المؤلفون: Favio Pesaola, Guillermo Guelbert, Ana Clara Venier, Inés Adriana Cismondi, Adriana Becerra, Juan Carlos G. Vazquez, Elmer Fernandez, Ana Lucia De Paul, Norberto Guelbert, Inés Noher

المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)

مصطلحات موضوعية: Neuronal CeroidLipofuscinosis, Genomics, CLN1, CLN2, CLN8, Atypical Phenotypes, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100308&tlng=enTest; https://doaj.org/toc/2326-4594Test

الوصول الحر: https://doaj.org/article/98139ce7c9a94aa784ae9d56f4a1dc8cTest

المؤلفون: Guillermo Guelbert, Adriana Becerra, Favio Pesaola, Ana Clara Venier, Ana Lucía De Paul, Inés Adriana Cismondi, Ines Noher, Juan Carlos G. Vazquez, Norberto Guelbert, Elmer Andrés Fernández

المصدر: Journal of Inborn Errors of Metabolism and Screening v.9 2021
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Repositorio Digital Universitario (UNC)
Universidad Nacional de Córdoba
instacron:UNC
Journal of Inborn Errors of Metabolism and Screening, Volume: 9, Article number: e20210009, Published: 05 MAY 2021
Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)

مصطلحات موضوعية: Genetics, Atypical Phenotypes, Medicine (General), KCTD7, CLN1, Endocrinology, Diabetes and Metabolism, CLN2, PPT1, Neuronal Ceroid Lipofuscinosis, Genomics, Biology, medicine.disease, Phenotype, CLN8, R5-920, Neuronal CeroidLipofuscinosis, Pediatrics, Perinatology and Child Health, Genotype, medicine, Neuronal ceroid lipofuscinosis, Gene, Genetics (clinical), Exome sequencing

وصف الملف: text/html; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b45888f3d773e07c06b990cb4c0df23aTest
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100308Test