-
1دورية 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
-
2دورية أكاديمية
المؤلفون: Evelyn N Kouwenhoven, Simon J van Heeringen, Juan J Tena, Martin Oti, Bas E Dutilh, M Eva Alonso, Elisa de la Calle-Mustienes, Leonie Smeenk, Tuula Rinne, Lilian Parsaulian, Emine Bolat, Rasa Jurgelenaite, Martijn A Huynen, Alexander Hoischen, Joris A Veltman, Han G Brunner, Tony Roscioli, Emily Oates, Meredith Wilson, Miguel Manzanares, José Luis Gómez-Skarmeta, Hendrik G Stunnenberg, Marion Lohrum, Hans van Bokhoven, Huiqing Zhou
المصدر: PLoS Genetics, Vol 6, Iss 8, p e1001065 (2010)
وصف الملف: electronic resource
-
3دورية أكاديمية
المؤلفون: Riccardo Migliavada, Carol Coricelli, Esra Emine Bolat, Ceyhun Uçuk, Luisa Torri
المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-13 (2022)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
-
4
-
5
المؤلفون: Emine Bolat Hülya Dede, Merve Çakır
المصدر: Mediterranean Journal of Educational Research. 14:336-353
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::26990471bc7fd266778230b3eb6593b4
https://doi.org/10.29329/mjer.2020.234.16 -
6
المؤلفون: Elisabeth Rosser, Suzanne E. Clements, Rowdy Meijer, Evert N. Lamme, Pascal H.G. Duijf, Han G. Brunner, John A. McGrath, Emine Bolat, Huiqing Zhou, Hans van Bokhoven, Tiong Yang Tan, Joost Schalkwijk, Hans Scheffer, Tuula Rinne
المصدر: Human Molecular Genetics, 17, 1968-1977
Human Molecular Genetics, 17, 13, pp. 1968-1977مصطلحات موضوعية: Keratinocytes, Male, Transcriptional Activation, Gene isoform, Ectodermal dysplasia, Hay–Wells syndrome, Genetics and epigenetic pathways of disease [NCMLS 6], Adolescent, Transcription, Genetic, Molecular Sequence Data, Mutant, Biology, medicine.disease_cause, Genomic disorders and inherited multi-system disorders [IGMD 3], Mice, Translational research [ONCOL 3], Ectodermal Dysplasia, Cell Line, Tumor, Genetics, medicine, Animals, Humans, Missense mutation, Abnormalities, Multiple, Amino Acid Sequence, Child, Molecular Biology, Gene, Cells, Cultured, Genetics (clinical), Chronic inflammation and autoimmunity [UMCN 4.2], Mutation, Base Sequence, Membrane Proteins, General Medicine, medicine.disease, Pathogenesis and modulation of inflammation [N4i 1], Genetic defects of metabolism [UMCN 5.1], Codon, Nonsense, Child, Preschool, Protein Biosynthesis, Female, Mouth Abnormalities, Haploinsufficiency, Functional Neurogenomics [DCN 2], Infection and autoimmunity [NCMLS 1], Sequence Alignment, Immunity, infection and tissue repair [NCMLS 1]
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a58065dfef9679cd34e60d189d3c489
https://doi.org/10.1093/hmg/ddn094 -
7
المؤلفون: Dorus A. Mans, Liesbeth Spruijt, Emine Bolat, Nicole de Leeuw, Janneke H M Schuurs-Hoeijmakers, Machteld M. Oud, Sylvia E. C. van Beersum, Han G. Brunner, Elisabeth A.M. Cornelissen, Valérie Cormier-Daire, Heleen H. Arts, Ronald Roepman, Ernie M.H.F. Bongers, Nine V A M Knoers
المساهمون: Department of human genetics, Radboud University Medical Center [Nijmegen] - Nijmegen Centre for Molecular Life Sciences - Institute for Genetic and Metabolic Disorders, CHU Necker - Enfants Malades [AP-HP], University Medical Center Utrecht, Radboud University Medical Center [Nijmegen]-Nijmegen Centre for Molecular Life Sciences-Institute for Genetic and Metabolic Disorders, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), University Medical Center [Utrecht]
