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

Relation: http://rasp.msal.gov.ar/rasp/articulos/vol13/AO_Bruquee31.pdf; https://doaj.org/toc/1852-8724; https://doaj.org/toc/1853-810X

URL الوصول: https://doaj.org/article/ba1122a840d348e9829ccd12849bc8ff

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 on behalf of the PID ACM-CC Group

المصدر: Genes; Volume 13; Issue 7; Pages: 1172

مصطلحات موضوعية: multiple congenital anomalies, congenital heart disease, chromosomal abnormalities, array-CGH, next-generation sequencing

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes13071172

الاتاحة: https://doi.org/10.3390/genes13071172

المؤلفون: Marisol Delea, Lucía Massara, Lucía Espeche, María Bidondo, Pablo Barbero, Jaen Oliveri, Paloma Brun, Mónica Fabro, Micaela Galain, Cecilia Fernández, Melisa Taboas, Carlos Bruque, Emilio Kolomenski, Agustín Izquierdo, Ariel Berenstein, Viviana Cosentino, María Martinoli, Mariana Vilas, Mónica Rittler, Rodrigo Mendez, Lilian Furforo, Rosa Liascovich, Boris Groisman, Sandra Rozental, Liliana Dain, the PID ACM-CC Group

المصدر: Proceedings; Volume 76; Issue 1; Pages: 8

مصطلحات موضوعية: congenital anomalies, multiple congenital anomalies, congenital heart disease, chromosomal abnormalities, array-CGH, next generation sequencing

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/IECGE-07151

الاتاحة: https://doi.org/10.3390/IECGE-07151

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; Volume 9; Issue 9; Pages: 454

مصطلحات موضوعية: conotruncal congenital heart defects, 22q11 deletion, copy number variations

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes9090454

الاتاحة: https://doi.org/10.3390/genes9090454

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

المؤلفون: Boris, Groisman, Pablo, Barbero, Rosa, Liascovich, Paloma, Brun, María P, Bidondo

المصدر: Archivos argentinos de pediatria. 120(1)

مصطلحات موضوعية: Heart Defects, Congenital, Pregnancy, Argentina, Infant, Newborn, Prevalence, Humans, Female, Oximetry, Registries, United States

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::f0e9d4f34384ab6a227bf7a3389bcce5
https://pubmed.ncbi.nlm.nih.gov/35068114

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

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 9

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f79b0ab755137902f740942c5c0e4f8b
http://europepmc.org/articles/PMC6162499

المؤلفون: Giuseppe Merla, Andrea Solari, María Soledad Andersen, Cecilia Cocah, Sebastián Menazzi, Paloma Brun

المصدر: Archivos Argentinos de Pediatria. 112

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::dac80bc645c6b8bf99f5216d0d099a22
https://doi.org/10.5546/aap.2014.e13

المؤلفون: María Soledad, Andersen, Sebastián, Menazzi, Paloma, Brun, Cecilia, Cocah, Giuseppe, Merla, Andrea, Solari

المصدر: Archivos argentinos de pediatria. 112(1)

مصطلحات موضوعية: Phenotype, Vestibular Diseases, Child, Preschool, Face, Humans, Abnormalities, Multiple, Female, Child, Hematologic Diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::f3f0f2eb4fe9f204a989785e8c64f5cf
https://pubmed.ncbi.nlm.nih.gov/24566779