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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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4دورية أكاديمية
المؤلفون: Lucía Daniela Espeche, Violeta Chiauzzi, Ianina Ferder, Mehrnoosh Arrar, Andrea Paula Solari, Carlos David Bruque, Marisol Delea, Susana Belli, Cecilia Soledad Fernández, Noemí Delia Buzzalino, Eduardo Hernán Charreau, Liliana Beatriz Dain
المصدر: Genes, Vol 8, Iss 8, p 194 (2017)
مصطلحات موضوعية: primary ovarian insufficiency, FXPOI, FMR1 premutation, FMR2 microdeletions, premature menopause, Genetics, QH426-470
وصف الملف: electronic resource
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5دورية أكاديمية
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
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6
المؤلفون: Melisa Taboas, Liliana Dain, Lucía D. Espeche, Leandro Simonetti, Mónica C. Fabbro, Jorge E. Kolomenski, Alejandro D. Nadra, Carlos David Bruque, Marisol Delea
المصدر: CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICETمصطلحات موضوعية: ASSOCIATED PHENOTYPES, Amino Acid Motifs, Population, CURATED DATABASE, Computational biology, GENETIC VARIANT EVALUATION, Biology, Protein Structure, Secondary, 03 medical and health sciences, Databases, Genetic, Genetics, Humans, Missense mutation, Short linear motif, LINEAR MOTIF, education, Gene, Transcription factor, Genetics (clinical), 030304 developmental biology, 0303 health sciences, education.field_of_study, 030305 genetics & heredity, purl.org/becyt/ford/3.1 [https], Phenotype, NKX2-5, Mutation, Homeobox Protein Nkx-2.5, Homeobox, purl.org/becyt/ford/3 [https], Function (biology)
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8cc07a9ce0f71f2dd89d73c37dcd3f7Test
https://doi.org/10.1002/humu.24030Test -
7
المؤلفون: Adriana Oneto, Liliana Alba, Mirta Stivel, Melisa Taboas, Susana Belli, Liliana Dain, Noemí Buzzalino, Lucía D. Espeche, Carlos David Bruque, Belén Benavides-Mori, Marisol Delea, Cecilia Fernández, Titania Pasqualini, Jorge E. Kolomenski
المصدر: Clinical Endocrinology. 93:19-27
مصطلحات موضوعية: medicine.medical_specialty, Genotype, Endocrinology, Diabetes and Metabolism, Population, 030209 endocrinology & metabolism, Context (language use), 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, Humans, Congenital adrenal hyperplasia, Multiplex ligation-dependent probe amplification, Allele, education, Gene, Alleles, Southern blot, Genetics, education.field_of_study, Adrenal Hyperplasia, Congenital, biology, 21-Hydroxylase, medicine.disease, Phenotype, 030220 oncology & carcinogenesis, Mutation, biology.protein, Steroid 21-Hydroxylase
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f16df2aa83ea20702a3a093dcb0ee5adTest
https://doi.org/10.1111/cen.14190Test -
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المؤلفون: Rodrigo Mendez, Monica Rittler, Marisol Delea, Liliana Dain
المصدر: Clinical Dysmorphology. 29:42-45
مصطلحات موضوعية: Heart Defects, Congenital, Joint Instability, Male, CIENCIAS MÉDICAS Y DE LA SALUD, Genética Humana, Blepharophimosis, Pathology and Forensic Medicine, Frameshift mutation, Blepharophimosis -Ptosis-Epicanthus inversus, Intellectual Disability, Exome Sequencing, Cryptorchidism, Congenital Hypothyroidism, Humans, Medicine, Frameshift Mutation, Genetics (clinical), Exome sequencing, Histone Acetyltransferases, Genetics, business.industry, Congenital heart defect, Infant, Newborn, Facies, Long thumbs and halluces, General Medicine, Medicina Básica, Pediatrics, Perinatology and Child Health, Say-Barber-Biesecker-Young-Simpson Syndrome, Anatomy, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0535bf4625613a846a2bf9f3390c4b60Test
https://doi.org/10.1097/mcd.0000000000000270Test -
9
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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::38567fd689c5f70a7f71fe8a73110bf8Test
http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S1853-810X2021000100081&lng=en&tlng=enTest -
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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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce842a49cc3448f3c56496ad5e095dd7Test
https://doi.org/10.1159/000504238Test