المؤلفون: Ami Patel, Ruifeng Cui, James Vernon Odom, Monique Leys

المصدر: Journal of Clinical Medicine, Vol 12, Iss 24, p 7549 (2023)

مصطلحات موضوعية: POMGNT1, non-syndromic retinitis pigmentosa, hypomorphic variant, phenotype variability, Medicine

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2077-0383/12/24/7549Test; https://doaj.org/toc/2077-0383Test

الوصول الحر: https://doaj.org/article/d3469d99c9f546b39660a88c21a8f37dTest

المؤلفون: Jing Liu, Zhongjie Wang, Huiming Yan, Yanling Teng, Qingxin Shi, Jing Chen, Wanglan Tang, Wenxian Yu, Ying Peng, Hui Xi, Na Ma, Desheng Liang, Zhuo Li, Lingqian Wu

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: ASS1, Citrullinemia type I, urea cycle disorder, hypomorphic variant, enzyme activity, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1172947/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/c4881218ab86465ebb06c5c978dfca83Test

المؤلفون: Tritto, Viviana, Capitanio, Daniele, Gelfi, Cecilia, Riva, Paola

المساهمون: V. Tritto, D. Capitanio, C. Gelfi, P. Riva

مصطلحات موضوعية: Noonan syndrome, RAS pathway gene, additive effect, hypomorphic variant, phosphoproteome, proteome, Settore BIO/13 - Biologia Applicata

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36835447; info:eu-repo/semantics/altIdentifier/wos/WOS:000939062300001; volume:24; issue:4; firstpage:1; lastpage:14; numberofpages:14; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/2434/956779Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85149003501

الإتاحة: https://doi.org/10.3390/ijms24044035Test
https://hdl.handle.net/2434/956779Test

المؤلفون: Ambrosini E., Montanari F., Cristalli C. P., Capelli I., La Scola C., Pasini A., Graziano C.

المساهمون: Ambrosini E., Montanari F., Cristalli C.P., Capelli I., La Scola C., Pasini A., Graziano C.

مصطلحات موضوعية: ADPKD, biallelic inheritance, disease modifier, hypomorphic variant, PKD1, PKD2

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37372410; info:eu-repo/semantics/altIdentifier/wos/WOS:001014949300001; volume:14; issue:6; firstpage:1; lastpage:13; numberofpages:13; journal:GENES; https://hdl.handle.net/11585/963527Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85163847703; https://www.mdpi.com/2073-4425/14/6/1230Test

الإتاحة: https://doi.org/10.3390/genes14061230Test
https://hdl.handle.net/11585/963527Test
https://www.mdpi.com/2073-4425/14/6/1230Test

المؤلفون: Segovia-Falquina, Cristina, Vilas, Alicia, Leal, Fátima, del Caño-Ochoa, Francisco, Kirk, Edwin P., Ugarte, Magdalena, Ramón-Maiques, Santiago, Gámez, Alejandra, Pérez, Belén

المساهمون: Instituto de Salud Carlos III, Comunidad de Madrid, Fundación Isabel Gemio, Fundación Ramón Areces, Australian Government, Medical Research Future Fund, Ramon-Maiques, Santiago, del Caño-Ochoa, Francisco

مصطلحات موضوعية: PCs, PMM2, PMM2-CDG, Conformational disease, Destabilizing, Hypomorphic variant

العلاقة: Publisher's version; https://dx.doi.org/10.1002/humu.24431Test; Sí; Human Mutation 43(10):1430-1442 (2022); http://hdl.handle.net/10261/278526Test; http://dx.doi.org/10.13039/501100004587Test; http://dx.doi.org/10.13039/100012818Test; http://dx.doi.org/10.13039/100008054Test

الإتاحة: https://doi.org/10.1002/humu.24431Test
https://doi.org/10.13039/501100004587Test
https://doi.org/10.13039/100012818Test
https://doi.org/10.13039/100008054Test
http://hdl.handle.net/10261/278526Test

المؤلفون: Elisa Gelli, Chiara Fallerini, Floriana Valentino, Annarita Giliberti, Francesca Castiglione, Lucrezia Laschi, Maria Palmieri, Alessandra Fabbiani, Rossella Tita, Maria Antonietta Mencarelli, Alessandra Renieri, Francesca Ariani

المصدر: Frontiers in Oncology, Vol 10 (2020)

