نتائج البحث - "Machteld M Oud"

المصدر: Undiagnosed Diseases Network 2023, ' Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis ', American journal of human genetics, vol. 110, no. 4, pp. 663-680 . https://doi.org/10.1016/j.ajhg.2023.03.001
American Journal of Human Genetics, 110, 4, pp. 663-680
American Journal of Human Genetics, 110, 663-680

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53ebb038cfccf9dc91ccbedf3135671c
https://hdl.handle.net/2066/291882

5

Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA

المؤلفون: Ronald van Beek, Dorien Lugtenberg, Cenna Doornbos, Machteld M. Oud, Ronald Roepman, Lisenka E.L.M. Vissers, Peter H.M. Klaren, Ernie M.H.F. Bongers

المصدر: European Journal of Human Genetics
European Journal of Human Genetics, 29, 1677-1689
European Journal of Human Genetics, 29, pp. 1677-1689

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Diseases, Biology, Immunofluorescence, Sensitivity and Specificity, Ciliopathies, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Article, Genetic Heterogeneity, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Intraflagellar transport, Ciliogenesis, Genetics research, Genetics, medicine, Humans, Cilia, Genetic Testing, Ciliary tip, Cells, Cultured, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Genetic counselling, medicine.diagnostic_test, Cilium, 030305 genetics & heredity, High-throughput screening, Translational research, Fibroblasts, medicine.disease, Phenotype, High-Throughput Screening Assays, Ciliopathy, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Organismal Animal Physiology, sense organs

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29d362f077bfea4b9a7e0f8473022c2b
https://doi.org/10.1038/s41431-021-00907-9

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6

Identical

المؤلفون: Joanna, Walczak-Sztulpa, Anna, Wawrocka, Cenna, Doornbos, Ronald, van Beek, Anna, Sowińska-Seidler, Aleksander, Jamsheer, Ewelina, Bukowska-Olech, Anna, Latos-Bieleńska, Ryszard, Grenda, Ernie M H F, Bongers, Miriam, Schmidts, Ewa, Obersztyn, Maciej R, Krawczyński, Machteld M, Oud

المصدر: Frontiers in genetics. 13

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::3e68082aacf038418306d3958dd84b6e
https://pubmed.ncbi.nlm.nih.gov/35873489

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Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes-Challenges for the Accurate Diagnosis

المؤلفون: Joanna Walczak-Sztulpa, Anna Wawrocka, Cenna Doornbos, Ronald van Beek, Anna Sowińska-Seidler, Aleksander Jamsheer, Ewelina Bukowska-Olech, Anna Latos-Bieleńska, Ryszard Grenda, Ernie M. H. F. Bongers, Miriam Schmidts, Ewa Obersztyn, Maciej R. Krawczyński, Machteld M. Oud

المصدر: Frontiers in Genetics, 13

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Genetics, Molecular Medicine, Genetics (clinical)

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c00f78631c91ce69911c8864b8fe8dec
https://repository.ubn.ru.nl/handle/2066/253157

8

How to proceed after 'negative' exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques

المصدر: Journal of Inherited Metabolic Disease, 45, 663-681
Wortmann, S B, Oud, M M, Alders, M, Coene, K L M, van der Crabben, S N, Feichtinger, R G, Garanto, A, Hoischen, A, Langeveld, M, Lefeber, D, Mayr, J A, Ockeloen, C W, Prokisch, H, Rodenburg, R, Waterham, H R, Wevers, R A, van de Warrenburg, B P C, Willemsen, M A A P, Wolf, N I, Vissers, L E L M & van Karnebeek, C D M 2022, ' How to proceed after “negative” exome : A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques ', Journal of Inherited Metabolic Disease, vol. 45, no. 4, pp. 663-681 . https://doi.org/10.1002/jimd.12507
Journal of Inherited Metabolic Disease, 45, 4, pp. 663-681

