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1دورية أكاديمية
المؤلفون: Sayyed Hesamedin Nabavizadeh, Rafat Noeiaghdam, Leila Johari, Seyed Ali Hosseini, Hossein Esmaeilzadeh, Soheila Sadat Alyasin
المصدر: Clinical Case Reports, Vol 10, Iss 11, Pp n/a-n/a (2022)
مصطلحات موضوعية: Allergy and immunology, Genetics, Pediatrics, SRD5A3‐CDG, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2050-0904Test
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2دورية أكاديمية
المؤلفون: Nazreen Kamarus Jaman, Preeya Rehsi, Robert H. Henderson, Ulrike Löbel, Kshitij Mankad, Stephanie Grunewald
المصدر: Frontiers in Genetics, Vol 12 (2021)
مصطلحات موضوعية: SRD5A3-CDG, steroid 5 alpha reductase deficiency, emerging phenotypic features, retinal dystrophy, congenital disorder of glycosylation, CDG, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.737094/fullTest; https://doaj.org/toc/1664-8021Test
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3دورية أكاديمية
المؤلفون: Yoldaş Çelik, Merve, Yazıcı, Havva, Erdem, Fehime, Yanbolu, Ayşe Yüksel, Aykut, Ayca, Durmaz, Asude, Zeybek, Selcan
مصطلحات موضوعية: B3GALNT2, CDG, DPAGT1, DPM1, POMT2, SRD5A3, O-Glycosylation, Mutations, Diagnosis, Hypoglycosylation, Management, Srd5a3-Cdg, Patient, Protein
العلاقة: Journal of Pediatric Endocrinology & Metabolism; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1515/jpem-2022-0641Test; https://hdl.handle.net/11454/82916Test; WOS:000970361400001; 2-s2.0-85153717870
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4
المؤلفون: Nazreen Kamarus Jaman (11774654), Preeya Rehsi (11774657), Robert H. Henderson (11774660), Ulrike Löbel (3325251), Kshitij Mankad (6749432), Stephanie Grunewald (1460986)
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, SRD5A3-CDG, steroid 5 alpha reductase deficiency, emerging phenotypic features, retinal dystrophy, congenital disorder of glycosylation, CDG
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5
المؤلفون: Nazreen Kamarus Jaman, Preeya Rehsi, Robert H. Henderson, Ulrike Löbel, Kshitij Mankad, Stephanie Grunewald
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, SRD5A3-CDG, steroid 5 alpha reductase deficiency, emerging phenotypic features, retinal dystrophy, congenital disorder of glycosylation, CDG
الإتاحة: https://doi.org/10.3389/fgene.2021.737094.s001Test
https://figshare.com/articles/dataset/DataSheet1_SRD5A3-CDG_Emerging_Phenotypic_Features_of_an_Ultrarare_CDG_Subtype_pdf/17103494Test -
6تقرير
مصطلحات موضوعية: SRD5A3, SRD5A3-CDG, CDG, Glycosylation defect
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7
المؤلفون: Jorieke E. H. Bergman, Vincent Cantagrel, Jeroen Schoots, Dirk J. Lefeber, Michèl A.A.P. Willemsen, Peter Bluemel, Christian Körner, Ron A. Wevers, Georg F. Hoffmann, Bobby G. Ng, Karin Huijben, Connie M. A. van Ravenswaaij-Arts, Maciej Adamowicz, Hans van Bokhoven, Dusica Babovic-Vuksanovic, Arjan P.M. de Brouwer, Arno van Rooij, Lihadh Al-Gazali, Jeroen van Reeuwijk, Eva Morava, Marjolein C. J. Jongmans, Ludwig Lehle, Jolanta Sykut-Cegielska, Lies H. Hoefsloot, Joseph G. Gleeson
المساهمون: Reproductive Origins of Adult Health and Disease (ROAHD)
المصدر: Brain, 133, 11, pp. 3210-20
Brain, 133, 3210-3220. Oxford University Press
