المؤلفون: Ivan Aivasovsky-Trotta, Sergio Vergara-Cardenas, Amenaida Ferrer-Marcano, Lorena Rincones-Rojas, Carolina Prieto-Soler, Ana Bracho-Fernández, Isabel Fernández-González, Luis Celis

المصدر: Iranian Journal of Neonatology, Vol 12, Iss 4, Pp 85-91 (2021)

مصطلحات موضوعية: congenital abnormalities, ectopia cordis, heart diseases, hernia, infant, newborn, pentalogy of cantrell, umbilical, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://ijn.mums.ac.ir/article_18482_6939c32170df999c15579710f8a7d330.pdf; https://doaj.org/toc/2251-7510; https://doaj.org/toc/2322-2158

URL الوصول: https://doaj.org/article/720fd4071c9f4821a86792343d79304c

المؤلفون: Francisco Cammarata-Scalisi, Concha Vidales Moreno, Carmen Zara-Chirinos, Ana Bracho, Diomar Pérez

المصدر: Nefrología, Vol 37, Iss 6, Pp 663-665 (2017)

مصطلحات موضوعية: Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0211699517300607; https://doaj.org/toc/0211-6995

URL الوصول: https://doaj.org/article/82db048b52fa4e1e970fd47d27dc6bee

المؤلفون: Francisco Cammarata-Scalisi, Concha Vidales Moreno, Carmen Zara-Chirinos, Ana Bracho, Diomar Pérez

المصدر: Nefrología (English Edition), Vol 37, Iss 6, Pp 663-665 (2017)

مصطلحات موضوعية: Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2013251417301840; https://doaj.org/toc/2013-2514

URL الوصول: https://doaj.org/article/792bbda1dc9047829b7ea0335219b632

المؤلفون: Alisandra Morales de Machín, Ana Bracho, Lisbeth Borjas, Karile Méndez, Enrique Machín, Karelis Urdaneta

المصدر: Revista de Obstetricia y Ginecología de Venezuela. 81:209-225

مصطلحات موضوعية: embryonic structures, Obstetrics and Gynecology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8255cdb4956de170849c282b8686b4bb
https://doi.org/10.51288/00810305

المؤلفون: Gunda Ruzaike, Andrea Avendaño, Colin E. Willoughby, Francisco Cammarata-Scalisi, Maykol Araya Castillo, Michele Callea, Antonio Cárdenas Tadich, Uta Matysiak, Houweyda Jilani, Ana Bracho, Carmen Zara-Chirinos

المصدر: Journal of Pediatric Genetics.

مصطلحات موضوعية: 0303 health sciences, Pathology, medicine.medical_specialty, Mutation, business.industry, Intron, macromolecular substances, medicine.disease, medicine.disease_cause, Short stature, Genu Valgum, 03 medical and health sciences, Exon, 0302 clinical medicine, Dysplasia, Pediatrics, Perinatology and Child Health, medicine, splice, Platyspondyly, medicine.symptom, business, 030217 neurology & neurosurgery, Genetics (clinical), 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a20b3b232796cd58d7e87bc2756c0739
https://doi.org/10.1055/s-0041-1732474

المؤلفون: Mancel Martínez, Craig Shapiro, Ana Bracho, Fernando De La Hoz

المصدر: Biomédica: revista del Instituto Nacional de Salud, Vol 11, Iss 1-4, Pp 49-55 (1991)

مصطلحات موضوعية: Medicine, Arctic medicine. Tropical medicine, RC955-962

وصف الملف: electronic resource

Relation: http://www.revistabiomedica.org/index.php/biomedica/article/view/2007; https://doaj.org/toc/0120-4157

URL الوصول: https://doaj.org/article/b69dcabd5ba6465e9a0f4f1f90f98654

المؤلفون: Jennifer Tarpinian, Alberto Fernández-Jaén, Deborah A. Nickerson, Michael J. Bamshad, Kosuke Izumi, Giovanni Battista Ferrero, Emma Bedoukian, Marcello Niceta, Brendan Lee, A. Micheil Innes, Yuri A. Zarate, Katherine A. Bosanko, Annie Laquerrière, Jennifer A. Bassetti, David Mowat, Beth Keena, Carolina Galaz-Montoya, Claudia Gonzaga-Jauregui, Boris Keren, Reid Sutton, Elaine H. Zackai, James R. Lupski, Constance F. Wells, Francesca Clementina Radio, Natalie Hauser, Dong Li, Grace U Ediae, Marco Tartaglia, Xiang-Jiao Yang, Para Chottil Soumya, Elizabeth J. Bhoj, Christine Coubes, Kinattinkara R. Subbaraman, Alain Verloes, Klaus Dieterich, John C. Carey, Mary K. Kukolich, Francisco Cammarata-Scalisi, Alper Gezdirici, Jessica X. Chong, Sirinart Molidperee, Amelle Shillington, Sarah L. Sawyer, David S. Liu, Ana Bracho, Li Xin Zhang, Richard A. Gibbs, Sheela Nampoothiri, Ingrid A. Holm, Philip M. Boone, Alyssa Ritter, Charlotte Dubucs, Philippe M. Campeau, Gabrielle Lemire, Maria Lisa Dentici, Jacqueline Aziza, Frank J. Probst, Karippoth Mohandas Nair, Millan S. Patel, Chester W. Brown