المصدر: Journal of Medical Genetics, 48, 6, pp. 390-5
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2011, 48 (6), pp.390. 〈10.1136/jmg.2011.088864〉
Journal of Medical Genetics, BMJ Publishing Group, 2011, 48 (6), pp.390. ⟨10.1136/jmg.2011.088864⟩
Journal of Medical Genetics; Vol 48
JOURNAL OF MEDICAL GENETICS, 48(6), 390-395. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 48, 390-5مصطلحات موضوعية: Male, Carrier Proteins/genetics, Genetics and epigenetic pathways of disease [NCMLS 6], Calcium and bone, medicine.disease_cause, Craniofacial Abnormalities, Ectodermal Dysplasia, Fibroblasts/physiology, Recombinant Proteins/genetics, Molecular genetics, Ciliary tip, Child, Genetics (clinical), Renal disorder [IGMD 9], Netherlands, Oligonucleotide Array Sequence Analysis, 0303 health sciences, Mutation, Renal Medicine, Cilium, 030305 genetics & heredity, Single Nucleotide, Syndrome, Recombinant Proteins, Transport protein, Sensenbrenner syndrome, Morocco, Protein Transport, Flagella, Morocco/ethnology, Cell biology, Protein subunit, Molecular Sequence Data, Netherlands/epidemiology, Biology, Transfection, Polymorphism, Single Nucleotide, 03 medical and health sciences, Cilia/genetics, Intraflagellar transport, Genetics, medicine, Animals, Humans, Clinical genetics, Cilia, Polymorphism, 030304 developmental biology, Hereditary cancer and cancer-related syndromes [ONCOL 1], Base Sequence, Siblings, Craniofacial Abnormalities/ethnology, Protein Transport/genetics, Fibroblasts, medicine.disease, Ectodermal Dysplasia/ethnology, Molecular biology, Flagella/genetics, Ciliopathy, HEK293 Cells, Genetics and epigenetic pathways of disease Renal disorder [NCMLS 6], sense organs, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Carrier Proteins
وصف الملف: application/pdf
-
8
المؤلفون: C. Johannes Gloeckner, Jeroen van Reeuwijk, Emine Bolat, Karsten Boldt, Susanne Roosing, Stef J.F. Letteboer, Ronald Roepman, Karlien L.M. Coene, Theo A. Peters, Dorus A. Mans, Marius Ueffing, Frans P.M. Cremers
المصدر: Hum. Mol. Genet. 20, 3592-3605 (2011)
Human Molecular Genetics; Vol 20
Human Molecular Genetics, 20, 3592-605
Human Molecular Genetics, 20, 18, pp. 3592-605مصطلحات موضوعية: Genetics and epigenetic pathways of disease [NCMLS 6], Protein family, Leber Congenital Amaurosis, Protein Serine-Threonine Kinases, Biology, Ciliopathies, Retina, Cell Line, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, 0302 clinical medicine, Cerebellar Diseases, Cerebellum, Genetics, Ciliary rootlet, medicine, Animals, Humans, NIMA-Related Kinases, Abnormalities, Multiple, Cilia, Eye Abnormalities, Rats, Wistar, Molecular Biology, Genetics (clinical), Adaptor Proteins, Signal Transducing, 030304 developmental biology, Serine/threonine-specific protein kinase, 0303 health sciences, Cilium, Proteins, General Medicine, Kidney Diseases, Cystic, medicine.disease, Cilium assembly, Rats, Cytoskeletal Proteins, Ciliopathy, nima-related kinase, polycystic kidney-disease, regulator (rpgr)-interacting protein, leber congenital amaurosis, joubert-syndrome, retinal degeneration, statistical-model, ciliary rootlet, murine models, family kinase, RPGRIP1L, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Functional Neurogenomics [DCN 2], 030217 neurology & neurosurgery, Protein Binding
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96495ec5414979334818ddff17df03bb
