المؤلفون: Luca Bedon, Josef Vuch, Simeone Dal Monego, Germana Meroni, Vanna Pecile, Danilo Licastro

المصدر: BioTechniques, Vol 70, Iss 2, Pp 81-88 (2021)

مصطلحات موضوعية: cell-free DNA, fetal fraction percentage, fetal fraction prediction model, microchip-based capillary electrophoresis, noninvasive prenatal testing, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0736-6205; https://doaj.org/toc/1940-9818

URL الوصول: https://doaj.org/article/935832149f3e497bad86458cd0b2aab6

المؤلفون: Lorenzo Monasta, Manuela Giangreco, Emanuele Ancona, Fabio Barbone, Elisa Bet, Pierino Boschian-Bailo, Giovanna Cacciaguerra, Angelo Cagnacci, Melania Canton, Maddalena Casarotto, Manola Comar, Simona Contardo, Michela De Agostini, Francesco De Seta, Giovanni Del Ben, Carla Di Loreto, Lorenza Driul, Stefano Facchin, Roberta Giornelli, Annalisa Ianni, Santo La Valle, Ambrogio Pietro Londero, Marciano Manfè, Gianpaolo Maso, Raffaela Mugittu, Monica Olivuzzi, Maria Orsaria, Vanna Pecile, Roberta Pinzano, Francesco Pirrone, Mariachiara Quadrifoglio, Giuseppe Ricci, Luca Ronfani, Tiziana Salviato, Elisa Sandrigo, Silvia Smiroldo, Alice Sorz, Tamara Stampalija, Marianela Urriza, Michele Vanin, Giuseppina Verardi, Salvatore Alberico

المصدر: BMC Pregnancy and Childbirth, Vol 20, Iss 1, Pp 1-10 (2020)

مصطلحات موضوعية: Intrauterine death, Stillbirth, Small for gestational age, Gynecology and obstetrics, RG1-991

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12884-020-03074-9; https://doaj.org/toc/1471-2393

URL الوصول: https://doaj.org/article/ffd069ea6f44461c92de98b4fd4b5041

المؤلفون: Ilaria Catusi, Maria Paola Recalcati, Ilaria Bestetti, Maria Garzo, Chiara Valtorta, Melissa Alfonsi, Alberta Alghisi, Stefania Cappellani, Rosario Casalone, Rossella Caselli, Caterina Ceccarini, Carlo Ceglia, Anna Maria Ciaschini, Domenico Coviello, Francesca Crosti, Annamaria D'Aprile, Antonella Fabretto, Rita Genesio, Marzia Giagnacovo, Paola Granata, Ilaria Longo, Michela Malacarne, Giuseppina Marseglia, Annamaria Montaldi, Anna Maria Nardone, Chiara Palka, Vanna Pecile, Chiara Pessina, Diana Postorivo, Serena Redaelli, Alessandra Renieri, Chiara Rigon, Fabiola Tiberi, Mariella Tonelli, Nicoletta Villa, Anna Zilio, Daniela Zuccarello, Antonio Novelli, Lidia Larizza, Daniela Giardino

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)

مصطلحات موضوعية: Chromosomal microarray analysis (CMA), clinical marker identification, detection rate, pathogenic CNV, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/dcd2b41af7c54fef9ac5273be374d880

المؤلفون: Anna Morgan, Stefania Lenarduzzi, Stefania Cappellani, Vanna Pecile, Marcello Morgutti, Eva Orzan, Sara Ghiselli, Umberto Ambrosetti, Marco Brumat, Poornima Gajendrarao, Martina La Bianca, Flavio Faletra, Enrico Grosso, Fabio Sirchia, Alberto Sensi, Claudio Graziano, Marco Seri, Paolo Gasparini, Giorgia Girotto

المصدر: Frontiers in Genetics, Vol 9 (2018)

مصطلحات موضوعية: targeted re-sequencing, SNP arrays, hereditary hearing loss, italian families, molecular diagnosis, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2018.00681/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/4aac6c1292fa4eeebf88317e738de9f8

المؤلفون: Laura Travan, Maria Santa Rocca, Francesca Buonomo, Lisa Cleva, Vanna Pecile, Angela De Cunto

المصدر: Journal of Investigative Medicine High Impact Case Reports, Vol 3 (2015)

