المؤلفون: Uluç Yiş, Denisa Hathazi, Serdal Güngör, Ezgi Karaca, Ipek Kalafatcilar, Ahmet Yaramis, Ece Sonmezler, Nóra Zs Szabó, Ana Töpf, Elmasnur Yilmaz, Daniel G. MacArthur, Andreas Roos, Burcu Ekinci, Sunitha Balaraju, Steven Laurie, Bilge Özgör, Rita Horvath, Mahmut Aslan, Isabelle Vernos, Yavuz Oktay, Semra Hiz, Hanns Lochmüller, Sergi Beltran, Álvaro Aranguren-Ibáñez

المساهمون: Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository

المصدر: iScience
iScience, Vol 24, Iss 1, Pp 101948-(2021)

مصطلحات موضوعية: 0301 basic medicine, Protemics, Medizin, 02 engineering and technology, Molecular neuroscience, macromolecular substances, medicine.disease_cause, Article, Extracellular matrix, 03 medical and health sciences, Malalties del neurodesenvolupament, Microtubule, medicine, lcsh:Science, Cell adhesion, Cytoskeleton, health care economics and organizations, Mutation, Multidisciplinary, biology, Systems Biology, Clinical Neuroscience, Biological Sciences, 021001 nanoscience & nanotechnology, Cell biology, 030104 developmental biology, Tubulin, biology.protein, lcsh:Q, Axon guidance, Molecular Neuroscience, 0210 nano-technology, Proteïnes, Genètica, Neuroscience

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7396541582b104f4e888201af99ec4d8Test

المؤلفون: Sabrina Giglio, Allan Bayat, Helen Stewart, Steven Laurie, Livia Garavelli, Renata Rizzo, Marzia Pollazzon, Chiara Baldo, Janice Baker, Chiara Pantaleoni, Simonetta Rosato, Anna Lauriello, Ivan Ivanovski, Aldesia Provenzano, Orsetta Zuffardi, Elena Andreucci, Teresa Mattina, Alyssa Mendel, Davide Nicoli, Giorgia Carboni, Manuela Napoli, Stefano Giuseppe Caraffi, Francesca Peluso, Gabriele Trimarchi, Josue Flores-Daboub, Paolo Prontera, Ilenia Maini, Maria Marinelli, Nancy J. Mendelsohn, Katherine Lachlan, Gianluca Piatelli, Sara Giangiobbe

المصدر: Giangiobbe, S, Caraffi, S G, Ivanovski, I, Maini, I, Pollazzon, M, Rosato, S, Trimarchi, G, Lauriello, A, Marinelli, M, Nicoli, D, Baldo, C, Laurie, S, Flores-Daboub, J, Provenzano, A, Andreucci, E, Peluso, F, Rizzo, R, Stewart, H, Lachlan, K, Bayat, A, Napoli, M, Carboni, G, Baker, J, Mendel, A, Piatelli, G, Pantaleoni, C, Mattina, T, Prontera, P, Mendelsohn, N J, Giglio, S, Zuffardi, O & Garavelli, L 2020, ' Expanding the phenotype of Wiedemann-Steiner syndrome : Craniovertebral junction anomalies ', American Journal of Medical Genetics, Part A, vol. 182, no. 12, pp. 2877-2886 . https://doi.org/10.1002/ajmg.a.61859Test

مصطلحات موضوعية: Adult, Male, Hypertrichosis, Pathology, medicine.medical_specialty, Contracture, Wiedemann–Steiner syndrome, Adolescent, Chiari malformation, Short stature, cervical C2/C3 vertebral fusion, Young Adult, Intellectual Disability, Genetics, medicine, Humans, Abnormalities, Multiple, craniovertebral junction, Epigenetics, Child, Growth Disorders, Genetics (clinical), Loss function, small foramen magnum, biology, business.industry, Facies, Histone-Lysine N-Methyltransferase, Syndrome, KMT2A, medicine.disease, Phenotype, medicine.anatomical_structure, Wiedemann-Steiner syndrome, Child, Preschool, Mutation, Cervical Vertebrae, Microcephaly, biology.protein, Female, medicine.symptom, business, Myeloid-Lymphoid Leukemia Protein, Cervical vertebrae

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2ab3754ed745942da035c6ccf40fb9bTest
https://findresearcher.sdu.dk:8443/ws/files/174125064/ajmg.a.61859.pdfTest

المؤلفون: Simon R. Turner, Neil G. Taylor, Steven Laurie

المصدر: The Plant Cell. 12:2529

مصطلحات موضوعية: DNA, Complementary, Protein subunit, Molecular Sequence Data, Mutant, Arabidopsis, Plant Science, Cell wall, chemistry.chemical_compound, Catalytic Domain, Cellulose synthase complex, Amino Acid Sequence, Cloning, Molecular, Cellulose, DNA Primers, Base Sequence, Sequence Homology, Amino Acid, ATP synthase, biology, Arabidopsis Proteins, Cell Biology, biology.organism_classification, Molecular biology, Phenotype, chemistry, Biochemistry, Glucosyltransferases, biology.protein, Secondary cell wall, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6feee7a176f6d89150d7ea9381d5fffcTest
https://doi.org/10.2307/3871246Test