المؤلفون: Zhuolin Wang, Ruiqin Zhao, Xiaoyun Jia, Xiaolei Li, Li Ma, Haiyan Fu

مصطلحات موضوعية: Cardiology, Respiratory Diseases, Emergency Medicine, Endocrinology, Geriatrics and Gerontology, Orthopaedics, Otorhinolaryngology, Psychiatry (incl. Psychotherapy), Surgery, Dentistry not elsewhere classified, Sports Medicine, Neurology and Neuromuscular Diseases, Nursing not elsewhere classified, Nutrition and Dietetics not elsewhere classified, Oncology and Carcinogenesis not elsewhere classified, Paediatrics, Pharmacology and Pharmaceutical Sciences not elsewhere classified, Aged Health Care, Health and Community Services, Public Health and Health Services not elsewhere classified, Psychology not elsewhere classified, Sociological Methodology and Research Methods, Glycogen storage disease type 1b, SLC37A4 gene, hypoglycemia, neutropenia, inflammatory bowel disease, genetic variant

العلاقة: https://figshare.com/articles/journal_contribution/sj-pdf-1-imr-10_1177_03000605231216633_-_Supplemental_material_for_Three_novel_SLC37A4_variants_in_glycogen_storage_disease_type_1b_and_a_literature_review/24804902Test

الإتاحة: https://doi.org/10.25384/sage.24804902.v1Test
https://figshare.com/articles/journal_contribution/sj-pdf-1-imr-10_1177_03000605231216633_-_Supplemental_material_for_Three_novel_SLC37A4_variants_in_glycogen_storage_disease_type_1b_and_a_literature_review/24804902Test

المؤلفون: Zhuolin Wang, Ruiqin Zhao, Xiaoyun Jia, Xiaolei Li, Li Ma, Haiyan Fu

مصطلحات موضوعية: Cardiology, Respiratory Diseases, Emergency Medicine, Endocrinology, Geriatrics and Gerontology, Orthopaedics, Otorhinolaryngology, Psychiatry (incl. Psychotherapy), Surgery, Dentistry not elsewhere classified, Sports Medicine, Neurology and Neuromuscular Diseases, Nursing not elsewhere classified, Nutrition and Dietetics not elsewhere classified, Oncology and Carcinogenesis not elsewhere classified, Paediatrics, Pharmacology and Pharmaceutical Sciences not elsewhere classified, Aged Health Care, Health and Community Services, Public Health and Health Services not elsewhere classified, Psychology not elsewhere classified, Sociological Methodology and Research Methods, Glycogen storage disease type 1b, SLC37A4 gene, hypoglycemia, neutropenia, inflammatory bowel disease, genetic variant

العلاقة: https://figshare.com/articles/journal_contribution/sj-pdf-2-imr-10_1177_03000605231216633_-_Supplemental_material_for_Three_novel_SLC37A4_variants_in_glycogen_storage_disease_type_1b_and_a_literature_review/24804905Test

الإتاحة: https://doi.org/10.25384/sage.24804905.v1Test
https://figshare.com/articles/journal_contribution/sj-pdf-2-imr-10_1177_03000605231216633_-_Supplemental_material_for_Three_novel_SLC37A4_variants_in_glycogen_storage_disease_type_1b_and_a_literature_review/24804905Test

المؤلفون: Yamei, Zhang, Huihui, Sun, Naijun, Wan

المصدر: The Journal of International Medical Research

مصطلحات موضوعية: Male, Heterozygote, Base Sequence, Monosaccharide Transport Proteins, Clinical Research Reports, Body Weight, DNA Mutational Analysis, Infant, Newborn, Glycogen Storage Disease Type I, compound heterozygote, Antiporters, SLC37A4 gene, glucose 6 phosphate transferase, Asian People, Glycogen storage disease-type I, Child, Preschool, Growth Hormone, Mutation, Humans, Female, Genetic Predisposition to Disease, gene mutation, Child

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::22b86056a9e693d26e47c1537a3b51e5Test
https://pubmed.ncbi.nlm.nih.gov/31617422Test

المؤلفون: Skakić, Anita

المساهمون: Stojiljković, Maja, Pavlović, Sonja, Brajušković, Goran, Radović, Svetlana

