-
1
المؤلفون: Xia, Zhi Jie, Ng, Bobby G., Jennions, Elizabeth, Blomqvist, Maria, Sandqvist Wiklund, Anneli, Hedberg-Oldfors, Carola, Gonzalez, Carlos Rodriguez, Freeze, Hudson H., Ygberg, Sofia, Eklund, Erik A.
المصدر: JIMD Reports. 64(1):79-89
مصطلحات موضوعية: Brefeldin A, COG6, congenital disorders of, enamel hypoplasia, glycosylation, hypohidrosis, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Medical and Health Sciences, Basic Medicine, Medical Genetics
-
2دورية أكاديمية
المؤلفون: Zhi‐Jie Xia, Bobby G. Ng, Elizabeth Jennions, Maria Blomqvist, Anneli Sandqvist Wiklund, Carola Hedberg‐Oldfors, Carlos Rodriguez Gonzalez, Hudson H. Freeze, Sofia Ygberg, Erik A. Eklund
المصدر: JIMD Reports, Vol 64, Iss 1, Pp 79-89 (2023)
مصطلحات موضوعية: Brefeldin A, COG6, congenital disorders of, enamel hypoplasia, glycosylation, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
-
3دورية أكاديمية
المؤلفون: Katalin Komlosi, Selina Gläser, Julia Kopp, Alrun Hotz, Svenja Alter, Andreas D. Zimmer, Carmela Beger, Stefan Heinzel, Christoph Schmidt, Judith Fischer
المصدر: JIMD Reports, Vol 55, Iss 1, Pp 51-58 (2020)
مصطلحات موضوعية: CDG, COG6, genodermatoses, restrictive dermopathy, WES, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
-
4دورية أكاديمية
المؤلفون: Peiwei Zhao, Lei Zhang, Li Tan, Sukun Luo, Yufeng Huang, Hanming Peng, Jiangxia Cao, Xuelian He
المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 9, Pp n/a-n/a (2021)
مصطلحات موضوعية: abnormal liver function, COG6, congenital disorders of glycosylation, hypohidrosis, microcephaly, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
-
5
المؤلفون: Lara Cirnigliaro, Paolo Bianchi, Luisa Sturiale, Domenico Garozzo, Giovanna Mangili, Liesbeth Keldermans, Renata Rizzo, Gert Matthijs, Agata Fiumara, Jaak Jaeken, Rita Barone
مصطلحات موضوعية: Embryology, Glycosylation, combined N- and O-glycosylation defect, Health, Toxicology and Mutagenesis, Golgi Apparatus, congenital ano-rectal malformations, CONGENITAL DISORDERS, Toxicology, PATIENT, O-GLYCOSYLATION, Congenital Disorders of Glycosylation, Humans, SUBUNIT-6, TRAFFICKING, congenital disorder of glycosylation (CDG), MUTATION, Science & Technology, Vaginal Fistula, Infant, Newborn, N-GLYCOSYLATION, GENE, DEFICIENCY, Adaptor Proteins, Vesicular Transport, COG6, Pediatrics, Perinatology and Child Health, Female, OLIGOMERIC GOLGI-COMPLEX, corpus callosum dysgenesis, Life Sciences & Biomedicine, Developmental Biology
وصف الملف: Print-Electronic
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::774acb3fc2a20adbaa5a275b0e6e0108
http://hdl.handle.net/20.500.11769/519377 -
6
المؤلفون: Komlosi, Katalin, Gläser, Selina, Kopp, Julia, Hotz, Alrun, Alter, Svenja, Zimmer, Andreas D., Beger, Carmela, Heinzel, Stefan, Schmidt, Christoph, Fischer, Judith
المصدر: JIMD Reports, Vol 55, Iss 1, Pp 51-58 (2020)
JIMD Reportsمصطلحات موضوعية: genodermatoses, lcsh:Genetics, lcsh:RC648-665, lcsh:QH426-470, COG6, WES, Case Report, CDG, Case Reports, restrictive dermopathy, lcsh:Diseases of the endocrine glands. Clinical endocrinology
-
7
المؤلفون: Jiangxia Cao, Hanming Peng, Lei Zhang, Xuelian He, Sukun Luo, Yufeng Huang, Li Tan, Peiwei Zhao
المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 9, Pp n/a-n/a (2021)مصطلحات موضوعية: Heterozygote, Microcephaly, Dwarfism, Prenatal diagnosis, QH426-470, Bioinformatics, medicine.disease_cause, Genetic analysis, DNA sequencing, symbols.namesake, Congenital Disorders of Glycosylation, Prenatal Diagnosis, Genetics, medicine, Humans, hypohidrosis, Molecular Biology, Genetics (clinical), Sanger sequencing, Mutation, Genetic heterogeneity, business.industry, Liver Diseases, Conserved oligomeric Golgi complex, Infant, Original Articles, medicine.disease, Adaptor Proteins, Vesicular Transport, abnormal liver function, COG6, symbols, Original Article, Female, business
-
8دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
9دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
10دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.