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1دورية 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
Relation: https://doaj.org/toc/1750-1172
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2دورية أكاديمية
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
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3دورية أكاديمية
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
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4
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)
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5
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)
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6
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)
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7
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
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8
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 Diseasesمصطلحات 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
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9دورية أكاديمية
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)
وصف الملف: electronic resource
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10
المؤلفون: Marie Véronique, Gaudet, Eric Pierre, Allain, Lynne M, Gallant, Heleen H, Arts, Mouna, Ben Amor
المصدر: Journal of medical genetics.