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المؤلفون: Norine Voisin, Frédéric Tran Mau-Them, Bruno Reversade, Damien Sanlaville, Charles Shaw-Smith, Qamariya Ambusaidi, Egle Preiksaitiene, Saumya Shekhar Jamuar, Glen R. Monroe, Angeline Lai, Alexandre Reymond, Michaël Wiederkehr, Jamel Chelly, Audrey Putoux, Bernd Roechert, Sylvain Pradervand, Caroline F. Wright, Peter M. van Hasselt, Loreta Cimbalistienė, Mais Hashem, Marguerite Neerman-Arbez, Gaetan Lesca, Vaidutis Kučinskas, Gijs van Haaften, Lim J. Ying, Fabienne Allias, Ioannis Xenarios, Laurent Guibaud, Wesam Kurdi, Tommaso Pippucci, Lucie Gueneau, Hanan E. Shamseldin, Julien Delafontaine, Carine Bonnard, Laima Ambrozaityte, Nicolas Guex, Fowzan S. Alkuraya, Richard J. Fish, Erica Schindewolf
المساهمون: Roechert, Bernd, Xenarios, Ioannis, Neerman Arbez, Marguerite, DDD Study, ACS - Amsterdam Cardiovascular Sciences, ARD - Amsterdam Reproduction and Development, Center for Reproductive Medicine, ACS - Heart failure & arrhythmias, ACS - Diabetes & metabolism, Lee Kong Chian School of Medicine (LKCMedicine), Obstetrics and gynaecology
المصدر: American Journal of Human Genetics
The American journal of human genetics, Cell Press, 2018, Vol. 102, p. 116-132
American Journal of Human Genetics, Vol. 102, No 1 (2018) pp. 116-132
American journal of human genetics, vol. 102, no. 1, pp. 116-132
American journal of human genetics, 102(1), 116-132. Cell Press
American Journal of Human Genetics, 102(1), 116. Cell Press
DDD Study 2018, ' KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis ', American journal of human genetics, vol. 102, no. 1, pp. 116-132 . https://doi.org/10.1016/j.ajhg.2017.12.002مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, Microphthalmia, 0302 clinical medicine, Adolescent, Animals, Arthrogryposis/genetics, Brain/diagnostic imaging, Brain/embryology, Brain/pathology, Child, Female, Gene Knockdown Techniques, Humans, Infant, Infant, Newborn, Magnetic Resonance Imaging, Mutation/genetics, Pedigree, Proteins/genetics, Zebrafish, Zebrafish Proteins/genetics, arthrogryposis, brain malformations, cerebellar hypoplasia, clubfoot, hydrocephaly, whole-exome sequencing, Medicine, Missense mutation, Science::Medicine [DRNTU], ddc:576.5, Global developmental delay, Cerebellar hypoplasia, Genetics (clinical), Exome sequencing, Arthrogryposis, Hydrocephaly, Brain, Clubfoot, Whole-exome sequencing, medicine.symptom, medicine.medical_specialty, Article, 03 medical and health sciences, Dysgenesis, Genetics, Syndactyly, business.industry, Brain malformations, Proteins, Zebrafish Proteins, medicine.disease, 030104 developmental biology, Mutation, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf; image/pdf
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المؤلفون: David L. Hacker, Robert M. Witwicki, Emmanouil T. Dermitzakis, Andrea Orioli, Luciana Romano-Palumbo, Alexandra Planchon, Sebastian M. Waszak, Nikolaos I Panousis, Ismael Padioleau, Nouria Hernandez, Alisa Yurovsky, Andreas R. Gschwind, Sarah Thurnheer, Deborah Bielser, Bart Deplancke, Alexandre Reymond, Gilles Udin, Helena Kilpinen, Sunil K. Raghav, Olivier Delaneau, Michaël Wiederkehr
المصدر: Cell
Cell, Vol. 162, No 5 (2015) pp. 1039-1050مصطلحات موضوعية: Population, Quantitative Trait Loci, Biology, Regulatory Sequences, Nucleic Acid, General Biochemistry, Genetics and Molecular Biology, Genetic variation, Chromosomes, Human/chemistry, Chromosomes, Human, Humans, ddc:576.5, Transcription Factors/metabolism, education, skin and connective tissue diseases, Transcription factor, Gene, ChIA-PET, Genetics, education.field_of_study, Biochemistry, Genetics and Molecular Biology(all), Genome, Human, Genetic Variation, Chromatin/chemistry/metabolism, Chromatin, Histone, Genetics, Population, Gene Expression Regulation, biology.protein, Human genome, sense organs, Transcription Factors
