectodermal_dysplasia/25097307

المؤلفون: Constantina Koutsofti, Marios Ioannides, Christiana Polydorou, Gregory Papagregoriou, Apostolos Malatras, George Michael, Irene Hadjiioannou, Stylianos Pieri, Eleni M. Loizidou, Christos Eftychiou, Elias Papasavvas, Theodoros Christophides, Anna Alkelai, Manav Kapoor, Alan R. Shuldiner, Panayiotis Avraamides, Constantinos Deltas

المصدر: Genes, Vol 15, Iss 3, p 319 (2024)

مصطلحات موضوعية: cardiogenetics, inherited cardiomyopathies, massive parallel sequencing, digenic or oligogenic inheritance, incomplete penetrance, Genetics, QH426-470

Relation: https://www.mdpi.com/2073-4425/15/3/319; https://doaj.org/toc/2073-4425; https://doaj.org/article/0d2687a043ed47ed93007c724ea8e7d1

الاتاحة: https://doi.org/10.3390/genes15030319
https://doaj.org/article/0d2687a043ed47ed93007c724ea8e7d1

المؤلفون: Christiane M. Neuhofer, Holger Prokisch

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 9, p 4602 (2024)

مصطلحات موضوعية: digenic inheritance, mitochondrial disorders, molecular genetics, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/25/9/4602; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/7edfeecbe4a84d6e8801073255d6c37c

الاتاحة: https://doi.org/10.3390/ijms25094602
https://doaj.org/article/7edfeecbe4a84d6e8801073255d6c37c

المؤلفون: Maria Valeria Freire, Marie Martin, Karin Segers, Edith Sepulchre, Natacha Leroi, Jérôme Coupier, Hassan Rezaei Kalantari, Pascal Wolter, Joëlle Collignon, Marc Polus, Olivier Plomteux, Claire Josse, Vincent Bours

المصدر: Journal of Personalized Medicine, Vol 14, Iss 6, p 584 (2024)

مصطلحات موضوعية: digenic inheritance, double heterozygosity, familial cancer, BRCA1, BRCA2, ATM, Medicine

Relation: https://www.mdpi.com/2075-4426/14/6/584; https://doaj.org/toc/2075-4426; https://doaj.org/article/2b92d1efbd60450bae6227a950f0fe1b

الاتاحة: https://doi.org/10.3390/jpm14060584
https://doaj.org/article/2b92d1efbd60450bae6227a950f0fe1b

المؤلفون: Nikoletta Nagy, Margit Pal, Jozsef Kun, Bence Galik, Peter Urban, Marta Medvecz, Beata Fabos, Alexandra Neller, Aliasgari Abdolreza, Judit Danis, Viktoria Szabo, Zhuo Yang, Stefanie Fenske, Martin Biel, Attila Gyenesei, Eva Adam, Marta Szell

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 2, p 1271 (2024)

مصطلحات موضوعية: albinism, missing heritability, digenic inheritance, TPCN2 gene, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/25/2/1271; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/01eff102786e4eb6b1da578032054a00

الاتاحة: https://doi.org/10.3390/ijms25021271
https://doaj.org/article/01eff102786e4eb6b1da578032054a00

المؤلفون: Steen, Erica A, Hermiston, Michelle L, Nichols, Kim E, Meyer, Lauren K

مصطلحات موضوعية: Biomedical and Clinical Sciences, Immunology, Rare Diseases, Hematology, Aetiology, 2.1 Biological and endogenous factors, Animals, Cell Degranulation, Genetic Predisposition to Disease, Heredity, Humans, Killer Cells, Natural, Lymphohistiocytosis, Hemophagocytic, Multifactorial Inheritance, Mutation, Phenotype, Prognosis, Risk Factors, Secretory Vesicles, Signal Transduction, T-Lymphocytes, Cytotoxic, hemophagocytic lymphohistiocytosis, digenic, degranulation, variants, cytotoxic lymphocyte, natural killer cell, Medical Microbiology, Biochemistry and cell biology, Genetics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9933c674
https://escholarship.org/content/qt9933c674/qt9933c674.pdf

المؤلفون: YANG Yufan, WANG Xi, NIE Min, WU Xueyan, MAO Jiangfeng

المصدر: Jichu yixue yu linchuang, Vol 43, Iss 5, Pp 733-738 (2023)

مصطلحات موضوعية: congenital hypogonadotropic hypogonadism(chh), fibroblast growth factor receptor 1(fgfr1), digenic mutation, Medicine

وصف الملف: electronic resource

Relation: http://journal11.magtechjournal.com/Jwk_jcyxylc/fileup/1001-6325/PDF/1001-6325-2023-43-5-733.pdf; https://doaj.org/toc/1001-6325

URL الوصول: https://doaj.org/article/4b125e72c2ed4cccb1fa029dfbfc160e

المؤلفون: Hafsa Nomani, Zuoming Deng, Brianne Navetta-Modrov, Jie Yang, Mark Yun, Olga Aroniadis, Peter Gorevic, Ivona Aksentijevich, Qingping Yao

المصدر: Frontiers in Immunology, Vol 14 (2023)

مصطلحات موضوعية: Nod2, NLRP3, NLRP12, autoinflammatory, familial Mediterranean fever, digenic, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2023.1265404/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/da0e8f59ea254d9a8de9ea6476c7b0fa

المؤلفون: Vijay Gupta, Afif Ben-Mahmoud, Bonsu Ku, Dinesh Velayutham, Zainab Jan, Abdi Yousef Aden, Ahmad Kubbar, Fouad Alshaban, Lawrence W. Stanton, Puthen Veettil Jithesh, Lawrence C. Layman, Hyung-Goo Kim

المصدر: Frontiers in Psychiatry, Vol 14 (2023)

مصطلحات موضوعية: exome sequencing, autism, intellectual disability, digenic, TRPC4, SCFD2, Psychiatry, RC435-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fpsyt.2023.1251884/full; https://doaj.org/toc/1664-0640

URL الوصول: https://doaj.org/article/c16ac00a1bcd4c16a7757d6b44f8f09c

المؤلفون: Milstein, Michelle L, Cavanaugh, Breyanna L, Roussey, Nicole M, Volland, Stefanie, Williams, David S, Goldberg, Andrew FX

المصدر: Proceedings of the National Academy of Sciences of the United States of America. 117(8)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Biological Sciences, Neurosciences, Neurodegenerative, Eye Disease and Disorders of Vision, Animals, Humans, Peripherins, Retinal Cone Photoreceptor Cells, Retinal Rod Photoreceptor Cells, Rod Cell Outer Segment, Xenopus laevis, photoreceptor outer segment, membrane curvature, digenic retinitis pigmentosa, tetraspanin, cilium

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/32w3q2n6