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1دورية أكاديمية
المؤلفون: Lijie Li, Cuihua Liu, Ming Tian, Guangbo Li, Jitong Li
المصدر: BMC Pediatrics, Vol 23, Iss 1, Pp 1-6 (2023)
مصطلحات موضوعية: WDR35, Cranioectodermal dysplasia, Ciliopathy, Ectopic testis, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1471-2431Test
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2دورية أكاديمية
المؤلفون: Joanna Walczak-Sztulpa, Anna Wawrocka, Łukasz Kuszel, Paulina Pietras, Marta Leśniczak-Staszak, Mirosław Andrusiewicz, Maciej R. Krawczyński, Anna Latos-Bieleńska, Marta Pawlak, Ryszard Grenda, Anna Materna-Kiryluk, Machteld M. Oud, Witold Szaflarski
المصدر: Frontiers in Molecular Biosciences, Vol 10 (2023)
مصطلحات موضوعية: cranioectodermal dysplasia, CED, ciliopathy, second-stage renal disease, hURECs, WDR35, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fmolb.2023.1285790/fullTest; https://doaj.org/toc/2296-889XTest
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3
المؤلفون: Hammarsjö, A., Pettersson, M., Chitayat, D., Handa, A., Anderlid, B. -M, Bartocci, M., Basel, D., Batkovskyte, D., Beleza-Meireles, A., Conner, P., Eisfeldt, J., Girisha, K. M., Chung, B. H. -Y, Horemuzova, E., Hyodo, H., Korņejeva, L., Lagerstedt-Robinson, K., Lin, A. E., Magnusson, M., Moosa, S., Nayak, S. S., Nilsson, D., Ohashi, H., Ohashi-Fukuda, N., Stranneheim, H., Taylan, F., Traberg, R., Voss, U., Wirta, Valtteri, Nordgren, A., Nishimura, G., Lindstrand, A., Grigelioniene, G.
المصدر: Journal of Human Genetics. 66(10):995-1008
مصطلحات موضوعية: c2cd3 protein, complementary DNA, dync2h1 protein, evc protein, evc2 protein, genomic DNA, ift74 protein, kiaa0753 protein, protein, ttc21b protein, unclassified drug, wdr19 protein, C2cd3 protein, human, cytoplasmic dynein, cytoskeleton protein, DYNC2H1 protein, EVC protein, EVC2 protein, isoprotein, KIAA0753 protein, membrane protein, microtubule associated protein, signal peptide, TTC21B protein, WDR19 protein, adolescent, adult, amino terminal sequence, Article, asphyxiating thoracic dystrophy, blood sampling, child, chondrodysplasia, chromosome 1q, chromosome 1q24q25, ciliopathy, clinical article, clinical feature, cohort analysis, comparative genomic hybridization, computer model, controlled study, copy number variation, cranioectodermal dysplasia, developmental delay, diagnostic value, DNA extraction, DNA sequencing, DNA splicing, Ellis van Creveld syndrome, exon, female, fetus, fetus lung, gene deletion, gene expression, gene sequence, genetic screening, human tissue, infant, Joubert syndrome, lung parenchyma, male, molecular diagnosis, nephronophthisis, newborn, pedigree, phenotype, preschool child, retrospective study, RNA analysis, school child, short rib polydactyly syndrome type 3, single nucleotide polymorphism, skeleton malformation, transcription initiation site, whole exome sequencing, whole genome sequencing, aged, bone dysplasia, genetic predisposition, genetics, high throughput sequencing, human genome, metabolism, middle aged, pathology, skeletal muscle, Bone Diseases, Developmental, Ciliopathies, Cytoplasmic Dyneins, Cytoskeletal Proteins, Genetic Predisposition to Disease, Genome, Human, High-Throughput Nucleotide Sequencing, Humans, Intercellular Signaling Peptides and Proteins, Intracellular Signaling Peptides and Proteins, Membrane Proteins, Microtubule-Associated Proteins, Muscle, Skeletal, Protein Isoforms
وصف الملف: print
الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-309162Test
https://doi.org/10.1038/s10038-021-00925-xTest -
4دورية أكاديمية
المؤلفون: Kaynar K, Kayıpmaz S, Çebi AH, Hüseynova Ş
المصدر: Balkan Journal of Medical Genetics, Vol 24, Iss 2, Pp 83-87 (2022)
مصطلحات موضوعية: ciliopathies, cranioectodermal dysplasia (ced), cystic, kidney diseases, syndrome, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1311-0160Test
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5دورية أكاديمية
المؤلفون: Margarita Sharova, Tatyana Markova, Maria Sumina, Marina Petukhova, Maria Bulakh, Oxana Ryzhkova, Tatyana Nagornova, Sofya Ionova, Andrey Marakhonov, Elena Dadali, Sergey Kutsev