المصدر: Универзитет у Београду

مصطلحات موضوعية: Hepatične glikogenoze, gen SLC37A4, sekvenciranje nove generacije, genotip-fenotip korelacija, tehnologija CRISPR/Cas9, stres endoplazmatičnog retikuluma, apoptoza, Hepatic glycogenosis, SLC37A4 gene, Next Generation Sequencing, genotype- phenotype correlations, CRISPR/Cas9 technology, endoplasmic reticulum stress, apoptosis

وصف الملف: application/pdf

العلاقة: info:eu-repo/grantAgreement/MESTD/Integrated and Interdisciplinary Research (IIR or III)/41004/RS//; https://nardus.mpn.gov.rs/handle/123456789/11505Test; http://eteze.bg.ac.rs/application/showtheses?thesesId=6912Test; https://fedorabg.bg.ac.rs/fedora/get/o:20261/bdef:Content/downloadTest; http://vbs.rs/scripts/cobiss?command=DISPLAY&base=70036&RID=1025219250Test; https://nardus.mpn.gov.rs/bitstream/id/3475/IzvestajKomisije21107.pdfTest; https://nardus.mpn.gov.rs/bitstream/id/3474/Disertacija.pdfTest; http://nardus.mpn.gov.rs/bitstream/id/3474/Disertacija.pdfTest; http://nardus.mpn.gov.rs/bitstream/id/3475/IzvestajKomisije21107.pdfTest; https://hdl.handle.net/21.15107/rcub_nardus_11505Test

الإتاحة: https://nardus.mpn.gov.rs/handle/123456789/11505Test
http://eteze.bg.ac.rs/application/showtheses?thesesId=6912Test
https://fedorabg.bg.ac.rs/fedora/get/o:20261/bdef:Content/downloadTest
http://vbs.rs/scripts/cobiss?command=DISPLAY&base=70036&RID=1025219250Test
https://nardus.mpn.gov.rs/bitstream/id/3475/IzvestajKomisije21107.pdfTest
https://nardus.mpn.gov.rs/bitstream/id/3474/Disertacija.pdfTest
http://nardus.mpn.gov.rs/bitstream/id/3474/Disertacija.pdfTest
http://nardus.mpn.gov.rs/bitstream/id/3475/IzvestajKomisije21107.pdfTest
https://hdl.handle.net/21.15107/rcub_nardus_11505Test

المؤلفون: Skakić, Anita, Anđelković, Marina, Tošić, Nataša, Klaassen, Kristel, Đorđević, Maja, Pavlović, Sonja, Stojiljković, Maja

المصدر: Gene

مصطلحات موضوعية: Unfolded protein response, SLC37A4 gene, GSD Ib in vitro model system, ER-mediated apoptosis, ER stress, CRISPR/Cas9 gene knockin

العلاقة: info:eu-repo/grantAgreement/MESTD/Integrated and Interdisciplinary Research (IIR or III)/41004/RS//; https://imagine.imgge.bg.ac.rs/handle/123456789/1254Test; 2-s2.0-85063992028; 000469904800004

الإتاحة: https://doi.org/10.1016/jTest.gene.2019.04.002
https://imagine.imgge.bg.ac.rs/handle/123456789/1254Test

المؤلفون: Skakić, Anita

المساهمون: Stojiljković, Maja, Pavlović, Sonja, Brajušković, Goran, Radović, Svetlana

المصدر: Универзитет у Београду

مصطلحات موضوعية: stres endoplazmatičnog retikuluma, CRISPR/Cas9 technology, Hepatične glikogenoze, apoptosis, Next Generation Sequencing, sekvenciranje nove generacije, genotype- phenotype correlations, Hepatic glycogenosis, SLC37A4 gene, gen SLC37A4, endoplasmic reticulum stress, genotip-fenotip korelacija, apoptoza, tehnologija CRISPR/Cas9

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dae322e81bb0f346974762d7154d86bTest

المؤلفون: Skakić, Anita

المساهمون: Stojiljković, Maja, Pavlović, Sonja, Brajušković, Goran, Radović, Svetlana

