المؤلفون: Xiaoqing Zhang, Wujun Jiang, Zhongqin Jin, Xueqian Wang, Xiaoxiang Song, Shan Huang, Min Zhang, Huigang Lu

المصدر: Frontiers in Oncology, Vol 13 (2023)

مصطلحات موضوعية: DCLRE1C, ARTEMIS, hypomorphic mutation, severe combined immunodeficiency, radiosensitive immunodeficiency, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fonc.2023.1282678/full; https://doaj.org/toc/2234-943X

URL الوصول: https://doaj.org/article/415d251f7bf1407982bfb8529b65751d

المؤلفون: A. V. Smirnov, T. A. Shnaider, A. N. Korablev, A. M. Yunusova, I. A. Serova, N. R. Battulin

المصدر: Вавиловский журнал генетики и селекции, Vol 25, Iss 3, Pp 331-336 (2021)

مصطلحات موضوعية: сasein, crispr, pronuclear microinjection, hypomorphic mutation, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://vavilov.elpub.ru/jour/article/view/3016; https://doaj.org/toc/2500-3259

URL الوصول: https://doaj.org/article/3b879f8529834efea99c0394821d4e55

المؤلفون: Muñoz-Pujol, Gerard, Alforja-Castiella, Socorro, Casaroli-Marano, Ricardo, Morales-Romero, Blai, García-Villoria, Judit, Yépez, Vicente A., Gagneur, Julien, Gusic, Mirjana, Prokisch, Holger, Tort, Frederic, Ribes, Antonia

مصطلحات موضوعية: info:eu-repo/classification/ddc, Article, macular oedema, retinal dystrophy, sensorineural hearing loss, myopathic facies, hypomorphic mutation, RNA-seq, very-long chain LPC

وصف الملف: application/pdf

Relation: https://mediatum.ub.tum.de/1693525; https://mediatum.ub.tum.de/doc/1693525/document.pdf

الاتاحة: https://mediatum.ub.tum.de/1693525
https://mediatum.ub.tum.de/doc/1693525/document.pdf
https://doi.org/10.3390/ijms232012367

المؤلفون: Elysha Kolitz, BA, Bahir Chamseddin, MD, Rosemary Son, PA-C, Travis Vandergriff, MD, Amy P. Hsu, BA, Steven Holland, MD, Richard C. Wang, MD, PhD

المصدر: JAAD Case Reports, Vol 7, Iss , Pp 33-35 (2021)

مصطلحات موضوعية: hypomorphic mutation, IKBKG, mycobacterial infection, NEMO, primary immunodeficiency, primary immunodeficiency without ectodermal dysplasia, Dermatology, RL1-803

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352512620307542; https://doaj.org/toc/2352-5126

URL الوصول: https://doaj.org/article/e1a77d802e804e06986a41d39a3eee3c

المؤلفون: Hoshino, Akihiro, Takashima, Takehiro, Yoshida, Kenichi, Morimoto, Akira, Kawahara, Yuta, Yeh, Tzu-Wen, Okano, Tsubasa, Yamashita, Motoi, Mitsuiki, Noriko, Imai, Kohsuke, Sakatani, Takashi, Nakazawa, Atsuko, Okuno, Yusuke, Shiraishi, Yuichi, Chiba, Kenichi, Tanaka, Hiroko, Miyano, Satoru, Ogawa, Seishi, Kojima, Seiji, Morio, Tomohiro, Kanegane, Hirokazu

المصدر: The Journal of Infectious Diseases, 2018 Sep 01. 218(5), 825-834.

URL الوصول: https://www.jstor.org/stable/26495832

المؤلفون: Yujuan Hou, Hans Peter Gratz, Guillermo Ureña-Bailén, Paul G. Gratz, Karin Schilbach-Stückle, Tina Renno, Derya Güngör, Daniel A. Mader, Elke Malenke, Justin S. Antony, Rupert Handgretinger, Markus Mezger

المصدر: Genes; Volume 13; Issue 1; Pages: 35

مصطلحات موضوعية: atypical X-SCID, immunodeficiency, IL-2RG, γ C, somatic reversion, hypomorphic mutation

