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1دورية أكاديمية
المؤلفون: Marisol Delea, Soledad Massara, Carlos David Bruque, Lucía Daniela Espeche, Melisa Ivana Taboas, Pablo Barbero, María Paz Bidondo, Rosa Liascovich, Boris Groisman, Viviana Cosentino, Celeste Martinoli, Lilian Furforo, Mónica Ritler, Emilio Kolomenski, Jaen Oliveri, Paloma Brun, Sandra Rozental, Liliana Beatriz Dain
المصدر: Revista Argentina de Salud Pública, Vol 13, Pp 1-8 (2021)
مصطلحات موضوعية: Medicine (General), R5-920, Public aspects of medicine, RA1-1270
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Marisol Delea, Lucia S. Massara, Lucia D. Espeche, María Paz Bidondo, Pablo Barbero, Jaen Oliveri, Paloma Brun, Mónica Fabro, Micaela Galain, Cecilia S. Fernández, Melisa Taboas, Carlos D. Bruque, Jorge E. Kolomenski, Agustín Izquierdo, Ariel Berenstein, Viviana Cosentino, Celeste Martinoli, Mariana Vilas, Mónica Rittler, Rodrigo Mendez, Lilian Furforo, Rosa Liascovich, Boris Groisman, Sandra Rozental, Liliana Dain, on behalf of the PID ACM-CC Group
المصدر: Genes, Vol 13, Iss 7, p 1172 (2022)
مصطلحات موضوعية: multiple congenital anomalies, congenital heart disease, chromosomal abnormalities, array-CGH, next-generation sequencing, Genetics, QH426-470
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Marisol Delea, Lucía D. Espeche, Carlos D. Bruque, María Paz Bidondo, Lucía S. Massara, Jaen Oliveri, Paloma Brun, Viviana R. Cosentino, Celeste Martinoli, Norma Tolaba, Claudina Picon, María Eugenia Ponce Zaldua, Silvia Ávila, Viviana Gutnisky, Myriam Perez, Lilian Furforo, Noemí D. Buzzalino, Rosa Liascovich, Boris Groisman, Mónica Rittler, Sandra Rozental, Pablo Barbero, Liliana Dain
المصدر: Genes, Vol 9, Iss 9, p 454 (2018)
مصطلحات موضوعية: conotruncal congenital heart defects, 22q11 deletion, copy number variations, Genetics, QH426-470
وصف الملف: electronic resource
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المؤلفون: Lucía D. Espeche, Sandra Rozental, Jaen Oliveri, Paloma Brun, Lilian Furforo, Lucía S. Massara, Marisol Delea, Carlos David Bruque, Liliana Dain
المصدر: Cytogenetic and Genome Research. 159:137-142
مصطلحات موضوعية: Proband, Sex Chromosome Disorders of Sex Development, Trisomy, Biology, 03 medical and health sciences, Genetics, medicine, Humans, Abnormalities, Multiple, Molecular Biology, Sex Chromosome Aberrations, Genetics (clinical), X chromosome, 030304 developmental biology, Chromosomes, Human, Pair 14, Chromosomes, Human, X, 0303 health sciences, Mosaicism, Meiosis II, 030305 genetics & heredity, Infant, Newborn, Chromosome, Karyotype, medicine.disease, Nondisjunction, Genetic marker, Female
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce842a49cc3448f3c56496ad5e095dd7
https://doi.org/10.1159/000504238 -
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المؤلفون: Marisol Delea, Soledad Massara, Carlos David Bruque, Lucía Daniela Espeche, Melisa Ivana Taboas, Pablo Barbero, María Paz Bidondo, Rosa Liascovich, Boris Groisman, Viviana Cosentino, Celeste Martinoli, Lilian Furforo, Mónica Ritler, Emilio Kolomenski, Jaen Oliveri, Paloma Brun, Sandra Rozental, Liliana Beatriz Dain
المصدر: Revista Argentina de Salud Pública, Volume: 13, Pages: 81-90, Published: FEB 2021