مصطلحات موضوعية: RB1, hypomorphic variant, yolk sac tumor, ovarian cancer, tumor predisposition, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/article/10.3389/fonc.2020.01467/fullTest; https://doaj.org/toc/2234-943XTest

الوصول الحر: https://doaj.org/article/ab8071862f3f4abea3bd9315f27bb884Test

المؤلفون: Magdalena Mroczek, Inna Inashkina, Janis Stavusis, Pawel Zayakin, Andrey Khrunin, Ieva Micule, Victorija Kenina, Anna Zdanovica, Jana Zídková, Lenka Fajkusová, Svetlana Limborska, Anneke J. van der Kooi, Esther Brusse, Lea Leonardis, Ales Maver, Sander Pajusalu, Katrin Õunap, Sanna Puusepp, Paula Dobosz, Mateusz Sypniewski, Birute Burnyte, Baiba Lace

المساهمون: Neurology, ANS - Neuroinfection & -inflammation, EURO-NMD

المصدر: Human mutation, 43(10), 1347-1353. Wiley-Liss Inc.
Human Mutation, 43(10), 1347-1353. Wiley-Liss Inc.

مصطلحات موضوعية: Muscular Dystrophies, Limb-Girdle, CAPN3, Calpain, RNA Splicing, Mutation, Genetics, Humans, Muscle Proteins, LGMD R1 calpain 3-related, hypomorphic variant, Genetics (clinical), LGMD, calpainopathy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6473aff6ee811641d344ebecedcea42cTest
http://www.scopus.com/inward/record.url?scp=85132317495&partnerID=8YFLogxKTest

المؤلفون: Gelli E., Fallerini C., Valentino F., Giliberti A., Castiglione F., Laschi L., Palmieri M., Fabbiani A., Tita R., Mencarelli M. A., Renieri A., Ariani F.

المساهمون: Gelli, E., Fallerini, C., Valentino, F., Giliberti, A., Castiglione, F., Laschi, L., Palmieri, M., Fabbiani, A., Tita, R., Mencarelli, M. A., Renieri, A., Ariani, F.

مصطلحات موضوعية: hypomorphic variant, ovarian cancer, RB1, tumor predisposition, yolk sac tumor

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32974172; info:eu-repo/semantics/altIdentifier/wos/WOS:000569553600001; volume:10; firstpage:1; lastpage:6; numberofpages:6; journal:FRONTIERS IN ONCOLOGY; http://hdl.handle.net/11365/1126020Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85090284603; https://www.frontiersin.org/articles/10.3389/fonc.2020.01467/full#supplementary-materialTest

الإتاحة: https://doi.org/10.3389/fonc.2020.01467Test
http://hdl.handle.net/11365/1126020Test

المؤلفون: Mayra B. Dorna, Pamela F. A. Barbosa, Andréia Rangel-Santos, Krisztian Csomos, Boglarka Ujhazi, Joseph F. Dasso, Daniel Thwaites, Joan Boyes, Sinisa Savic, Jolan E. Walter

المصدر: Frontiers in Pediatrics, Vol 7 (2019)

مصطلحات موضوعية: RAG deficiency, RAG2, combined immunodeficiency, primary immunodeficiency, hypomorphic variant, compound heterozygous variant, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/article/10.3389/fped.2019.00122/fullTest; https://doaj.org/toc/2296-2360Test

الوصول الحر: https://doaj.org/article/12842030496146b193b8907a9cb895acTest

المؤلفون: Jing Liu, Zhongjie Wang, Huiming Yan, Yanling Teng, Qingxin Shi, Jing Chen, Wanglan Tang, Wenxian Yu, Ying Peng, Hui Xi, Na Ma, Desheng Liang, Zhuo Li, Lingqian Wu

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, ASS1, Citrullinemia type I, urea cycle disorder, hypomorphic variant, enzyme activity

العلاقة: https://figshare.com/articles/dataset/Table1_Functional_identification_of_two_novel_variants_and_a_hypomorphic_variant_in_ASS1_from_patients_with_Citrullinemia_type_I_DOCX/23640444Test

الإتاحة: https://doi.org/10.3389/fgene.2023.1172947.s001Test
https://figshare.com/articles/dataset/Table1_Functional_identification_of_two_novel_variants_and_a_hypomorphic_variant_in_ASS1_from_patients_with_Citrullinemia_type_I_DOCX/23640444Test