مصطلحات موضوعية: Medicine (General), R5-920, Pathology, RB1-214

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-7096

URL الوصول: https://doaj.org/article/73268180c450435f88ce198921ba00c0

المؤلفون: Elisa Colombo, Andrea Locatelli, Laura Cubells Sánchez, Sara Romeo, Nursel Elcioglu, Isabelle Maystadt, Altea Esteve Martínez, Alessandra Sironi, Laura Fontana, Palma Finelli, Cristina Gervasini, Vanna Pecile, Lidia Larizza

المصدر: International Journal of Molecular Sciences; Volume 19; Issue 4; Pages: 1103

مصطلحات موضوعية: Rothmund-Thomson syndrome, RECQL4, clinical expressivity, transcript analysis, osteosarcoma outcome

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms19041103

الاتاحة: https://doi.org/10.3390/ijms19041103

المؤلفون: Roberto Giorda, Maria Clara Bonaglia, Philippos C. Patsalis, Debora Vergani, Diane N Abuelo, María Ángeles Mori, Marilena Carmela Di Giacomo, Julián Nevado, Fabrizia Franchi, Vanna Pecile, Mana M. Mehrjouy, Giancarlo Discepoli, Carolina Sismani, Andressa Pereira Gonçalves, Sabrina Giglio, Silvana Beri, Ivana Ricca, Francesca Novara, Micheala A. Aldred, Paolo Reho, Edoardo Errichiello, Aldesia Provenzano, Cíntia Barros Santos-Rebouças, Sara Bertuzzo, Nehir Edibe Kurtas, Orsetta Zuffardi, Niels Tommerup

المصدر: Bonaglia, M C, Kurtas, N E, Errichiello, E, Bertuzzo, S, Beri, S, Mehrjouy, M M, Provenzano, A, Vergani, D, Pecile, V, Novara, F, Reho, P, Di Giacomo, M C, Discepoli, G, Giorda, R, Aldred, M A, Santos-Rebouças, C B, Goncalves, A P, Abuelo, D N, Giglio, S, Ricca, I, Franchi, F, Patsalis, P, Sismani, C, Morí, M A, Nevado, J, Tommerup, N & Zuffardi, O 2018, ' De novo unbalanced translocations have a complex history/aetiology ', Human Genetics, vol. 137, no. 10, pp. 817-829 . https://doi.org/10.1007/s00439-018-1941-9
Human Genetics

مصطلحات موضوعية: Male, 0301 basic medicine, Trisomy rescue, DNA End-Joining Repair, Telomere capture, Chromosomal translocation, Biology, Translocation, Genetic, 03 medical and health sciences, Dicentric chromosome, Meiosis, Parental origin, Gene duplication, Genetics, Chromothripsis, Mosaicism, Female, Humans, Recombinational DNA Repair, Genetics (clinical), Haplotype, Chromosome, Telomere, 030104 developmental biology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcd55101cee263e3348aa601fc46068a
https://doi.org/10.1007/s00439-018-1941-9

المؤلفون: Donatella Milani, Angelo Selicorni, Vanna Pecile, Anna Cereda, Silvia Maitz, C. Faré, Pasqualina D'Ursi, A. Seresini, Laura Fontana, Monica Miozzo, Silvia Motta, Silvia Tabano, Mariarosaria Calvello, Maria Francesca Bedeschi, Silvia M. Sirchia, Faustina Lalatta, Alessandro Orro

المصدر: Epigenetics
Epigenetics 13 (2018): 897–909. doi:10.1080/15592294.2018.1514230
info:cnr-pdr/source/autori:Fontana, L.; Bedeschi, M. F.; Maitz, S.; Cereda, A.; Fare, C.; Motta, S.; Seresini, A.; D'Ursi, P.; Orro, A.; Pecile, V.; Calvello, M.; Selicorni, A.; Lalatta, F.; Milani, D.; Sirchia, S. M.; Miozzo, M.; Tabano, S./titolo:Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders/doi:10.1080%2F15592294.2018.1514230/rivista:Epigenetics/anno:2018/pagina_da:897/pagina_a:909/intervallo_pagine:897–909/volume:13

