-
1
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 -
2
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 -
3
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 -
4
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 -
5
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 -
6
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 -
7
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 -
8
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 -
9
المؤلفون: Fiorenza Soli, Anna Baroncini, Pia Castelluccio, Brunella Franco, Manuela Morleo
المساهمون: Baroncini, A, Castelluccio, P, Morleo, M, Soli, F, Franco, Brunella, Franco, B
المصدر: American journal of medical genetics. Part A. (1)
مصطلحات موضوعية: Pathology, medicine.medical_specialty, DNA Mutational Analysis, Biology, X-inactivation, Bone and Bones, Clinical report, X Chromosome Inactivation, Genetics, medicine, Humans, Abnormalities, Multiple, Genetics (clinical), X chromosome, Bone Diseases, Developmental, Digital fibromatosis, Proteins, Genetic Diseases, X-Linked, medicine.disease, Terminal osseous dysplasia with pigmentary defects, Pedigree, Radiography, Dysplasia, Child, Preschool, Skin Abnormalities, Oral frenula, Female, Fibroma, Pigmentation Disorders
وصف الملف: STAMPA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99dce9848fdbe47c5a9bee1759032d14Test
https://pubmed.ncbi.nlm.nih.gov/17152064Test -
10
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