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المؤلفون: Halit Ongen, Daniel Marbach, Luciana Romano, Sunil Kumar, Alexandre Reymond, Stylianos E. Antonarakis, Marianna Zazhytska, Olivier Delaneau, Deborah Bielser, Philipp Bucher, Pascale Ribaux, Cédric Howald, Michaël Wiederkehr, Konstantin Popadin, David L. Hacker, Sven Bergmann, Emilie Falconnet, Christelle Borel, Giovanna Ambrosini, Emmanouil T. Dermitzakis
مصطلحات موضوعية: Genetics, 0303 health sciences, Genomics, Promoter, Computational biology, Biology, Chromatin, 03 medical and health sciences, 0302 clinical medicine, Expression quantitative trait loci, Human genome, Enhancer, Gene, 030217 neurology & neurosurgery, ChIA-PET, 030304 developmental biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bea1d517ca9bc517f241852f3aac8ee5
https://doi.org/10.1101/171694 -
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المؤلفون: Alisa Yurovsky, Nikolaos I Panousis, Sebastian M. Waszak, Alexandra Planchon, Tuuli Lappalainen, Andrea Orioli, Sarah Thurnheer, Bart Deplancke, Leighton J. Core, Alexandre Reymond, Ismael Padioleau, Julien Bryois, Nouria Hernandez, Gilles Udin, Luciana Romano-Palumbo, Helena Kilpinen, Robert M. Witwicki, Andreas R. Gschwind, Emmanouil T. Dermitzakis, Deborah Bielser, Sunil K. Raghav, Maria Gutierrez-Arcelus, David L. Hacker, Eugenia Migliavacca, Michaël Wiederkehr, John T. Lis
المصدر: Science, Vol. 342, No 6159 (2013) pp. 744-747
Science
Science, vol. 342, no. 6159, pp. 744-747مصطلحات موضوعية: Histone-modifying enzymes, Transcription, Genetic, Biology, Binding Sites/genetics, Histones/chemistry/metabolism, Polymorphism, Single Nucleotide, Article, Chromatin remodeling, Histones, 03 medical and health sciences, 0302 clinical medicine, Histone methylation, Humans, Histone code, ddc:576.5, Transcription Factors/metabolism, Promoter Regions, Genetic, DNA/chemistry/metabolism, Alleles, ChIA-PET, 030304 developmental biology, Epigenomics, Genetics, 0303 health sciences, Binding Sites, Multidisciplinary, Base Sequence, Genetic Variation, DNA, Base Sequence/genetics, Chromatin/chemistry/metabolism, Chromatin, ChIP-sequencing, Gene Expression Regulation, 030217 neurology & neurosurgery, Transcription Factors
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::286d7bd79f5ca4ca3e33582bd4651dca
https://doi.org/10.1126/science.1242463 -
5دورية أكاديمية
المؤلفون: Mélissa Ruiz, Urs Schaltegger, Sean P. Gaynor, Massimo Chiaradia, Jürgen Abrecht, Christian Gisler, Federico Giovanoli, Michael Wiederkehr
المصدر: Swiss Journal of Geosciences, Vol 115, Iss 1, Pp 1-24 (2022)
وصف الملف: electronic resource
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المؤلفون: Michaël Wiederkehr, Lucienne Juillerat-Jeanneret, Mona A. Furrer, Frédéric Schmitt, Bruno Therrien
المصدر: Dalton Transactions
مصطلحات موضوعية: Models, Molecular, Stereochemistry, Molecular Conformation, chemistry.chemical_element, Ether, Antineoplastic Agents, macromolecular substances, 010402 general chemistry, 01 natural sciences, Medicinal chemistry, Ruthenium, Inorganic Chemistry, chemistry.chemical_compound, Amide, Organometallic Compounds, Moiety, Humans, Alkane, chemistry.chemical_classification, Pyrenes, 010405 organic chemistry, Ligand, Water, Biological Transport, Fluorescence, 0104 chemical sciences, chemistry, Solubility, Pyrene, HeLa Cells
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9f587b0db8684ba44c527412a289c4b
https://pubmed.ncbi.nlm.nih.gov/22506276