Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Alicia,Sturich"'
Autor:
Ernesto Juaneda, Julio Orellana, Alejandra Cháves, Norma Teresa Rossi, Blanca L. Pereyra, Alicia Sturich, Luis Alday, Cecilia del Carmen Montes, Roberto De Rossi
Publikováno v:
Archivos Argentinos de Pediatria. 111:423-427
The 22q11.2 microdeletion is the most common deletion syndrome, with a prevalence of 1/4000-1/6000 among newborn infants and a wide phenotypic variability. The diagnosis of the 22q11.2 microdeletion is made through cytogenetics or fluorescence in sit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3abb7d357218ae9d407922e123d41af9
https://doi.org/10.5546/aap.2013.423
https://doi.org/10.5546/aap.2013.423
Autor:
Mariana Asinari, Cecilia del Carmen Montes, Norma Teresa Rossi, Alicia Sturich, Eduardo Cuestas, Mariana Boterón, Ivana Canonero
Publikováno v:
Archivos Argentinos de Pediatria. 110:e50-e54
Phelan McDermid Syndrome is caused by the loss of genetic material in a chromosome from pair 22, at the band q13.3. We describe five patients with deletion 22q13.3 in order to establish a genotype-phenotype association, and report the first case desc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::24d567e8394a44f1fd9359b98224ad30
https://doi.org/10.5546/aap.2012.e50
https://doi.org/10.5546/aap.2012.e50
Autor:
Asinari,Mariana Beatriz, Zeballos,Maximiliano, Alicia,Sturich, Ricchi,Brenda Nidia, Basquiera,Ana Lisa
Publikováno v:
Revista Brasileira de Hematologia e Hemoterapia, Volume: 37, Issue: 1, Pages: 55-57, Published: FEB 2015
Revista Brasileira de Hematologia e Hemoterapia v.37 n.1 2015
Revista brasileira de hematologia e hemoterapia
Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC)
instacron:ABHHTC
Revista Brasileira de Hematologia e Hemoterapia v.37 n.1 2015
Revista brasileira de hematologia e hemoterapia
Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC)
instacron:ABHHTC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5a11a8193890108395088913bca26ac3
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842015000100055&lng=en&tlng=en
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842015000100055&lng=en&tlng=en
Autor:
Cecilia, Del Carmen Montes, Alicia, Sturich, Alejandra, Chaves, Ernesto, Juaneda, Julio, Orellana, Roberto, De Rossi, Blanca, Pereyra, Luis, Alday, Norma Teresa, Rossi
Publikováno v:
Archivos argentinos de pediatria. 111(5)
The 22q11.2 microdeletion is the most common deletion syndrome, with a prevalence of 1/4000-1/6000 among newborn infants and a wide phenotypic variability. The diagnosis of the 22q11.2 microdeletion is made through cytogenetics or fuorescence in situ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8934f622337b2685be0f4ea831019e3
https://pubmed.ncbi.nlm.nih.gov/24092030
https://pubmed.ncbi.nlm.nih.gov/24092030
Autor:
Ivana, Canonero, Cecilia, Montes, Alicia, Sturich, Mariana, Boterón, Mariana, Asinari, Eduardo, Cuestas, Norma, Rossi
Publikováno v:
Archivos argentinos de pediatria. 110(3)
Phelan McDermid Syndrome is caused by the loss of genetic material in a chromosome from pair 22, at the band q13.3. We describe five patients with deletion 22q13.3 in order to establish a genotype-phenotype association, and report the first case desc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1118cd9e04585423c264e42747119574
https://pubmed.ncbi.nlm.nih.gov/22760760
https://pubmed.ncbi.nlm.nih.gov/22760760
Autor:
Asinari, Mariana Beatriz, Zeballos, Maximiliano, Alicia, Sturich, Ricchi, Brenda Nidia, Basquiera, Ana Lisa
Publikováno v:
In Revista Brasileira de Hematologia e Hemoterapia January-February 2015 37(1):55-57