Brain, 133, 3210-20مصطلحات موضوعية: Male, Pathology, Glycosylation, Polyprenol reductase, Genetics and epigenetic pathways of disease [NCMLS 6], Eye Diseases, Neuroinformatics [DCN 3], CHARGE syndrome, chemistry.chemical_compound, Dolichols, dolichol metabolism, Child, Cerebellar hypoplasia, JOUBERT-SYNDROME, SRD5A3-CDG, Homozygote, polyprenol reductase, Syndrome, Hypoplasia, CDG type Iq, cataract, CHARGE-SYNDROME, Child, Preschool, coloboma, Female, lipids (amino acids, peptides, and proteins), medicine.symptom, Functional Neurogenomics [DCN 2], medicine.medical_specialty, CONGENITAL DISORDERS, Biology, Joubert syndrome, Genomic disorders and inherited multi-system disorders [IGMD 3], Abnormal glycosylation, Dolichol, 3-Oxo-5-alpha-Steroid 4-Dehydrogenase, Cerebellar Diseases, Internal medicine, medicine, Humans, BIOSYNTHESIS, SPECTRUM, Cerebellar ataxia, MUTATIONS, vermis hypoplasia, Infant, Membrane Proteins, Original Articles, Glycostation disorders [IGMD 4], Lipid Metabolism, medicine.disease, GENE, carbohydrates (lipids), glaucoma, Endocrinology, chemistry, Mutation, SRD5A3, CDG, Neurology (clinical), AUTOSOMAL RECESSIVE SYNDROME, MENTAL-RETARDATION, congenital disorders of glycosylation, Microsatellite Repeats
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bea1dc7bce4c935f88e51dacb8481f2dTest
https://doi.org/10.1093/brain/awq261Test -
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المؤلفون: Aslıhan Tolun, Bülent Kara, Nurdan Başboğaoğlu, Gülden Gökçay, Özgecan Ayhan
المصدر: BMC Medical Genetics
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Case Report, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Congenital Disorders of Glycosylation, 3-Oxo-5-alpha-Steroid 4-Dehydrogenase, Glycosylation defect, Genetics, medicine, Humans, Genetics(clinical), Genetics (clinical), Mutation, SRD5A3-CDG, Siblings, Cytogenetics, Membrane Proteins, medicine.disease, Phenotype, Human genetics, Membrane protein, SRD5A3, Female, CDG, Congenital disorder of glycosylation
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::134f8648884ace0d2f7858c862b09dc7Test
https://hdl.handle.net/20.500.12684/2564Test -
9دورية أكاديمية
المؤلفون: Morava, Eva, Wevers, Ron A., Cantagrel, Vincent, Hoefsloot, Lies H., Al-Gazali, Lihadh, Schoots, Jeroen, van Rooij, Arno, Huijben, Karin, van Ravenswaaij-Arts, Connie M. A., Jongmans, Marjolein C. J., Sykut-Cegielska, Jolanta, Hoffmann, Georg F., Bluemel, Peter, Adamowicz, Maciej, van Reeuwijk, Jeroen, Ng, Bobby G., Bergman, Jorieke E. H., van Bokhoven, Hans, Koerner, Christian, Babovic-Vuksanovic, Dusica, Willemsen, Michel A., Gleeson, Joseph G., Lehle, Ludwig, de Brouwer, Arjan P. M., Lefeber, Dirk J.
المصدر: Morava , E , Wevers , R A , Cantagrel , V , Hoefsloot , L H , Al-Gazali , L , Schoots , J , van Rooij , A , Huijben , K , van Ravenswaaij-Arts , C M A , Jongmans , M C J , Sykut-Cegielska , J , Hoffmann , G F , Bluemel , P , Adamowicz , M , van Reeuwijk , J , Ng , B G , Bergman , J E H , van Bokhoven , H , Koerner , C , Babovic-Vuksanovic , D , Willemsen , M A , ....
مصطلحات موضوعية: congenital disorders of glycosylation, SRD5A3-CDG, CDG type Iq, glycosylation, dolichol metabolism, polyprenol reductase, SRD5A3, vermis hypoplasia, coloboma, cataract, glaucoma, AUTOSOMAL RECESSIVE SYNDROME, CONGENITAL DISORDERS, CHARGE-SYNDROME, MENTAL-RETARDATION, JOUBERT-SYNDROME, CDG, MUTATIONS, GENE, BIOSYNTHESIS, SPECTRUM
الإتاحة: https://doi.org/10.1093/brain/awq261Test
https://hdl.handle.net/11370/20d9c0de-8532-4d3a-b26c-a83513ba7624Test
https://research.rug.nl/en/publications/20d9c0de-8532-4d3a-b26c-a83513ba7624Test -
10دورية أكاديمية
المؤلفون: Kousal, B., Honzík, T., Hansíková, H., Ondrušková, N., Čechová, A., Tesařová, M., Stránecký, V., Meliška, M., Michaelides, M., Lišková, P.
مصطلحات موضوعية: retinal dystrophy, SRD5A3-CDG, SRD5A3, novel variant
جغرافية الموضوع: [134]-141
وصف الملف: média; svazek