مصطلحات موضوعية: Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], treatment, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Genomics, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], DNA, Mitochondrial, genome sequencing, Phenotype, diagnostic yield, Genetics, Exome, Genetic Testing, exome-negative, inborn metabolic disease, exome sequencing, Genetics (clinical)

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f04ad9e023cdaf1de34da0124a754537
https://doi.org/10.1002/jimd.12507

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9

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

المؤلفون: Ewelina Bukowska-Olech, Aleksander Jamsheer, Machteld M. Oud, Anna Wasilewska, Heleen H. Arts, Anna Wawrocka, Anna Latos-Bielenska, Joanna Walczak-Sztulpa, Renata Posmyk, Miriam Schmidts

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Orphanet Journal of Rare Diseases, 15
Orphanet Journal of Rare Diseases, 15, 1
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Male, Sensenbrenner syndrome, Ciliopathy, lcsh:Medicine, Gene mutation, Compound heterozygosity, Bioinformatics, Bone and Bones, End stage renal disease, Cranioectodermal dysplasia, Craniosynostoses, 03 medical and health sciences, End-stage renal disease, All institutes and research themes of the Radboud University Medical Center, Ectodermal Dysplasia, IFT140, medicine, Humans, Pharmacology (medical), Genetics (clinical), Exome sequencing, 030304 developmental biology, 0303 health sciences, business.industry, Genetic heterogeneity, Research, 030305 genetics & heredity, lcsh:R, General Medicine, medicine.disease, Cilium assembly, 3. Good health, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Child, Preschool, Mutation, Kidney Failure, Chronic, Poland, Carrier Proteins, business, Cranioectodermal Dysplasia

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96030fa26cd1c1227e617086f7fd3562
https://doaj.org/article/3a057c1244e44416b324608e85beb311

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10

NANS-CDG:Delineation of the Genetic, Biochemical, and Clinical Spectrum

المساهمون: Paediatric Metabolic Diseases, APH - Personalized Medicine

المصدر: den Hollander, B, Rasing, A, Post, M A, Klein, W M, Oud, M M, Brands, M M, de Boer, L, Engelke, U F H, van Essen, P, Fuchs, S A, Haaxma, C A, Jensson, B O, Kluijtmans, L A J, Lengyel, A, Lichtenbelt, K D, Østergaard, E, Peters, G, Salvarinova, R, Simon, M E H, Stefansson, K, Thorarensen, Ó, Ulmen, U, Coene, K L M, Willemsen, M A, Lefeber, D J & Karnebeek, C D M V 2021, ' NANS-CDG : Delineation of the Genetic, Biochemical, and Clinical Spectrum ', Frontiers in Neurology, vol. 12, 668640 . https://doi.org/10.3389/fneur.2021.668640
Frontiers in Neurology, 12
Frontiers in Neurology, Vol 12 (2021)
Frontiers in Neurology
Frontiers in neurology, 12:668640. Frontiers Media S.A.

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, glycosylation, Genetic counseling, Other Research Radboud Institute for Molecular Life Sciences [Radboudumc 0], thrombocytopenia, skeletal dysplasia, Compound heterozygosity, Gastroenterology, Short stature, 03 medical and health sciences, Epilepsy, congenital disorder of glycosylation, All institutes and research themes of the Radboud University Medical Center, 0302 clinical medicine, Internal medicine, medicine, RC346-429, N-acetyl-D-neuraminic acid, Original Research, Cerebral atrophy, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], business.industry, Other Research Radboud Institute for Health Sciences [Radboudumc 0], intellectual developmental disorder/IDD, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, metabolic disease, Developmental disorder, 030104 developmental biology, Neurology, Dysplasia, sialic acid biosynthesis, Neurology. Diseases of the nervous system, Neurology (clinical), medicine.symptom, business, Congenital disorder of glycosylation, 030217 neurology & neurosurgery

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b43c25ea99a3697185811c0f8e3e2464
https://curis.ku.dk/portal/da/publications/nanscdg(71448156-5842-4473-8ce5-582da2117811).html

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