Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Karen Regina Silva de Souza"'
Autor:
Mariluce Riegel, Nathália Barcellos, Rafaella Mergener, Karen Regina Silva de Souza, Júlio César Loguercio Leite, Rejane Gus, Lilia Maria Azevedo Moreira, Roberto Giugliani
Publikováno v:
Clinical and Biomedical Research, Vol 34, Iss 4 (2014)
Introduction: During the past few decades, the number of diseases identified to be caused by chromosomal microdeletions has increased quickly, bringing a new and crucial role for cytogenetics on the diagnosis of these conditions. The purpose of this
Externí odkaz:
https://doaj.org/article/9722cfa8ac53483281a24f66cac910e3
Autor:
Karen Regina Silva de Souza, Janaina Huber, Mariluce Riegel, Lucia Campos Pellanda, Rafaella Mergener
Publikováno v:
BioMed Research International
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
BioMed Research International, Vol 2015 (2015)
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
BioMed Research International, Vol 2015 (2015)
Despite considerable advances in the detection of genomic abnormalities in congenital heart disease (CHD), the etiology of CHD remains largely unknown. CHD is the most common birth defect and is a major cause of infant morbidity and mortality, and co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1faebadf50f58f7b7d02ac9c9229d430
http://europepmc.org/articles/PMC4475533
http://europepmc.org/articles/PMC4475533
Autor:
Karen Regina Silva de Souza, Júlio César Loguercio Leite, Rejane Gus, Roberto Giugliani, Rafaella Mergener, Mariluce Riegel, Lilia Maria de Azevedo Moreira, Nathália Barcellos
Publikováno v:
Clinical and Biomedical Research, Vol 34, Iss 4 (2014)
Clinical & Biomedical Research; Vol. 34 No. 4 (2014)
Clinical and Biomedical Research; v. 34 n. 4 (2014)
Clinical and Biomedical Research
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Repositório Institucional da UFRGS
Clinical & Biomedical Research; Vol. 34 No. 4 (2014)
Clinical and Biomedical Research; v. 34 n. 4 (2014)
Clinical and Biomedical Research
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Repositório Institucional da UFRGS
Introduction: During the past few decades, the number of diseases identified to be caused by chromosomal microdeletions has increased quickly, bringing a new and crucial role for cytogenetics on the diagnosis of these conditions. The purpose of this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebd8964fa63e5423ae5b2baa5aac8b4a
http://seer.ufrgs.br/hcpa/article/view/50295
http://seer.ufrgs.br/hcpa/article/view/50295
Autor:
Elena Vallespín, Sixto García-Miñaur, Luis J. Fernández, Pablo Lapunzina, Mariluce Riegel, Fe Amalia García-Santiago, María Palomares-Bralo, Rocío Mena, Rafaella Mergener, Julián Nevado, Elena Mansilla, Karen Regina Silva de Souza, María Ángeles Mori, Fernando Santos, Victor Martinez-Glez, María Luisa de Torres
Publikováno v:
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Genetics and Molecular Biology v.37 n.1 suppl.1 2014
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Volume: 37, Issue: 1 Supplement 1, Pages: 210-219, Published: 2014
ResearcherID
Genetics and Molecular Biology, Vol 37, Iss 1 suppl 1, Pp 210-219 (2014)
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Genetics and Molecular Biology v.37 n.1 suppl.1 2014
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Volume: 37, Issue: 1 Supplement 1, Pages: 210-219, Published: 2014
ResearcherID
Genetics and Molecular Biology, Vol 37, Iss 1 suppl 1, Pp 210-219 (2014)
Several new microdeletion and microduplication syndromes are emerging as disorders that have been proven to cause multisystem pathologies frequently associated with intellectual disability (ID), multiple congenital anomalies (MCA), autistic spectrum
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ff8d583f4cb21afabc094bae34cd613