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes13010035

الاتاحة: https://doi.org/10.3390/genes13010035

المؤلفون: Gudny A. Arnadottir, Brynjar O. Jensson, Sigurdur E. Marelsson, Gerald Sulem, Asmundur Oddsson, Ragnar P. Kristjansson, Stefania Benonisdottir, Sigurjon A. Gudjonsson, Gisli Masson, Gudmundur A. Thorisson, Jona Saemundsdottir, Olafur Th. Magnusson, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Asgeir Sigurdsson, Daniel F. Gudbjartsson, Unnur Thorsteinsdottir, Reynir Arngrimsson, Patrick Sulem, Kari Stefansson

المصدر: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-5 (2017)

مصطلحات موضوعية: Epileptic encephalopathy, UBA5, Hypomorphic mutation, Exonic splicing mutation, Ufmylation, Case report, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-017-0466-8; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/3ecb8fc5078b40faa4921489a2b36192

المؤلفون: Gerard Muñoz-Pujol, Socorro Alforja-Castiella, Ricardo Casaroli-Marano, Blai Morales-Romero, Judit García-Villoria, Vicente A. Yépez, Julien Gagneur, Mirjana Gusic, Holger Prokisch, Frederic Tort, Antonia Ribes

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 20; Pages: 12367
Int. J. Mol. Sci. 23:12367 (2022)

مصطلحات موضوعية: Trastorns del metabolisme, Hearing Loss, Sensorineural, Hypomorphic Mutation, Macular Oedema, Myopathic Facies, Pex1, Retinal Dystrophy, Rna-seq, Sensorineural Hearing Loss, Very-long Chain Lpc, Inborn errors of metabolism, Deafness, Catalysis, Inorganic Chemistry, Trastorns auditius, Malalties hereditàries, Peroxisomes, Edema, Humans, RNA-Seq, RNA, Messenger, Physical and Theoretical Chemistry, Zellweger Syndrome, Molecular Biology, Spectroscopy, Retrospective Studies, Organic Chemistry, Fatty Acids, Errors congènits del metabolisme, Membrane Proteins, macular oedema, retinal dystrophy, sensorineural hearing loss, myopathic facies, PEX1, hypomorphic mutation, RNA-seq, very-long chain LPC, General Medicine, Hearing disorders, ddc, Computer Science Applications, Ophthalmology, Disorders of metabolism, Oftalmologia, Article, ATPases Associated with Diverse Cellular Activities, Biomarkers, Genetic diseases

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a50c327ce84625dc6fd408aefeddfcf
https://pubmed.ncbi.nlm.nih.gov/36293220

المؤلفون: Tábata T. França, Luiz F. B. Leite, Tiago A. Maximo, Christiane G. Lambert, Nuria B. Zurro, Wilma C. N. Forte, Antonio Condino-Neto

المصدر: Frontiers in Pediatrics, Vol 6 (2018)

مصطلحات موضوعية: CD40 ligand, X-linked hyper-IgM syndrome, hypomorphic mutation, genetic defects, primary immunodeficiency, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/article/10.3389/fped.2018.00130/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/1edee64132e74b088e89050acb9aedbd

المؤلفون: Yujuan Hou, Hans Peter Gratz, Guillermo Ureña-Bailén, Paul G. Gratz, Karin Schilbach-Stückle, Tina Renno, Derya Güngör, Daniel A. Mader, Elke Malenke, Justin S. Antony, Rupert Handgretinger, Markus Mezger

المصدر: Genes, Vol 13, Iss 35, p 35 (2022)

مصطلحات موضوعية: atypical X-SCID, Genetics, hypomorphic mutation, somatic reversion, IL-2RG, QH426-470, immunodeficiency, γC

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doajarticles::bf9941b84e0ef1f1a485ae4de657f54a
https://www.mdpi.com/2073-4425/13/1/35

المؤلفون: T. A. Shnaider, Serova Ia, Nariman Battulin, Anastasia Yunusova, Alexander V. Smirnov, Alexey Korablev

المصدر: Vavilov Journal of Genetics and Breeding
Vavilovskij Žurnal Genetiki i Selekcii, Vol 25, Iss 3, Pp 331-336 (2021)

مصطلحات موضوعية: 0301 basic medicine, гипоморфные мутации, QH426-470, Biology, medicine.disease_cause, General Biochemistry, Genetics and Molecular Biology, Frameshift mutation, 03 medical and health sciences, Exon, 0302 clinical medicine, казеин, Gene expression, Genetics, medicine, Allele, Gene, Gene knockout, Mutation, pronuclear microinjection, сasein, пронуклеарная микроинъекция, 030104 developmental biology, Genetic marker, 030220 oncology & carcinogenesis, CRISPR, hypomorphic mutation, Original Article, General Agricultural and Biological Sciences

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca46d51eb264514307eb6945731da97f
http://europepmc.org/articles/PMC8627868

المؤلفون: Locatelli F.