مصطلحات موضوعية: Male, 0301 basic medicine, Cancer Research, Beckwith-Wiedemann Syndrome, Adolescent, epigenotype-phenotype correlations, Kruppel-Like Transcription Factors, Mutation, Missense, Locus (genetics), 030105 genetics & heredity, Gene mutation, Biology, Genomic Imprinting, Young Adult, 03 medical and health sciences, targeted next-generation sequencing, medicine, Humans, Epigenetics, Imprinting (psychology), Child, Molecular Biology, Adaptor Proteins, Signal Transducing, Genetics, Chromosomes, Human, Pair 15, Silver–Russell syndrome, Genetic disorder, multilocus imprinting disturbances, Infant, DNA Methylation, medicine.disease, Silver-Russell Syndrome, 030104 developmental biology, Differentially methylated regions, Child, Preschool, DNA methylation, Female, Apoptosis Regulatory Proteins, Research Paper

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d740a7db16922bcd8cb1215fdbb3900
https://doi.org/10.1080/15592294.2018.1514230

المؤلفون: Vanna Pecile, Didier Lacombe, Antonella Fabretto, Cécile Boucher, Clémence Vanlerberghe, Benoit Arveiler, Emma L. Baple, Nada Houcinat, Kate Robertshaw, Patricia Fergelot, Gemma Poke, Bruno Delobel, Aurélien Trimouille, Colina McKeown, Joris Andrieux, Paolo Gasparini, Bénédicte Duban, Jérôme Toutain, Marco Carrozzi, Mathilde Nizon, Sébastien Moutton, Marie Vincent, Sahar Mansour, Cédric Le Caignec, Caroline Rooryck, Eve Fifield, Marie Laure Vuillaume

المساهمون: Trimouille, Aurélien, Houcinat, Nada, Vuillaume, Marie-Laure, Fergelot, Patricia, Boucher, Cécile, Toutain, Jérôme, Caignec, Cédric Le, Vincent, Marie, Nizon, Mathilde, Andrieux, Jori, Vanlerberghe, Clémence, Delobel, Bruno, Duban, Bénédicte, Mansour, Sahar, Baple, Emma, Mckeown, Colina, Poke, Gemma, Robertshaw, Kate, Fifield, Eve, Fabretto, Antonella, Pecile, Vanna, Gasparini, Paolo, Carrozzi, Marco, Lacombe, Didier, Arveiler, Benoît, Rooryck, Caroline, Moutton, Sébastien

المصدر: European Journal of Human Genetics. 26:85-93

مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, Genetics, Genetics (clinical), Short stature, Article, 03 medical and health sciences, 0302 clinical medicine, Genetic, Intellectual Disability, Chromosome Duplication, Gene duplication, Intellectual disability, medicine, Humans, Abnormalities, Multiple, Copy-number variation, Child, biology, Sotos syndrome, Macrocephaly, Infant, Syndrome, medicine.disease, NFIX, NFI Transcription Factors, 030104 developmental biology, Child, Preschool, Chromosomal region, biology.protein, Female, medicine.symptom, Chromosomes, Human, Pair 19, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::461ebe0bbb2bd2abae2425a08268180f
https://doi.org/10.1038/s41431-017-0037-7

المؤلفون: Luca Bedon, Vanna Pecile, Germana Meroni, Josef Vuch, Simeone Dal Monego, Danilo Licastro

المساهمون: Bedon, Luca, Vuch, Josef, Monego, Simeone Dal, Meroni, Germana, Pecile, Vanna, Licastro, Danilo

مصطلحات موضوعية: 0301 basic medicine, Fetal dna, microchip-based capillary electrophoresi, noninvasive prenatal testing, Maternal cell free DNA, Biology, General Biochemistry, Genetics and Molecular Biology, Andrology, cell-free DNA, 03 medical and health sciences, 0302 clinical medicine, Fetus, fetal fraction prediction model, Pregnancy, Prenatal Diagnosis, Distribution (pharmacology), fetal fraction percentage, microchip-based capillary electrophoresis, Humans, Fraction (mathematics), 030219 obstetrics & reproductive medicine, DNA, Sequence Analysis, DNA, Blood draw, 030104 developmental biology, Cell-free fetal DNA, Circulating DNA, Female, Cell-Free Nucleic Acids, Biotechnology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24d7a39f741df185c78ebc68a68fa11a
https://hdl.handle.net/11368/2977249

المؤلفون: Flavio Faletra, Vanna Pecile, Maria Dolores Perrone, Katy Vecchiato, Andrea Taddio, Roberta Bottega, Subrata Sabui, Hamid M. Said

المساهمون: Bottega, R., Perrone, M. D., Vecchiato, K., Taddio, A., Sabui, S., Pecile, V., Said, H. M., Faletra, F.

