يعرض 1 - 10 نتائج من 53 نتيجة بحث عن '"Heleen H. Arts"', وقت الاستعلام: 1.09s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

    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

    Relation: https://doaj.org/toc/1750-1172

    URL الوصول: https://doaj.org/article/3a057c1244e44416b324608e85beb311

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  2. 2
    دورية أكاديمية
    An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

    المؤلفون: Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard Dougherty, Ideke J. C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo L. Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Kepes, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, UK10K Rare Diseases Group

    المصدر: Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)

    مصطلحات موضوعية: Science

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/2041-1723

    URL الوصول: https://doaj.org/article/22bd7d5adfdc431187d2dc80408e8af0

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  3. 3
    دورية أكاديمية
    The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis

    المؤلفون: Kirsten Y. Renkema, Rachel H. Giles, Marc R. Lilien, Philip L. Beales, Ronald Roepman, Machteld M. Oud, Heleen H. Arts, Nine V. A. M. Knoers

    المصدر: Frontiers in Pediatrics, Vol 6 (2018)

    مصطلحات موضوعية: cilia, pediatric kidney disease, nephronophthisis, renal ciliopathy, genetics, Pediatrics, RJ1-570

    وصف الملف: electronic resource

    Relation: http://journal.frontiersin.org/article/10.3389/fped.2018.00131/full; https://doaj.org/toc/2296-2360

    URL الوصول: https://doaj.org/article/590e498d10ab4fd8b983ff27a9f4a513

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  4. 4
    Increased intracranial pressure in a patient with Congenital Heart Defect and Ectodermal Dysplasia (CHDED): Extension of phenotype and review of literature

    المؤلفون: Fahad A. Alghaith, Heleen H. Arts, Francois J. Plourde, Andrew Boswall, Partima Gulati, P. Daniel McNeely, Philip D. Acott, Kenny K. Wong, Sarah Dyack

    المصدر: American Journal of Medical Genetics Part A. 191:554-558

    مصطلحات موضوعية: Genetics, Genetics (clinical)

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3e18a173d35ea8dfa856a226b9c1c98c
    https://doi.org/10.1002/ajmg.a.63023

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  5. 5
    WDR35 variants in a cranioectodermal dysplasia patient with early onset end‐stage renal disease and retinal dystrophy

    المؤلفون: Joanna Walczak‐Sztulpa, Anna Wawrocka, Weronika Sikora, Marta Pawlak, Ewelina Bukowska‐Olech, Bartłomiej Kopaczewski, Agnieszka Urzykowska, Heleen H. Arts, Anna Gotz‐Więckowska, Ryszard Grenda, Anna Latos‐Bieleńska, Renata Glazar

    المصدر: American Journal of Medical Genetics Part A. 188:3071-3077

    مصطلحات موضوعية: Genetics, Genetics (clinical)

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::812737b3ded08dc0aefa744e217a5a54
    https://doi.org/10.1002/ajmg.a.62903

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  6. 6
    A 132 bp deletion affecting theKCNQ1OT1gene associated with Silver-Russell syndrome clinical phenotype

    المؤلفون: Marie Véronique Gaudet, Eric Pierre Allain, Lynne M Gallant, Heleen H Arts, Mouna Ben Amor

    المصدر: Journal of Medical Genetics. 60:134-136

    مصطلحات موضوعية: Genetics, Genetics (clinical)

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a1c6f6ea268b0883bd3622247963dbff
    https://doi.org/10.1136/jmedgenet-2021-108288

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  7. 7
    Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35

    المؤلفون: Heleen H. Arts, Boyana Mikulska, Maciej R Krawczyński, Beata Leszczyńska, Maria Daniel, Anna Wawrocka, Ewelina Bukowska-Olech, Anna Latos-Bielenska, Ewa Obersztyn, Joanna Walczak-Sztulpa

    المصدر: American Journal of Medical Genetics Part A. 182:2417-2425

    مصطلحات موضوعية: 0301 basic medicine, Proband, Pathology, medicine.medical_specialty, medicine.diagnostic_test, Genetic heterogeneity, business.industry, fungi, Prenatal diagnosis, 030105 genetics & heredity, medicine.disease, Compound heterozygosity, Sensenbrenner syndrome, 03 medical and health sciences, Ciliopathy, 030104 developmental biology, Genetics, medicine, business, Cranioectodermal Dysplasia, Genetics (clinical), Genetic testing

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1f30460e4cc44b92402c782f45f3e3e0
    https://doi.org/10.1002/ajmg.a.61785

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  8. 8
    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

    وصف الملف: application/pdf

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

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  9. 9
    دورية أكاديمية
    The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.

    المؤلفون: Ruxandra Bachmann-Gagescu, Margo Dona, Lisette Hetterschijt, Edith Tonnaer, Theo Peters, Erik de Vrieze, Dorus A Mans, Sylvia E C van Beersum, Ian G Phelps, Heleen H Arts, Jan E Keunen, Marius Ueffing, Ronald Roepman, Karsten Boldt, Dan Doherty, Cecilia B Moens, Stephan C F Neuhauss, Hannie Kremer, Erwin van Wijk

    المصدر: PLoS Genetics, Vol 11, Iss 10, p e1005575 (2015)

    مصطلحات موضوعية: Genetics, QH426-470

    وصف الملف: electronic resource

    Relation: http://europepmc.org/articles/PMC4617701?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

    URL الوصول: https://doaj.org/article/08a6b296c08e4098b69576d26dadd7af

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  10. 10
    A 132 bp deletion affecting the

    المؤلفون: Marie Véronique, Gaudet, Eric Pierre, Allain, Lynne M, Gallant, Heleen H, Arts, Mouna, Ben Amor

    المصدر: Journal of medical genetics.

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::db4ded8ac1a41b5a76656b533268c89d
    https://pubmed.ncbi.nlm.nih.gov/35772847

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