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=6167 -
9
المؤلفون: Rasa Jurgelenaite, M. Eva Alonso, Hans van Bokhoven, Martijn A. Huynen, Tuula Rinne, Emine Bolat, Evelyn N. Kouwenhoven, Tony Roscioli, Lilian Parsaulian, Bas E. Dutilh, Meredith Wilson, Martin Oti, Huiqing Zhou, Juan J. Tena, Joris A. Veltman, Emily C. Oates, José Luis Gómez-Skarmeta, Simon J. van Heeringen, Miguel Manzanares, Han G. Brunner, Elisa de la Calle-Mustienes, Leonie Smeenk, Marion Lohrum, Alexander Hoischen, Hendrik G. Stunnenberg
المساهمون: Fundación Pro CNIC, European Commission, National Foundation for Ectodermal Dysplasias, Ministerio de Ciencia e Innovación (España)
المصدر: Plos Genetics, 6, e1001065-e1001065
PLoS Genetics, Vol 6, Iss 8, p e1001065 (2010)
Plos Genetics, 6, 8, pp. e1001065-e1001065
Digital.CSIC. Repositorio Institucional del CSIC
instname
Plos Genetics, 6, 8
Plos Genetics, 6
PLoS Geneticsمصطلحات موضوعية: Keratinocytes, Male, Cancer Research, Genetics and epigenetic pathways of disease [NCMLS 6], Mice, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Genetics and Genomics/Genetics of Disease, Cells, Cultured, Zebrafish, Genetics (clinical), Genetics, Regulation of gene expression, Developmental Biology/Morphogenesis and Cell Biology, Genetics and Genomics/Functional Genomics, Gene Expression Regulation, Developmental, DNA-Binding Proteins, Enhancer Elements, Genetic, Mitochondrial medicine [IGMD 8], Child, Preschool, Female, Functional Neurogenomics [DCN 2], Chromosomes, Human, Pair 7, Research Article, Protein Binding, Chromatin Immunoprecipitation, Proteasome Endopeptidase Complex, Energy and redox metabolism [NCMLS 4], lcsh:QH426-470, Molecular Sequence Data, Limb Deformities, Congenital, Locus (genetics), Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], Animals, Humans, Limb development, Enhancer, Transcription factor, Gene, Molecular Biology, Ecology, Evolution, Behavior and Systematics, Homeodomain Proteins, Binding Sites, Base Sequence, Data Science, Membrane Proteins, Genetics and Genomics, DNA binding site, lcsh:Genetics, Genetics and Genomics/Disease Models, Chromatin immunoprecipitation, Developmental Biology, Genome-Wide Association Study, Transcription Factors
وصف الملف: application/pdf; 2846376 bytes
-
10
المؤلفون: Tuula Rinne, Hans Scheffer, Hans van Bokhoven, Emine Bolat, Rowdy Meijer
المصدر: American Journal of Medical Genetics. Part A, 149A, 1948-51
American Journal of Medical Genetics. Part A, 149A, 9, pp. 1948-51مصطلحات موضوعية: Ectodermal dysplasia, Genetics and epigenetic pathways of disease [NCMLS 6], Cleft Lip, education, DNA Mutational Analysis, Molecular Sequence Data, Neuroinformatics [DCN 3], medicine.disease_cause, Frameshift mutation, Genomic disorders and inherited multi-system disorders [IGMD 3], Cohort Studies, SAM Domain and HD Domain-Containing Protein 1, Exon, Mice, Ectodermal Dysplasia, TP63, Genetics, medicine, Missense mutation, Animals, Humans, Protein Isoforms, Abnormalities, Multiple, Amino Acid Sequence, Gene, Genetics (clinical), Monomeric GTP-Binding Proteins, Mutation, business.industry, Tumor Suppressor Proteins, Eyelids, DNA, Exons, Syndrome, medicine.disease, Cleft Palate, Trans-Activators, business, Functional Neurogenomics [DCN 2], Sequence Alignment, Rapp–Hodgkin syndrome, Transcription Factors
وصف الملف: application/pdf