مصطلحات موضوعية: 0301 basic medicine, Male, Translational efficiency, Adolescent, Protein Conformation, Messenger, Encephalopathy, Disease, 030105 genetics & heredity, Bioinformatics, Mitochondrial Membrane Transport Proteins, Article, Brain Diseases, Humans, Microcephaly, Mutation, RNA, Messenger, Thiamine, Thiamine Deficiency, Genetic Predisposition to Disease, 03 medical and health sciences, Genetics, medicine, Gene, Genetics (clinical), Functional analysis, business.industry, Brain Disease, Mitochondrial Membrane Transport Protein, medicine.disease, 030104 developmental biology, Peripheral neuropathy, Mutation (genetic algorithm), RNA, business, Human

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7543600aba07b3584a6ed5fd4e60c0cb
https://www.nature.com/articles/s10038-019-0666-5#Sec17

المؤلفون: Chiara Barone, Rosa Busuito, Laura De Grada, Stefania Cappellani, Daniela Giardino, Vanna Pecile, Ilaria Catusi, Maria Garzo, Ornella Rodeschini, Anna Maria Ciaschini, Lidia Larizza, Anna Gulisano, Elisabetta Malpezzi, Maria Carla Pittalis, Nicola Beltrami, L. Romitti, Sabine Stioui, Maria Paola Recalcati, Daniela Colombo

المصدر: European journal of medical genetics. 63(2)

مصطلحات موضوعية: Infertility, Adult, Male, Sterility, Population, Chromosomal translocation, Chromosome Disorders, Biology, Polymorphism, Single Nucleotide, Translocation, Genetic, Exome Sequencing, Genetics, medicine, Humans, Genetic Predisposition to Disease, education, Reproductive History, Genetics (clinical), Genetic Association Studies, Pregnancy, education.field_of_study, Mosaicism, High-Throughput Nucleotide Sequencing, Karyotype, General Medicine, Middle Aged, medicine.disease, Phenotype, Abortion, Spontaneous, Fertility, Italy, Karyotyping, Female, Reciprocal, Genome-Wide Association Study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d443a0dc57a206a2517a539a21b781cf
https://pubmed.ncbi.nlm.nih.gov/30858057

المؤلفون: Laura Cubells Sánchez, Laura Fontana, Sara G. Romeo, A. Sironi, Palma Finelli, Vanna Pecile, Lidia Larizza, Isabelle Maystadt, Altea Esteve Martínez, Andrea Locatelli, Cristina Gervasini, Nursel Elcioglu, Elisa Colombo

المساهمون: Colombo, Elisa A., Locatelli, Andrea, Cubells Sanchez, Laura, Romeo, Sara, Elcioglu, Nursel H., Maystadt, Isabelle, Esteve Martinez, Altea, Sironi, Alessandra, Fontana, Laura, Finelli, Palma, Gervasini, Cristina, Pecile, Vanna, Larizza, Lidia

المصدر: International Journal of Molecular Sciences, Vol 19, Iss 4, p 1103 (2018)
International Journal of Molecular Sciences
International Journal of Molecular Sciences; Volume 19; Issue 4; Pages: 1103

مصطلحات موضوعية: Male, 0301 basic medicine, PREDICTION, clinical expressivity, VARIANTS, 030105 genetics & heredity, Genome, lcsh:Chemistry, Medicine, DAMAGE REPAIR, Child, Rothmund–Thomson syndrome, lcsh:QH301-705.5, Spectroscopy, Genetics, Rothmund-Thomson syndrome, RecQ Helicases, Homozygote, LOCALIZATION, ASSOCIATION, General Medicine, Phenotype, Pedigree, Computer Science Applications, DISEASES, Female, Allelic heterogeneity, Adult, osteosarcoma outcome, RECQL4, transcript analysis, Adolescent, Article, Catalysis, Inorganic Chemistry, 03 medical and health sciences, Cell Line, Tumor, BALLER-GEROLD-SYNDROME, Humans, RECQL4 MUTATIONS, Genetic variability, HELICASE, Physical and Theoretical Chemistry, Molecular Biology, Gene, business.industry, Organic Chemistry, Cancer, medicine.disease, 030104 developmental biology, lcsh:Biology (General), lcsh:QD1-999, OSTEOSARCOMA, Mutation, business, Literature survey