المصدر: ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
Genet Med

مصطلحات موضوعية: 0301 basic medicine, Say–Barber–Biesecker–Young–Simpson syndrome, 030105 genetics & heredity, Blepharophimosis, Bioinformatics, KAT6B, Article, 03 medical and health sciences, genitopatellar syndrome, KAT6B disorders, SBBYSS, Intellectual Disability, Genotype, Medicine, Humans, Allele, Increased nuchal translucency, Genetics (clinical), Histone Acetyltransferases, Optic nerve hypoplasia, Polydactyly, business.industry, Enfermedades genéticas congénitas, Pediatría, Embriología, Cystic hygroma, Exons, medicine.disease, Genética, 030104 developmental biology, Intestinal malrotation, Mutation, Genitopatellar syndrome, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cde38b83a56781321203d0daead97aba
http://hdl.handle.net/11268/10899

المؤلفون: Diomar Pérez, Concha Vidales Moreno, Francisco Cammarata-Scalisi, Carmen Zara-Chirinos, Ana Bracho

المصدر: Nefrología, Vol 37, Iss 6, Pp 663-665 (2017)
Nefrología (Madrid) v.37 n.6 2017
SciELO España. Revistas Científicas Españolas de Ciencias de la Salud
instname

مصطلحات موضوعية: business.industry, MEDLINE, Bioinformatics, Polycystic kidney, lcsh:Diseases of the genitourinary system. Urology, lcsh:RC870-923, 03 medical and health sciences, 0302 clinical medicine, Text mining, Nephrology, 030225 pediatrics, 030220 oncology & carcinogenesis, Medicine, business

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a580b821182cd166dff58de5b1f7494c
http://www.sciencedirect.com/science/article/pii/S0211699517300607

المؤلفون: Alisandra Morales-Machín, Francisco Álvarez-Nava, Ana Bracho, Roberto Lanes, Héctor Pons, Marisol Soto

المصدر: Journal of Obstetrics and Gynaecology Research. 41:1891-1898

مصطلحات موضوعية: medicine.medical_specialty, Pregnancy, Amniotic fluid, Obstetrics, business.industry, Obstetrics and Gynecology, Cystic hygroma, Prenatal diagnosis, medicine.disease, Hydrops fetalis, Turner syndrome, medicine, Gestation, Alpha-fetoprotein, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d249e011bc65958e4a4f1de470747faa
https://doi.org/10.1111/jog.12813

المؤلفون: Alisandra, Morales de Machín, Karile, Méndez, Ernesto, Solís, Lisbeth, Borjas de Borjas, Ana, Bracho, María Luisa, Hernández, Aimara, Negrón, Wilmer, Delgado, Yanira, Sánchez

المصدر: Investigacion clinica. 56(3)

مصطلحات موضوعية: Adult, Male, Polymorphism, Genetic, Adolescent, Genotype, Infant, Newborn, Middle Aged, Polymerase Chain Reaction, Young Adult, Gene Frequency, Pregnancy, Risk Factors, Case-Control Studies, Humans, Female, Genetic Predisposition to Disease, Neural Tube Defects, Methylenetetrahydrofolate Reductase (NADPH2)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::70a28d951e9e0ad26314f4c4dcff348e
https://pubmed.ncbi.nlm.nih.gov/26710543

المؤلفون: Francisco, Alvarez-Nava, Marisol, Soto, Roberto, Lanes, Hector, Pons, Alisandra, Morales-Machin, Ana, Bracho

المصدر: The journal of obstetrics and gynaecology research. 41(12)

مصطلحات موضوعية: Fetal Diseases, ROC Curve, Pregnancy, Pregnancy Trimester, Second, Humans, Turner Syndrome, Chorionic Gonadotropin, beta Subunit, Human, Female, alpha-Fetoproteins, Amniotic Fluid

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::e9a8dbcdbd963dd00ff075ef12bf98fd
https://pubmed.ncbi.nlm.nih.gov/26369382

