المؤلفون: Lourdes Correa Brito, Ana Keselman, Florencia Villegas, Paula Scaglia, María Esnaola Azcoiti, Sebastián Castro, Nora Sanguineti, Agustín Izquierdo, Marianela Maier, Ignacio Bergadá, Claudia Arberas, Rodolfo A. Rey, María Gabriela Ropelato

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: hypogonadotropic hypogonadism, Kallmann syndrome, SIN3A gene, Witteveen–Kolk syndrome, whole-exome sequencing, case report, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1354715/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/5ca50093384a43658714a0fd86450d05

المؤلفون: Sebastián Castro, Franco G. Brunello, Gabriela Sansó, Paula Scaglia, María Esnaola Azcoiti, Agustín Izquierdo, Florencia Villegas, Ignacio Bergadá, María Gabriela Ropelato, Marcelo A. Martí, Rodolfo A. Rey, Romina P. Grinspon

المصدر: Frontiers in Pediatrics, Vol 10 (2022)

مصطلحات موضوعية: AMH, GnRH, hyposmia, Kallmann syndrome, puberty, testosterone, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2022.887658/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/ccc7fd59ba5648a2a4803ec51b501e54

المؤلفون: Ana Catalina Blazquez, Ariel José Berenstein, Carolina Torres, Agustín Izquierdo, Carol Lezama, Guillermo Moscatelli, Elena Noemí De Matteo, Mario Alejandro Lorenzetti, María Victoria Preciado

المصدر: Viruses, Vol 13, Iss 6, p 1172 (2021)

مصطلحات موضوعية: Epstein–Barr virus, next-generation sequencing, evolution rate, geographic variability, EBV Argentina, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1999-4915/13/6/1172; https://doaj.org/toc/1999-4915

URL الوصول: https://doaj.org/article/d343d0dd440741adafe7a2d1379c0241

المؤلفون: Agustín Izquierdo

المصدر: Logos, Vol 33, Iss 0 (2000)

مصطلحات موضوعية: Metaphysics, BD95-131, Philosophy (General), B1-5802

وصف الملف: electronic resource

Relation: http://revistas.ucm.es/index.php/ASEM/article/view/17504; https://doaj.org/toc/1575-6866; https://doaj.org/toc/1988-3242

URL الوصول: https://doaj.org/article/fd76c6f1262743b1961d786dc77638d7

المؤلفون: Lourdes Correa Brito, Romina P. Grinspon, Jimena Lopez Dacal, Paula Scaglia, María Esnaola Azcoiti, Agustín Izquierdo, María Gabriela Ropelato, Rodolfo A. Rey

المصدر: Journal of Personalized Medicine; Volume 13; Issue 7; Pages: 1158

مصطلحات موضوعية: 46,XY DSDs, whole exome sequencing, MYRF gene, meso/dextrocardia, OCUGS

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/jpm13071158

الاتاحة: https://doi.org/10.3390/jpm13071158

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: Lourdes Correa Brito, Ana Keselman, Florencia Villegas, Paula Scaglia, María Esnaola Azcoiti, Sebastián Castro, Nora Sanguineti, Agustín Izquierdo, Marianela Maier, Ignacio Bergadá, Claudia Arberas, Rodolfo A. Rey, María Gabriela Ropelato

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, hypogonadotropic hypogonadism, Kallmann syndrome, SIN3A gene, Witteveen–Kolk syndrome, whole-exome sequencing, case report

Relation: https://figshare.com/articles/dataset/Table2_Case_report_Novel_SIN3A_loss-of-function_variant_as_causative_for_hypogonadotropic_hypogonadism_in_Witteveen_Kolk_syndrome_xlsx/25378153

الاتاحة: https://doi.org/10.3389/fgene.2024.1354715.s004

المؤلفون: Lourdes Correa Brito, Ana Keselman, Florencia Villegas, Paula Scaglia, María Esnaola Azcoiti, Sebastián Castro, Nora Sanguineti, Agustín Izquierdo, Marianela Maier, Ignacio Bergadá, Claudia Arberas, Rodolfo A. Rey, María Gabriela Ropelato

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, hypogonadotropic hypogonadism, Kallmann syndrome, SIN3A gene, Witteveen–Kolk syndrome, whole-exome sequencing, case report

Relation: https://figshare.com/articles/dataset/DataSheet1_Case_report_Novel_SIN3A_loss-of-function_variant_as_causative_for_hypogonadotropic_hypogonadism_in_Witteveen_Kolk_syndrome_pdf/25378141

الاتاحة: https://doi.org/10.3389/fgene.2024.1354715.s001

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: Mónica Inés Natale, Graciela Beatriz Manzur, Silvina Beatriz Lusso, Eliana Cella, María Elsa Giovo, Romina Andrada, Juana Goitia, María Florencia Fernández, Patricia Silvia Della Giovanna, María José Guillamondegui, Mariángeles Domínguez, Olga Gutiérrez, Agustín Izquierdo, Heliana Hernández Herrera, Luz Graciela Velázquez Perdomo, Alicia Susana Mistchenko, Laura Elena Valinotto

المصدر: American journal of medical genetics. Part AREFERENCES. 188(11)

مصطلحات موضوعية: Collagen Type VII, Phenotype, Mutation, Genetics, Argentina, Humans, Genetics (clinical), Genetic Association Studies, Epidermolysis Bullosa Dystrophica

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90cf32db219d635cf5240550af91c966
https://pubmed.ncbi.nlm.nih.gov/35979658

المؤلفون: Rodolfo Rey, E Gabriela Sansó, Ariel José Berenstein, Analia Freire, M. Gabriela Ropelato, Agustín Izquierdo, Paula Scaglia, Franco G Brunello, Marcelo A. Martí, Patricia Bedecarrás, María Esnaola Azcoiti, Romina P Grinspon

المصدر: Journal of the Endocrine Society

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, High prevalence, Pediatric Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Sexual and Gender Development in the Pediatric Population, Medicine, business, Gene, AcademicSubjects/MED00250

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6b0a31a92e8c4cf986b60de6149f302
http://europepmc.org/articles/PMC7207673

المؤلفون: Ángel Agustín Izquierdo Núñez

المصدر: Podium, Vol 4, Iss 2, Pp 2340-2345 (2009)

مصطلحات موضوعية: Sports, GV557-1198.995

Relation: http://podium.upr.edu.cu/index.php/podium/article/view/370; https://doaj.org/toc/1996-2452; https://doaj.org/article/9e229f3bc91047989117185dc772a2ed

الاتاحة: https://doaj.org/article/9e229f3bc91047989117185dc772a2ed

المؤلفون: Augustine. Left Sanchez, Agustín. Izquierdo Sánchez

المساهمون: Universidad Complutense de Madrid. Faculty of Philosophy and Educational Sciences., Department of Philosophy of Law, Moral and Politics II (Ethics and Sociology), Universidad Complutense de Madrid. Facultad de Filosofía y Ciencias de la Educación., Departamento de Filosofía del Derecho, Moral y Política II (Ética y Sociología)

الاتاحة: http://data.europeana.eu/aggregation/europeana/9200101/BibliographicResource_1000126625376