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26cccec40a9888274fd0d703ed99e3be
http://www.mdpi.com/1422-0067/19/4/1103

المؤلفون: Maria Santa Rocca, Elena Speltra, Lisa Cleva, Alberto Ferlin, Vanna Pecile, Carlo Foresta, Riccardo Selice, A. Di Mambro

المصدر: Andrology. 4:328-334

مصطلحات موضوعية: Male, 0301 basic medicine, Genotype, Microarrays, Urology, Endocrinology, Diabetes and Metabolism, Pseudoautosomal region, Gene Dosage, Klinefelter's syndrome, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, Klinefelter Syndrome, 0302 clinical medicine, Endocrinology, medicine, Humans, SNP, Supernumerary, Copy-number variation, X chromosome, Genetics, Chromosomes, Human, X, 030219 obstetrics & reproductive medicine, Copy number variation, Reproductive Medicine, Karyotype, medicine.disease, Diabetes and Metabolism, Phenotype, 030104 developmental biology, Female, Klinefelter syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f594fe523d0eef7ceadf3bd7db98fe8
https://doi.org/10.1111/andr.12146

المؤلفون: Aldo Skabar, Vanna Pecile, Antonella Fabretto, Chiara Belcaro, Giovanna Morini, Savina Dipresa

المصدر: Gene. 565:146-149

مصطلحات موضوعية: Male, Genetics, Delta Catenin, Catenins, Karyotype, General Medicine, Biology, medicine.disease, Monogenic disease, Intellectual Disability, Karyotyping, Intellectual disability, medicine, Chromosomes, Human, Pair 5, Humans, In patient, Gene Deletion, Oligonucleotide Array Sequence Analysis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e14b3519b2c64b059038c2ead74870c5
https://doi.org/10.1016/j.gene.2015.03.054

المؤلفون: Vanna Pecile, Maria Dolores Perrone, Paolo Gasparini, Flavio Faletra, Adamo Pio D'Adamo, Maria Santa Rocca, Marco Carrozzi

المساهمون: Flavio, Faletra, D'Adamo, ADAMO PIO, Maria Santa, Rocca, Marco, Carrozzi, Maria Dolores, Perrone, Vanna, Pecile, Gasparini, Paolo

المصدر: American Journal of Medical Genetics Part A. :461-464

مصطلحات موضوعية: Xp22.31, genetics, Genetics, Chromosome Band, Maternal and child health, Chromosome Breakpoints, Karyotype, Biology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c40f4c882ecbaa2c12821f9eb581a0c7
https://doi.org/10.1002/ajmg.a.34398

المؤلفون: Angela D'Eustacchio, Elisa Rubinato, Paolo Gasparini, Vanna Pecile, Flavio Faletra, Anna Morgan, Giulia Gortani

المساهمون: Elisa, Rubinato, Morgan, Anna, Angela, D'Eustacchio, Vanna, Pecile, Giulia, Gortani, Gasparini, Paolo, Flavio, Faletra

المصدر: Gene. 545:290-292

مصطلحات موضوعية: DNA Mutational Analysis, Genes, Recessive, Locus (genetics), Consanguinity, Biology, Ion Channels, Bone morphogenetic protein 1, Exon, Calcium flux, Genetics, medicine, Humans, Child, Sequence Deletion, TMEM38B, Homozygote, AR, SNP array, Exons, General Medicine, Osteogenesis Imperfecta, medicine.disease, Molecular biology, Radiography, Osteogenesis imperfecta, PPIB, Female, Chromosomes, Human, Pair 19

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbef522dcc49ce2a3f844328ad2da3be
https://doi.org/10.1016/j.gene.2014.05.028