المؤلفون: Carla G Asteggiano, Francisco Cammarata-Scalisi, Frances Stock, Gustavo Martínez-Domenech, Yanira Sánchez, Daniel Grinberg, Susana Balcells, Wilmer Delgado-Luengo, Carmen Zara-Chirinos, Mónica Cozar, Ana Bracho, José Antonio Chacín

المصدر: CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET

مصطلحات موضوعية: medicine.medical_specialty, CIENCIAS MÉDICAS Y DE LA SALUD, Double mutant, Multiple exostosis, business.industry, Hereditary multiple exostoses, Incidence (epidemiology), purl.org/becyt/ford/3.1 [https], Bioquímica y Biología Molecular, medicine.disease, Dermatology, N-acetylglucosaminyltransferase, Medicina Básica, EXT1 gene, Pediatrics, Perinatology and Child Health, medicine, purl.org/becyt/ford/3 [https], Allele, Osteocondrosis, business, Benign bone tumors, Alleles

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb1b98d2ac5bc78a35550cc578d739b5
http://www.sap.org.ar/docs/publicaciones/archivosarg/2015/v113n2a18.pdf

المؤلفون: Francisco Cammarata-Scalisi, Albaro Barrera, Uta Matysiak-Scholze, Yudith Guerrero, Ana Bracho, Jessica Heinze, María Angelina Lacruz-Rengel

المصدر: Archivos Argentinos de Pediatria. 113

مصطلحات موضوعية: TRPV4, Mutation, Pathology, medicine.medical_specialty, business.industry, Intron, medicine.disease_cause, Phenotype, Exon, Frontal Bossing, Skeletal disorder, Pediatrics, Perinatology and Child Health, medicine, Craniofacial, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::906525f258d6d6f21a0151fbbf077db9
https://doi.org/10.5546/aap.2015.e10

المؤلفون: Francisco, Cammarata-Scalisi, Mónica, Cozar, Daniel, Grinberg, Susana, Balcells, Carla G, Asteggiano, Gustavo, Martínez-Domenech, Ana, Bracho, Yanira, Sánchez, Frances, Stock, Wilmer, Delgado-Luengo, Carmen, Zara-Chirinos, José Antonio, Chacín

المصدر: Archivos argentinos de pediatria. 113(2)

مصطلحات موضوعية: Adolescent, Mutation, Humans, Female, N-Acetylglucosaminyltransferases, Alleles, Exostoses, Multiple Hereditary

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::ee36e5d250719220e46f042408aa51b0
https://pubmed.ncbi.nlm.nih.gov/25727835

المؤلفون: Francisco, Cammarata-Scalisi, Uta, Matysiak-Scholze, Jessica, Heinze, Albaro, Barrera, María Angelina, Lacruz-Rengel, Ana, Bracho, Yudith, Guerrero

المصدر: Archivos argentinos de pediatria. 113(1)

مصطلحات موضوعية: Phenotype, Mutation, Humans, Infant, TRPV Cation Channels, Dwarfism, Female, Exons, Osteochondrodysplasias

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::ac41685744e9fad1670974da83fc1367
https://pubmed.ncbi.nlm.nih.gov/25622169

المؤلفون: M. Martinez, Fernando de la Hoz, Ana Bracho, Craig N. Shapiro

المصدر: Biomédica: revista del Instituto Nacional de Salud, Vol 11, Iss 1-4, Pp 49-55 (1991)

مصطلحات موضوعية: Hepatitis B virus, Hepatitis B vaccine, lcsh:Arctic medicine. Tropical medicine, business.industry, lcsh:RC955-962, lcsh:R, medicine, lcsh:Medicine, medicine.disease_cause, business, Virology, General Biochemistry, Genetics and Molecular Biology, World health

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a479aad02aa11e56b4aaa845eb3cc06a
http://www.revistabiomedica.org/index.php/biomedica/article/view/2007

المؤلفون: Swan N. Thung, John L. Gerin, Antonio Ponzetto, Robert H. Purcell, Alejandro Mondolfi, Stephen C. Hadler, Michael A. Gerber, Dalia Rivera, Elias Anzola, Ana Bracho, James E. Maynard, Donald P. Francis, Hans Popper, Mario De Monzon

المصدر: Hepatology (Baltimore, Md.). 3(6)

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, HBsAg, Adolescent, Biology, medicine.disease_cause, Disease Outbreaks, Hepatitis B Antigens, Necrosis, medicine, Humans, Child, Hepatitis, Hepatitis B virus, Hepatitis delta Antigens, Hepatology, Indians, South American, medicine.disease, Hepatitis B, Venezuela, Virology, HBcAg, Liver, Superinfection, Child, Preschool, Carrier State, Coinfection, Female, Viral hepatitis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a62808ab0ca1c339ff1a2728f629bdde
https://pubmed.ncbi.nlm.nih.gov/6629319