مصطلحات موضوعية: tehnologija CRISPR/Cas9, stres endoplazmatičnog retikuluma, sekvenciranje nove generacije, Hepatične glikogenoze, genotip-fenotip korelacija, gen SLC37A4, apoptoza, SLC37A4 gene, Next Generation Sequencing, Hepatic glycogenosis, genotype- phenotype correlations, endoplasmic reticulum stress, CRISPR/Cas9 technology, apoptosis

العلاقة: info:eu-repo/grantAgreement/MESTD/Integrated and Interdisciplinary Research (IIR or III)/41004/RS//; https://nardus.mpn.gov.rs/handle/123456789/11505Test; http://eteze.bg.ac.rs/application/showtheses?thesesId=6912Test; https://fedorabg.bg.ac.rs/fedora/get/o:20261/bdef:Content/downloadTest; http://vbs.rs/scripts/cobiss?command=DISPLAY&base=70036&RID=1025219250Test; https://imagine.imgge.bg.ac.rs/handle/123456789/56Test; https://imagine.imgge.bg.ac.rs/bitstream/id/488/53.pdfTest; https://hdl.handle.net/21.15107/rcub_nardus_11505Test

الإتاحة: https://nardus.mpn.gov.rs/handle/123456789/11505Test
https://imagine.imgge.bg.ac.rs/handle/123456789/56Test
http://eteze.bg.ac.rs/application/showtheses?thesesId=6912Test
https://fedorabg.bg.ac.rs/fedora/get/o:20261/bdef:Content/downloadTest
http://vbs.rs/scripts/cobiss?command=DISPLAY&base=70036&RID=1025219250Test
https://imagine.imgge.bg.ac.rs/bitstream/id/488/53.pdfTest
https://hdl.handle.net/21.15107/rcub_nardus_11505Test

المؤلفون: Chang-Seok Ki, Soo-Youn Lee, Sung-Hee Han, Kyung Hee Lee, Ji Eun Lee, Jong-Won Kim, Byong Kwan Son, Yon-Ho Choe, Young Jin Hong

المصدر: Journal of Korean Medical Science

مصطلحات موضوعية: medicine.medical_specialty, Monosaccharide Transport Proteins, DNA Mutational Analysis, Mutation, Missense, Case Report, Glycogen Storage Disease Type I, Biology, Compound heterozygosity, Short stature, Antiporters, Glucose-6-phosphate translocase, Internal medicine, medicine, Humans, Translocase, Glycogen storage disease, Missense mutation, SLC37A4 Gene, GSD-1b, Genetics, Korea, Glycogen Storage Disease Type 1, Base Sequence, Phosphotransferases, DNA, General Medicine, Glycogen Storage Disease, medicine.disease, Endocrinology, Genes, Mutation, Mutation (genetic algorithm), Mutation testing, biology.protein, medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72b63a4ce0570114c77737791f6e00faTest
https://doi.org/10.3346/jkms.2005.20.3.499Test

المصدر: Gene

مصطلحات الفهرس: Unfolded protein response, SLC37A4 gene, GSD Ib in vitro model system, ER-mediated apoptosis, ER stress, CRISPR/Cas9 gene knockin, article

URL: https://imagine.imgge.bg.ac.rs/handle/123456789/1254Test
info:eu-repo/grantAgreement/MESTD/Integrated and Interdisciplinary Research (IIR or III)/41004/RS

المصدر: Универзитет у Београду

مصطلحات الفهرس: Hepatične glikogenoze, gen SLC37A4, sekvenciranje nove generacije, genotip-fenotip korelacija, tehnologija CRISPR/Cas9, stres endoplazmatičnog retikuluma, apoptoza, Hepatic glycogenosis, SLC37A4 gene, Next Generation Sequencing, genotype- phenotype correlations, CRISPR/Cas9 technology, endoplasmic reticulum stress, apoptosis, doctoralThesis

URL: http://nardus.mpn.gov.rs/handle/123456789/11505Test
http://eteze.bg.ac.rs/application/showtheses?thesesId=6912Test
http://vbs.rs/scripts/cobiss?command=DISPLAY&base=70036&RID=1025219250Test
http://nardus.mpn.gov.rs/bitstream/id/3474/Disertacija.pdfTest
http://nardus.mpn.gov.rs/bitstream/id/3475/IzvestajKomisije21107.pdfTest
info:eu-repo/grantAgreement/MESTD/Integrated and Interdisciplinary Research (IIR or III)/41004/RS