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

الوصول الحر: https://doaj.org/article/47a113198d5649e88315ddec99f2067fTest

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)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC3375265?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/0a8206a44a7c40d8b9fdba6c2e06f782Test

المؤلفون: Francesca Piceci-Sparascio, Lucia Micale, Barbara Torres, Valentina Guida, Federica Consoli, Isabella Torrente, Annamaria Onori, Emanuela Frustaci, Maria Cecilia D’Asdia, Francesco Petrizzelli, Laura Bernardini, Cecilia Mancini, Fiorenza Soli, Dario Cocciadiferro, Daniele Guadagnolo, Gioia Mastromoro, Carolina Putotto, Franco Fontana, Nicola Brunetti-Pierri, Antonio Novelli, Antonio Pizzuti, Bruno Marino, Maria Cristina Digilio, Tommaso Mazza, Bruno Dallapiccola, Victor Luis Ruiz-Perez, Marco Tartaglia, Marco Castori, Alessandro De Luca

المساهمون: Piceci-Sparascio, Francesca, Micale, Lucia, Torres, Barbara, Guida, Valentina, Consoli, Federica, Torrente, Isabella, Onori, Annamaria, Frustaci, Emanuela, D'Asdia, Maria Cecilia, Petrizzelli, Francesco, Bernardini, Laura, Mancini, Cecilia, Soli, Fiorenza, Cocciadiferro, Dario, Guadagnolo, Daniele, Mastromoro, Gioia, Putotto, Carolina, Fontana, Franco, Brunetti-Pierri, Nicola, Novelli, Antonio, Pizzuti, Antonio, Marino, Bruno, Digilio, Maria Cristina, Mazza, Tommaso, Dallapiccola, Bruno, Ruiz-Perez, Victor Lui, Tartaglia, Marco, Castori, Marco, De Luca, Alessandro

مصطلحات موضوعية: Genetics, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c24f497f83927e0c02f7a9c18c6dc1c7Test
https://hdl.handle.net/11588/907836Test

المؤلفون: Francesca Romana Lepri, Evelina Maines, Massimo Soffiati, Roberto Franceschi, Diego Martinelli, Giovanni Piccoli, Fiorenza Soli

المصدر: Hormones. 20:623-640

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, Genetic counseling, medicine.medical_treatment, Recurrent hypoglycemia, 030209 endocrinology & metabolism, 030204 cardiovascular system & hematology, Hypoglycemia, Phosphatidylinositol 3-Kinases, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Missense mutation, PTEN, Protein Phosphatase 2, Protein kinase B, PI3K/AKT/mTOR pathway, biology, business.industry, TOR Serine-Threonine Kinases, Insulin, General Medicine, medicine.disease, Megalencephaly, Cancer research, biology.protein, business, Proto-Oncogene Proteins c-akt, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::612503efbb12cf43d8f98a42c907dad9Test
https://doi.org/10.1007/s42000-021-00287-1Test

المؤلفون: Roberto Franceschi, Giovanna Stringari, Fiorenza Soli, Annalisa Pedrolli, Evelina Maines

المصدر: Skeletal radiology. 51(12)

مصطلحات موضوعية: Infant, Newborn, Humans, Radiology, Nuclear Medicine and imaging, Cleidocranial Dysplasia

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bf6f36d67b83daad49da5ea900a1380Test
https://pubmed.ncbi.nlm.nih.gov/35727340Test

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

المؤلفون: Roberto Franceschi, Giovanna Stringari, Fiorenza Soli, Annalisa Pedrolli, Evelina Maines

المصدر: Skeletal Radiology. 51:2321-2322

مصطلحات موضوعية: Fractures, Bone, Infant, Newborn, Humans, Radiology, Nuclear Medicine and imaging, Clavicle

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd99705eb184cd6013ae886dd267202bTest
https://doi.org/10.1007/s00256-022-04096-4Test

المؤلفون: Alessandro Iodice, Costanza Giannelli, Fiorenza Soli, Antonella Riva, Pasquale Striano

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

المؤلفون: Antonio Percesepe, Luca Maria Rocchetti, Vera Uliana, Giovanni Ponti, Matteo Riva, Simona Filomena Madeo, Claudio Graziano, Livia Garavelli, Enrico Grosso, Edoardo Caleffi, Stefania Bigoni, Davide Martorana, Elena Boschi, Diana Carli, Matteo Goldoni, Francesco Pisani, Fiorenza Soli, Luca Sangiorgi

مصطلحات موضوعية: Proband, Male, Cancer Research, Neurofibromatosis 1, Genotype, genotype/phenotype, Neurofibromatosis type I, NF1 gene pathogenic variants, Disease, Biology, Neoplasms, Genes, Neurofibromatosis 1, Genetics, medicine, Humans, Gene, Genetic Association Studies, Retrospective Studies, Neurofibromin 1, Cancer, medicine.disease, Phenotype, Mutation, Microsatellite, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e1be9bb7262cf1f7213dac2608799d1Test
https://hdl.handle.net/11573/1670079Test

المؤلفون: Ahmed Al-Rikabi, Niels Tommerup, Krystyna H. Chrzanowska, Nehir Edibe Kurtas, Paolo Reho, Daniela Larizza, Orsetta Zuffardi, Lusine Nazaryan-Petersen, Aldesia Provenzano, Teresa Mattina, Fiorenza Soli, Massimo Delledonne, Luciano Xumerle, Thomas Liehr, Federica Natacci, Edoardo Errichiello, Emmanouil Manolakos, Silvana Guerneri, Maria Clara Bonaglia, Alfredo Brusco, Albert Schinzel, Lorena Leonardelli, Sabrina Giglio

المساهمون: University of Zurich, Kurtas, Nehir Edibe

مصطلحات موضوعية: 2716 Genetics (clinical), 10039 Institute of Medical Genetics, 610 Medicine & health, Trisomy, chromothripsis, evolutionary trade-off, maternal meiotic nondisjunction, small supernumerary marker chromosome (sSMC), whole genome paired-end sequencing (WGS), Biology, Chromosomes, 03 medical and health sciences, 1311 Genetics, Meiosis, Prenatal Diagnosis, Genetics, Homologous chromosome, medicine, Humans, Supernumerary, Alleles, In Situ Hybridization, Fluorescence, Genetics (clinical), 030304 developmental biology, Chromosome Aberrations, Comparative Genomic Hybridization, 0303 health sciences, Chromothripsis, Mosaicism, 030305 genetics & heredity, Haplotype, Chromosome, medicine.disease, Phenotype, Haplotypes, Nondisjunction, 570 Life sciences, biology, Female, Maternal Inheritance, Maternal Age

وصف الملف: Kurtas_NE_et_al,_Small_supernumerary_marker_chromosomes.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2a7e254bb5ee77041c542adf3c6cbb3Test
http://hdl.handle.net/11562/1010895Test