Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Ana Bracho"'
Autor:
Ivan Aivasovsky-Trotta, Sergio Vergara-Cardenas, Amenaida Ferrer-Marcano, Lorena Rincones-Rojas, Carolina Prieto-Soler, Ana Bracho-Fernández, Isabel Fernández-González, Luis Celis
Publikováno v:
Iranian Journal of Neonatology, Vol 12, Iss 4, Pp 85-91 (2021)
Background: Cantrell's pentalogy (CP) is a rare congenital disease caused by morphological changes in the mesoderm. Defects of the lower sternum with ectopia cordis, midline supraumbilical abdominal wall, anterior diaphragm, diaphragmatic pericardium
Externí odkaz:
https://doaj.org/article/720fd4071c9f4821a86792343d79304c
Autor:
Francisco Cammarata-Scalisi, Concha Vidales Moreno, Carmen Zara-Chirinos, Ana Bracho, Diomar Pérez
Publikováno v:
Nefrología, Vol 37, Iss 6, Pp 663-665 (2017)
Externí odkaz:
https://doaj.org/article/82db048b52fa4e1e970fd47d27dc6bee
Autor:
Francisco Cammarata-Scalisi, Concha Vidales Moreno, Carmen Zara-Chirinos, Ana Bracho, Diomar Pérez
Publikováno v:
Nefrología (English Edition), Vol 37, Iss 6, Pp 663-665 (2017)
Externí odkaz:
https://doaj.org/article/792bbda1dc9047829b7ea0335219b632
Publikováno v:
Biomédica: revista del Instituto Nacional de Salud, Vol 11, Iss 1-4, Pp 49-55 (1991)
Se hace una revisión de los conocimientos actuales sobre el tratamiento en el caso de una probable exposición al virus de la hepatitis B. Se presenta la pormenorización de las diferentes clases de exposición así como la indicación y dosificaci
Externí odkaz:
https://doaj.org/article/b69dcabd5ba6465e9a0f4f1f90f98654
Autor:
Alisandra Morales de Machín, Ana Bracho, Lisbeth Borjas, Karile Méndez, Enrique Machín, Karelis Urdaneta
Publikováno v:
Revista de Obstetricia y Ginecología de Venezuela. 81:209-225
Objective: To identify genetic risk factors and frequency and to describe congenital defects of the fetus. Methods: The research was conducted at the Genetic Research Institute of the Faculty of Medicine. University of Zulia. Maracaibo. We studied pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8255cdb4956de170849c282b8686b4bb
https://doi.org/10.51288/00810305
https://doi.org/10.51288/00810305
Autor:
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
Publikováno v:
Journal of Pediatric Genetics.
Spondylometaphyseal dysplasia Algerian type (MIM no.: 184253) is an uncommon autosomal dominant skeletal dysplasia caused by heterozygous mutations in the COL2A1 gene (MIM no.: 120140). In this case based review, we reported a 5-year-old boy with sho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a20b3b232796cd58d7e87bc2756c0739
https://doi.org/10.1055/s-0041-1732474
https://doi.org/10.1055/s-0041-1732474
Autor:
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
Publikováno v:
ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
Genet Med
Universidad Europea (UEM)
Genet Med
Purpose :Genitopatellar syndrome and Say–Barber–Biesecker–Young–Simpson syndrome are caused by variants in the KAT6B gene and are part of a broad clinical spectrum called KAT6B disorders, whose variable expressivity is increasingly being reco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cde38b83a56781321203d0daead97aba
http://hdl.handle.net/11268/10899
http://hdl.handle.net/11268/10899
Autor:
Diomar Pérez, Concha Vidales Moreno, Francisco Cammarata-Scalisi, Carmen Zara-Chirinos, Ana Bracho
Publikováno v:
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
Nefrología (Madrid) v.37 n.6 2017
SciELO España. Revistas Científicas Españolas de Ciencias de la Salud
instname
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a580b821182cd166dff58de5b1f7494c
http://www.sciencedirect.com/science/article/pii/S0211699517300607
http://www.sciencedirect.com/science/article/pii/S0211699517300607
Autor:
Alisandra Morales-Machín, Francisco Álvarez-Nava, Ana Bracho, Roberto Lanes, Héctor Pons, Marisol Soto
Publikováno v:
Journal of Obstetrics and Gynaecology Research. 41:1891-1898
Aim The objective of this study was to determine the ability of biochemical analytes to identify adverse outcomes in pregnancies with Turner syndrome. Methods Maternal serum and amniotic fluid (AF) marker concentrations were measured in 73 singleton
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d249e011bc65958e4a4f1de470747faa
https://doi.org/10.1111/jog.12813
https://doi.org/10.1111/jog.12813
Autor:
Alisandra, Morales de Machín, Karile, Méndez, Ernesto, Solís, Lisbeth, Borjas de Borjas, Ana, Bracho, María Luisa, Hernández, Aimara, Negrón, Wilmer, Delgado, Yanira, Sánchez
Publikováno v:
Investigacion clinica. 56(3)
Neural tube defects (NTD) are the most common congenital anomalies of the central nervous system, with a multifactorial pattern of inheritance, presumably involving the interaction of several genetic and environmental factors. The methylenetetrahydro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::70a28d951e9e0ad26314f4c4dcff348e
https://pubmed.ncbi.nlm.nih.gov/26710543
https://pubmed.ncbi.nlm.nih.gov/26710543