Revista Argentina de Salud Pública, Vol 13, Pp 1-8 (2021)مصطلحات موضوعية: Genética médica, lcsh:R5-920, lcsh:Public aspects of medicine, Desbalances genéticos, Medical genetics, Chromosome anomalies, lcsh:RA1-1270, lcsh:Medicine (General), Anomalías cromosómicas, Cardiopatías congénitas, Congenital heart diseases, Genomic imbalances
وصف الملف: text/html
URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::38567fd689c5f70a7f71fe8a73110bf8
http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S1853-810X2021000100081&lng=en&tlng=en -
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المؤلفون: Jaen Oliveri, Sandra Rozental, Viviana Cosentino, Claudina Picon, Norma Tolaba, Lilian Furforo, Celeste Martinoli, Boris Groisman, Lucía D. Espeche, Lucía S. Massara, Pablo Barbero, Viviana Gutnisky, Marisol Delea, Carlos David Bruque, Paloma Brun, Myriam Perez, Monica Rittler, María Eugenia Ponce Zaldua, Rosa Liascovich, Noemí Buzzalino, María Paz Bidondo, Silvia Ávila, Liliana Dain
المصدر: Genes
Genes, Vol 9, Iss 9, p 454 (2018)
Volume 9
Issue 9مصطلحات موضوعية: 0301 basic medicine, TBX1, Pediatrics, medicine.medical_specialty, lcsh:QH426-470, Disease, conotruncal congenital heart defects, Article, 03 medical and health sciences, 22q11 Deletion Syndrome, Genetics, Medicine, Copy-number variation, Multiplex ligation-dependent probe amplification, Genetics (clinical), business.industry, 22q11 deletion, Transposition of the great vessels, medicine.disease, lcsh:Genetics, 030104 developmental biology, copy number variations, Great arteries, Etiology, cardiovascular system, business
وصف الملف: application/pdf
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المؤلفون: Sandra Colli, Eduardo Rojo Pisarello, Irma Slavutsky, Marcela Maidana, Javier Bordone, Carlos Martín, Lilian Furforo
المصدر: Cancer genetics. 209(4)
مصطلحات موضوعية: Male, Cancer Research, medicine.medical_specialty, Pathology, CIENCIAS MÉDICAS Y DE LA SALUD, Adolescent, SPECTRAL KARYOTYPE, Inmunología, Chromosomal translocation, Biology, Translocation, Genetic, T Acute Lymphoblastic Leukemia, 03 medical and health sciences, Cytogenetics, 0302 clinical medicine, FISH, Complex Karyotype, Genetics, medicine, Humans, T-CELL ACUTE LEUKEMIA/LYMPHOMA, Molecular Biology, Acute leukemia, medicine.diagnostic_test, Chromosomes, Human, Pair 11, Karyotype, Precursor Cell Lymphoblastic Leukemia-Lymphoma, medicine.disease, CYTOGENETICS, Lymphoma, Medicina Básica, 030220 oncology & carcinogenesis, Immunology, Chromosomes, Human, Pair 4, 030215 immunology, Fluorescence in situ hybridization
وصف الملف: application/pdf
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المؤلفون: Irma Slavutsky, Monica Rittler, Lilian Furforo
المصدر: American Journal of Medical Genetics. 64:551-555
مصطلحات موضوعية: Developmental Disabilities, Macrocephaly, Trisomy, Anatomy, Biology, medicine.disease, Narrow palate, Palpebral fissure, Chromosomes, Human, Pair 1, Child, Preschool, Karyotyping, Gene duplication, medicine, Humans, Female, Tandem exon duplication, medicine.symptom, Abnormality, Genetics (clinical), Facial symmetry
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55d1e8df084c733bfc457724b6eacd77
https://doi.org/10.1002/(sici)1096-8628(19960906)64:4<551::aid-ajmg5>3.0.co;2-s