Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Dulce R Guedes"'
Autor:
Dulce R Guedes, Maria Isabel Melaragno, Beatriz Moraes Grossi, Rodrigo Ambrosio Fock, Mirlene C. S. P. Cernach, Mileny E. S. Colovati, Gabriela Dias Nunes
Publikováno v:
Cytogenetic and genome research. 158(4)
Prader-Willi syndrome (PWS) and recurrent 15q13.3 microdeletion syndrome can be caused by genomic rearrangements in the complex 15q11q13 chromosomal region. Here, we describe the first female child with PWS and 15q13.3 microdeletion syndrome resultin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98069d0a0a889505d6bb16030a32f85b
https://pubmed.ncbi.nlm.nih.gov/31394532
https://pubmed.ncbi.nlm.nih.gov/31394532
Autor:
Dulce R. Guedes, Geraldo Medeiros-Neto, Cecília L. S. Santos, Ileana G.S. Rubio, Meyer Knobel, Antonio C. do Nascimento
Publikováno v:
Thyroid. 13:1145-1151
Mutations of the thyroperoxidase (TPO) gene have been reported as being the most severe and frequent abnormality in thyroid iodide organification defect (IOD) causing goitrous congenital hypothyroidism. The objective of this study was to screen and s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87d9e6eec94b3981eff89d405994e3a3
https://doi.org/10.1089/10507250360731550
https://doi.org/10.1089/10507250360731550
Autor:
Antonio C. Nascimento, Dulce R. Guedes, Cecilia S. Santos, Meyer Knobel, Ileana G.S. Rubio, Geraldo Medeiros-Neto
Publikováno v:
Thyroid; 12/01/2003, Vol. 13 Issue 12, p1145-1151, 7p