المساهمون: Cifaldi, C., Rivalta, B., Amodio, D., Mattia, A., Pacillo, L., Di Cesare, S., Chiriaco, M., Ursu, G. M., Cotugno, N., Giancotta, C., Manno, E. C., Santilli, V., Zangari, P., Federica, G., Palumbo, G., Merli, P., Palma, P., Rossi, P., Di Matteo, G., Locatelli, Franco, Finocchi, A., Cancrini, C.

مصطلحات موضوعية: CID phenotypes, Cytopenia, Hypomorphic mutation, RAG deficiency, RAG1/RAG2, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA

Relation: info:eu-repo/semantics/altIdentifier/pmid/34664192; info:eu-repo/semantics/altIdentifier/wos/WOS:000708315400001; volume:42; issue:1; firstpage:130; lastpage:145; numberofpages:16; issueyear:2022; journal:JOURNAL OF CLINICAL IMMUNOLOGY; https://hdl.handle.net/10807/228443; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85117163294

الاتاحة: https://hdl.handle.net/10807/228443
https://doi.org/10.1007/s10875-021-01130-3

المؤلفون: Ge, Changhui, Stanley, Pamela

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2008 Feb 01. 105(5), 1539-1544.

URL الوصول: https://www.jstor.org/stable/25451318

المؤلفون: M. Cecilia D'Asdia, M. Cristina Digilio, Adrian Palencia-Campos, Bruno Marino, Victor L. Ruiz-Perez, Angela D'Anzi, Isabella Torrente, Jessica Rosati, Pablo Lapunzina, Francesca Piceci-Sparascio, Valentina Guida, Paolo Versacci, José A. Caparrós-Martín, Marco Tartaglia, Alessandro De Luca, Patricia Soto‐Bielicka, Silvana Briuglia

المساهمون: Ministerio de Economía y Competitividad (España), Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España)

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname

مصطلحات موضوعية: Adult, Male, media_common.quotation_subject, Nonsense, Atrioventricular canal defect, atrioventricular canal defect, Ellis-van Creveld syndrome, EVC, hypomorphic mutation, postaxial polydactyly, Weyers acrodental dysostosis, Biology, medicine.disease_cause, Compound heterozygosity, Fingers, Mice, 03 medical and health sciences, Postaxial polydactyly, Genotype, Genetics, medicine, Animals, Humans, Missense mutation, Family, Genetic Predisposition to Disease, Child, Hypomorphic mutation, Genetics (clinical), Ellis–van Creveld syndrome, 030304 developmental biology, media_common, 0303 health sciences, Mutation, Ellis‐van Creveld syndrome, Heart Septal Defects, 030305 genetics & heredity, Membrane Proteins, Toes, medicine.disease, Phenotype, Pedigree, Polydactyly, Child, Preschool, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6de32b0aef1776181bb0d1b78688295b
http://hdl.handle.net/10261/232086

المؤلفون: Mirjam evan der Burg, Menno C. van Zelm

المصدر: Frontiers in Immunology, Vol 5 (2014)

مصطلحات موضوعية: Severe Combined Immunodeficiency, T-cell, thymic epithelial cells, Omenn Syndrome, hypomorphic mutation, immune deregulation, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/Journal/10.3389/fimmu.2014.00111/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/cba46670b67a494eb8d87cc80c724a75

المؤلفون: Emma Concetta Manno, Donato Amodio, Galaverna Federica, Carmela Giancotta, Gigliola Di Matteo, Giuseppe Palumbo, Silvia Di Cesare, Andrea Finocchi, Beatrice Rivalta, Algeri Mattia, Pietro Merli, Lucia Pacillo, Paola Zangari, Nicola Cotugno, Franco Locatelli, Maria Chiriaco, Veronica Santilli, Giorgiana Madalina Ursu, Cristina Cifaldi, Paolo Palma, Caterina Cancrini, Paolo Rossi