المؤلفون: Marco Seri, Vanna Pecile, Flavio Faletra, Alberto Sensi, Anna Morgan, Poornima Gajendrarao, Fabio Sirchia, Sara Ghiselli, Stefania Lenarduzzi, Martina La Bianca, Stefania Cappellani, Enrico Grosso, Claudio Graziano, Marco Brumat, Eva Orzan, Marcello Morgutti, Umberto Ambrosetti, Giorgia Girotto, Paolo Gasparini

المساهمون: Morgan, Anna, Lenarduzzi, Stefania, Cappellani, Stefania, Pecile, Vanna, Morgutti, Marcello, Orzan, Eva, Ghiselli, Sara, Ambrosetti, Umberto, Brumat, Marco, Gajendrarao, Poornima, La Bianca, Martina, Faletra, Flavio, Grosso, Enrico, Sirchia, Fabio, Sensi, Alberto, Graziano, Claudio, Seri, Marco, Gasparini, Paolo, Girotto, Giorgia

المصدر: Frontiers in Genetics, Vol 9 (2018)
Frontiers in Genetics

مصطلحات موضوعية: 0301 basic medicine, Hereditary hearing loss, Italian families, Molecular diagnosis, SNP arrays, Targeted re-sequencing, lcsh:QH426-470, Genetic counseling, Biology, 03 medical and health sciences, Genetics, medicine, SNP, hereditary hearing loss, italian families, molecular diagnosis, targeted re-sequencing, Copy-number variation, TECTA, Allele, Genetics (clinical), molecular diagnosi, Original Research, ACTG1, Genetic heterogeneity, hereditary hearing lo, medicine.disease, Uniparental disomy, italian familie, lcsh:Genetics, 030104 developmental biology, Molecular Medicine, SNP array

وصف الملف: ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbe07fd77c60b2a2e2d6f82ad603a8c7
http://hdl.handle.net/2318/1742198

المؤلفون: D. Gambel Benussi, Donatella Conconi, Nicoletta Villa, Vanna Pecile, Gianluca Tornese, Francesca Crosti, Leda Dalprà, Elena Sala

المساهمون: Villa, N, Conconi, D, Benussi, D Gambel, Tornese, G, Crosti, F, Sala, E, Dalprà, L, Pecile, V, Gambel Benussi, D, Dalpra', L

المصدر: Molecular Cytogenetics
Molecular Cytogenetics, Vol 10, Iss 1, Pp 1-7 (2017)

مصطلحات موضوعية: 0301 basic medicine, lcsh:QH426-470, Derivative chromosome, Neocentromere, Marker chromosome, Isochromosome, Case Report, Telomeric-centromeric X rearrangement, Chromosome complex rearrangement, Biology, Biochemistry, 03 medical and health sciences, Genetics, Acentric fragment, Molecular Biology, Genetics (clinical), X chromosome, Chromosomal inversion, Biochemistry (medical), Karyotype, Molecular biology, lcsh:Genetics, 030104 developmental biology, Molecular Medicine

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7595494658d826b47707daf31c5df832
https://doi.org/10.1186/s13039-017-0323-7

المؤلفون: Flavio Faletra, Paolo Gasparini, Vanna Pecile, Maria Santa Rocca, Raffaella Devescovi

المساهمون: Rocca, Maria Santa, Faletra, Flavio, Devescovi, Raffaella, Gasparini, Paolo, Pecile, Vanna

المصدر: European Journal of Medical Genetics. 56:62-65

مصطلحات موضوعية: Male, Muscle Hypotonia, Developmental Disabilitie, Developmental Disabilities, Cryptorchidism, Deletion 2p23, DTNB, SNP array, Child, Preschool, Comparative Genomic Hybridization, Facies, Humans, Infant, Phenotype, Polymorphism, Single Nucleotide, Chromosome Deletion, Chromosomes, Human, Pair 2, Genetics, Genetics (clinical), Biology, Chromosomes, Genetic, medicine, Polymorphism, Dysmorphic facial features, Child, Preschool, Gtg banding, Chromosome, Single Nucleotide, General Medicine, Facie, Hypotonia, Pair 2, Chromosomal region, medicine.symptom, Human, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::703e879f42a22b975c9f3d0290b841f7
https://doi.org/10.1016/j.ejmg.2012.10.008