المصدر: Genes; Volume 14; Issue 8; Pages: 1553
مصطلحات موضوعية: IFT140, cranioectodermal dysplasia, ciliopathy, thoracic dysplasia with short ribs
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Genetic Diagnosis; https://dx.doi.org/10.3390/genes14081553Test
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6دورية أكاديمية
المؤلفون: Joanna Ryżko, Joanna Walczak-Sztulpa, Piotr Czubkowski, Anna Latos-Bieleńska, Adam Kowalski, Marek Stefanowicz, Wioletta Jarmużek, Ryszard Grenda, Joanna Pawłowska
المصدر: Frontiers in Pediatrics, Vol 10 (2022)
مصطلحات موضوعية: ciliopathy, Sensenbrenner syndrome (cranioectodermal dysplasia), renal failure, liver disease, kidney and liver transplantation, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2022.834064/fullTest; https://doaj.org/toc/2296-2360Test
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7دورية أكاديمية
المؤلفون: Joanna Walczak-Sztulpa, Renata Posmyk, Ewelina M. Bukowska-Olech, Anna Wawrocka, Aleksander Jamsheer, Machteld M. Oud, Miriam Schmidts, Heleen H. Arts, Anna Latos-Bielenska, Anna Wasilewska
المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
مصطلحات موضوعية: Sensenbrenner syndrome, Cranioectodermal dysplasia, IFT140, Ciliopathy, End-stage renal disease, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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8
المؤلفون: Joanna Walczak-Sztulpa, Anna Wawrocka, Łukasz Kuszel, Paulina Pietras, Marta Leśniczak-Staszak, Mirosław Andrusiewicz, Maciej R. Krawczyński, Anna Latos-Bieleńska, Marta Pawlak, Ryszard Grenda, Anna Materna-Kiryluk, Machteld M. Oud, Witold Szaflarski
مصطلحات موضوعية: Biochemistry, Molecular Biology, Structural Biology, Enzymes, Protein Trafficking, Proteomics and Intermolecular Interactions (excl. Medical Proteomics), Receptors and Membrane Biology, Signal Transduction, Structural Biology (incl. Macromolecular Modelling), Synthetic Biology, cranioectodermal dysplasia, CED, ciliopathy, second-stage renal disease, hURECs, WDR35
الإتاحة: https://doi.org/10.3389/fmolb.2023.1285790.s003Test
https://figshare.com/articles/dataset/Table1_Ciliary_phenotyping_in_renal_epithelial_cells_in_a_cranioectodermal_dysplasia_patient_with_WDR35_variants_DOCX/24791943Test -
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المؤلفون: Joanna Walczak-Sztulpa, Anna Wawrocka, Łukasz Kuszel, Paulina Pietras, Marta Leśniczak-Staszak, Mirosław Andrusiewicz, Maciej R. Krawczyński, Anna Latos-Bieleńska, Marta Pawlak, Ryszard Grenda, Anna Materna-Kiryluk, Machteld M. Oud, Witold Szaflarski
مصطلحات موضوعية: Biochemistry, Molecular Biology, Structural Biology, Enzymes, Protein Trafficking, Proteomics and Intermolecular Interactions (excl. Medical Proteomics), Receptors and Membrane Biology, Signal Transduction, Structural Biology (incl. Macromolecular Modelling), Synthetic Biology, cranioectodermal dysplasia, CED, ciliopathy, second-stage renal disease, hURECs, WDR35
الإتاحة: https://doi.org/10.3389/fmolb.2023.1285790.s001Test
https://figshare.com/articles/dataset/DataSheet1_Ciliary_phenotyping_in_renal_epithelial_cells_in_a_cranioectodermal_dysplasia_patient_with_WDR35_variants_PDF/24791937Test -
10صورة
المؤلفون: Joanna Walczak-Sztulpa, Anna Wawrocka, Łukasz Kuszel, Paulina Pietras, Marta Leśniczak-Staszak, Mirosław Andrusiewicz, Maciej R. Krawczyński, Anna Latos-Bieleńska, Marta Pawlak, Ryszard Grenda, Anna Materna-Kiryluk, Machteld M. Oud, Witold Szaflarski
مصطلحات موضوعية: Biochemistry, Molecular Biology, Structural Biology, Enzymes, Protein Trafficking, Proteomics and Intermolecular Interactions (excl. Medical Proteomics), Receptors and Membrane Biology, Signal Transduction, Structural Biology (incl. Macromolecular Modelling), Synthetic Biology, cranioectodermal dysplasia, CED, ciliopathy, second-stage renal disease, hURECs, WDR35
الإتاحة: https://doi.org/10.3389/fmolb.2023.1285790.s002Test
https://figshare.com/articles/figure/Image1_Ciliary_phenotyping_in_renal_epithelial_cells_in_a_cranioectodermal_dysplasia_patient_with_WDR35_variants_TIF/24791940Test