المصدر: Journal of clinical immunology. 42(1)

مصطلحات موضوعية: medicine.medical_specialty, RAG deficiency, Immunology, medicine.disease_cause, Recombination-activating gene, Autoimmunity, Medical microbiology, RAG2, medicine, Immunology and Allergy, RAG1/RAG2, Humans, Hypomorphic mutation, Genetic Association Studies, Retrospective Studies, Homeodomain Proteins, Cytopenia, business.industry, Autoimmune Cytopenia, Immune dysregulation, medicine.disease, Settore MED/38, CID phenotypes, Phenotype, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Cohort, Mutation, Severe Combined Immunodeficiency, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0971c65e89d6a47c596f3b9968f69473
https://pubmed.ncbi.nlm.nih.gov/34664192

المؤلفون: Ward Coats

المصدر: The FASEB Journal. 35

مصطلحات موضوعية: Pancreatic aplasia, Heterotrimeric G protein, Genetics, Hypomorphic mutation, 3 d printing, Biology, Molecular Biology, Biochemistry, Biotechnology, Structure and function, Cell biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::37cbbb30797ffac70f46b9a5cdb814a8
https://doi.org/10.1096/fasebj.2021.35.s1.02734

المؤلفون: Roos, Dirk, van Buul, Jaap D., Tool, Anton TJ, Matute, Juan D., Marchal, Christophe M., Hayee, Bu’Hussain, Köker, M. Yavuz, de Boer, Martin, van Leeuwen, Karin, Segal, Anthony W., Pick, Edgar, Dinauer, Mary C.

المساهمون: Department of Pediatrics, IU School of Medicine

المصدر: PMC

مصطلحات موضوعية: Chronic granulomatous disease, NADPH oxidase, NCF2, hypomorphic mutation, p67phox, p67phox activation domain, p67phox translocation

وصف الملف: application/pdf

Relation: Journal of Clinical & Cellular Immunology; Roos, D., van Buul, J. D., Tool, A. T., Matute, J. D., Marchal, C. M., Hayee, B., … Dinauer, M. C. (2014). Two CGD Families with a Hypomorphic Mutation in the Activation Domain of p67phox. Journal of Clinical & Cellular Immunology, 5(3), 1000231.; https://hdl.handle.net/1805/10956

الاتاحة: https://hdl.handle.net/1805/10956

المؤلفون: Kenji Hirose, Yoshihiro Matsudate, Mariko Niki

المصدر: The Journal of Dermatology. 47

مصطلحات موضوعية: medicine.medical_specialty, Male patient, business.industry, IKBKG, medicine, Hypomorphic mutation, Dermatology, General Medicine, Incontinentia pigmenti, business, medicine.disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1f0faf4e60aa3647b7611fae27641c7f
https://doi.org/10.1111/1346-8138.15242

المؤلفون: Piceci-Sparascio F., Palencia-Campos A., Soto-Bielicka P., D'Anzi A., Guida V., Rosati J., Caparros-Martin J. A., Torrente I., D'Asdia M. C., Versacci P., Briuglia S., Lapunzina P., Tartaglia M., Marino B., Digilio M. C., Ruiz-Perez V. L., De Luca A.

المساهمون: Piceci-Sparascio, F., Palencia-Campos, A., Soto-Bielicka, P., D'Anzi, A., Guida, V., Rosati, J., Caparros-Martin, J. A., Torrente, I., D'Asdia, M. C., Versacci, P., Briuglia, S., Lapunzina, P., Tartaglia, M., Marino, B., Digilio, M. C., Ruiz-Perez, V. L., De Luca, A.

مصطلحات موضوعية: atrioventricular canal defect, Ellis-van Creveld syndrome, EVC, hypomorphic mutation, postaxial polydactyly, Weyers acrodental dysostosis

Relation: info:eu-repo/semantics/altIdentifier/pmid/32906221; info:eu-repo/semantics/altIdentifier/wos/WOS:000577581400001; volume:41; issue:12; firstpage:2087; lastpage:2093; numberofpages:7; journal:HUMAN MUTATION; http://hdl.handle.net/11573/1491566; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85092458649

الاتاحة: http://hdl.handle.net/11573/1491566
https://doi.org/10.1002/humu.24112