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1دورية أكاديمية
المؤلفون: Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi, Erica H. Gerkes, Alexander P.A. Stegmann, Estrella López-Martín, Eva Bermejo-Sánchez, Beatriz Martínez-Delgado, Christiane Zweier, Cornelia Kraus, Bernt Popp, Vincent Strehlow, Daniel Gräfe, Ina Knerr, Eppie R. Jones, Stefano Zamuner, Luciano A. Abriata, Vidya Kunnathully, Brandon E. Moeller, Anthony Vocat, Samuel Rommelaere, Jean-Philippe Bocquete, Evelyne Ruchti, Greta Limoni, Marine Van Campenhoudt, Samuel Bourgeat, Petra Henklein, Christian Gilissen, Bregje W. van Bon, Rolph Pfundt, Marjolein H. Willemsen, Jolanda H. Schieving, Emanuela Leonardi, Fiorenza Soli, Alessandra Murgia, Hui Guo, Qiumeng Zhang, Kun Xia, Christina R. Fagerberg, Christoph P. Beier, Martin J. Larsen, Irene Valenzuela, Paula Fernández-Álvarez, Shiyi Xiong, Robert Śmigiel, Vanesa López-González, Lluís Armengol, Manuela Morleo, Angelo Selicorni, Annalaura Torella, Moira Blyth, Nicola S. Cooper, Valerie Wilson, Renske Oegema, Yvan Herenger, Aurore Garde, Ange-Line Bruel, Frederic Tran Mau-Them, Alexis B.R. Maddocks, Jennifer M. Bain, Musadiq A. Bhat, Gregory Costain, Peter Kannu, Ashish Marwaha, Neena L. Champaigne, Michael J. Friez, Ellen B. Richardson, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Yask Gupta, Tze Y. Lim, Simone Sanna-Cherchi, Bruno Lemaitre, Toshiyuki Yamaji, Kentaro Hanada, John E. Burke, Ana Marjia Jakšić, Brian D. McCabe, Paolo De Los Rios, Thorsten Hornemann, Giovanni D’Angelo, Vincenzo A. Gennarino
المصدر: The Journal of Clinical Investigation, Vol 133, Iss 10 (2023)
مصطلحات موضوعية: Cell biology, Genetics, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1558-8238Test
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2دورية أكاديمية
المؤلفون: Elena Rossi, Roberto Giorda, Maria Clara Bonaglia, Stefania Di Candia, Elena Grechi, Adriana Franzese, Fiorenza Soli, Francesca Rivieri, Maria Grazia Patricelli, Donatella Saccilotto, Aldo Bonfante, Sabrina Giglio, Silvana Beri, Mariano Rocchi, Orsetta Zuffardi
المصدر: PLoS ONE, Vol 7, Iss 6, p e39180 (2012)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC3375265?pdf=renderTest; https://doaj.org/toc/1932-6203Test
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المؤلفون: Pierpaola Tannorella, Luciano Calzari, Cecilia Daolio, Ester Mainini, Alessandro Vimercati, Davide Gentilini, Fiorenza Soli, Annalisa Pedrolli, Maria Teresa Bonati, Lidia Larizza, Silvia Russo
المصدر: Clinical Epigenetics. 14
مصطلحات موضوعية: Abortion, Spontaneous, Genomic Imprinting, Beckwith-Wiedemann Syndrome, Germ Cells, Pregnancy, Infertility, Genetics, Humans, Female, DNA Methylation, Molecular Biology, Genetics (clinical), Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0dace534547dd53089f209f5aefb0e7bTest
https://doi.org/10.1186/s13148-022-01262-2Test -
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المصدر: Seizure. 94
مصطلحات موضوعية: Neurology, 14-3-3 Proteins, Mutation, Humans, Infant, Electroencephalography, Epilepsies, Myoclonic, Neurology (clinical), General Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2312bc35d0cfb9515bed39c60f99c30Test
https://pubmed.ncbi.nlm.nih.gov/34915349Test -
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المؤلفون: Simone Rugolotto, David L. Nelson, Catherine D. Kashork, Jean-Paul Bonnefont, Teresa Esposito, Lynn Greenhalgh, Swaroop Aradhya, Susan Kenwrick, T. Jakins, Richard A. Lewis, Eric Mayer, Alberto Turco, Arnold Munnich, Lisa G. Shaffer, D. Hamel-Teillac, A. Smahi, Fiorenza Soli, Moise L. Levy, Stanislas Lyonnet, Hayley Woffendin, Tiziana Bardaro, S. Garry Shuttleworth, Michele D'Urso, Joanne Whittaker
المصدر: The American Journal of Human Genetics. 69:1210-1217
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Ectodermal dysplasia, Protein Serine-Threonine Kinases, Biology, Gene mutation, medicine.disease_cause, Polymerase Chain Reaction, 030207 dermatology & venereal diseases, 03 medical and health sciences, Klinefelter Syndrome, 0302 clinical medicine, Dosage Compensation, Genetic, IKBKG, Genetics, medicine, Humans, Incontinentia Pigmenti, Child, Skewed X-inactivation, Alleles, Genetics (clinical), Immunodeficiency, Sequence Deletion, 030304 developmental biology, 0303 health sciences, Mutation, Mosaicism, Infant, Newborn, Infant, Articles, Incontinentia pigmenti, medicine.disease, I-kappa B Kinase, Pedigree, 3. Good health, Survival Rate, Meiosis, Child, Preschool, Karyotyping, Female, Genes, Lethal, Klinefelter syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44791bc04e730e03c5aa7859224d99f3Test
https://doi.org/10.1086/324591Test -
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المؤلفون: Roberto Giorda, Adriana Franzese, Elena Grechi, Donatella Saccilotto, Francesca Rivieri, Fiorenza Soli, Sabrina Giglio, Orsetta Zuffardi, Silvana Beri, Elena Rossi, Maria Clara Bonaglia, Maria Grazia Patricelli, Mariano Rocchi, Stefania Di Candia, A Bonfante
المساهمون: E., Rossi, R., Giorda, M. C., Bonaglia, S. D., Candia, E., Grechi, Franzese, Adriana, F., Soli, F., Rivieri, M. G., Patricelli, D., Saccilotto, A., Bonfante, S., Giglio, S., Beri, M., Rocchi, O., Zuffardi
المصدر: PLoS ONE, Vol 7, Iss 6, p e39180 (2012)
PLoS ONEمصطلحات موضوعية: medicine.medical_specialty, Derivative chromosome, Marker chromosome, 15q11-q13 region, Unbalanced Translocations, Prader-Willi and Angelman Syndrome, inv dup(15), lcsh:Medicine, Chromosomal translocation, Biology, Translocation, Genetic, Chromosomal Disorders, Cytogenetics, Chromosome 15, Human genetics, Genetics, medicine, Humans, lcsh:Science, Chromosomal inversion, Multidisciplinary, Autosome, Chromosome Biology, lcsh:R, Genomics, Disorders of imprinting, Angelman syndrome, Genetics of Disease, Chromosome Inversion, Translocations, lcsh:Q, Prader-Willi syndrome, Chromosome 21, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::795104faa43b203dc2e0408d51db4d6bTest
https://doi.org/10.1371/journal.pone.0039180Test