-
1دورية أكاديمية
المؤلفون: Natália D. Linhares, Piotr Wilk, Elżbieta Wątor, Meire A. Tostes, Manfred S. Weiss, Sergio D. J. Pena
المصدر: Genetics and Molecular Biology, Vol 44, Iss 2 (2021)
مصطلحات موضوعية: Prolidase Deficiency, PEPD, exome sequencing, crystallization studies, metalloprotease, Genetics, QH426-470
وصف الملف: electronic resource
-
2دورية أكاديمية
المؤلفون: Bianca Ho, Keelin Greenlaw, Abeer Al Tuwaijri, Sanny Moussette, Francisco Martínez, Elisa Giorgio, Alfredo Brusco, Giovanni Battista Ferrero, Natália D. Linhares, Eugênia R. Valadares, Marta Svartman, Vera M. Kalscheuer, Germán Rodríguez Criado, Catherine Laprise, Celia M. T. Greenwood, Anna K. Naumova
المصدر: Biology of Sex Differences, Vol 9, Iss 1, Pp 1-10 (2018)
مصطلحات موضوعية: DNA methylation, Sex, X chromosome, Y chromosome, Medicine, Physiology, QP1-981
وصف الملف: electronic resource
-
3دورية أكاديمية
المؤلفون: Fernanda C. Soardi, Alice Machado-Silva, Natália D. Linhares, Ge Zheng, Qianhui Qu, Heloísa B. Pena, Thaís M. M. Martins, Helaine G. S. Vieira, Núbia B. Pereira, Raquel C. Melo-Minardi, Carolina C. Gomes, Ricardo S. Gomez, Dawidson A. Gomes, Douglas E. V. Pires, David B. Ascher, Hongtao Yu, Sérgio D. J. Pena
المصدر: npj Genomic Medicine, Vol 2, Iss 1, Pp 1-11 (2017)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2056-7944
-
4De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females
المؤلفون: Eugênia Ribeiro Valadares, Kaitlyn M Shen, Sérgio D.J. Pena, Alanna Strong, Dong Li, Natália D. Linhares, David Cassiman, Elaine H. Zackai, Deindl Philipp, Penny Chow, Arupa Ganguly, Jaak Jaeken, Samantha A. Schrier Vergano, Maria Van Dyck, Tatjana Bierhals, Tiancheng Wang, Elizabeth J. Bhoj, Hakon Hakonarson, Anne Hing, Tasja Scholz
المصدر: Genetics in Medicine. 23:637-644
مصطلحات موضوعية: 0301 basic medicine, Genetics, business.industry, media_common.quotation_subject, Nonsense, 030105 genetics & heredity, medicine.disease, Frameshift mutation, MED12, 03 medical and health sciences, 030104 developmental biology, Intestinal malrotation, Intellectual disability, medicine, Missense mutation, business, Genetics (clinical), Exome sequencing, Loss function, media_common
-
5دورية أكاديمية
المصدر: PLoS Computational Biology, Vol 13, Iss 6, p e1005520 (2017)
مصطلحات موضوعية: Biology (General), QH301-705.5
وصف الملف: electronic resource
-
6
المؤلفون: Izabela M. C. A. Conceição, Daniela A Pereira, Natália D. Linhares, Nadav Ahituv, Glória Regina Franco, Marcelo R. Luizon, Walter L. Eckalbar
المصدر: Pharmacogenomics. 21:509-520
مصطلحات موضوعية: 0301 basic medicine, Pharmacology, Genetics, endocrine system diseases, biology, 030209 endocrinology & metabolism, Single-nucleotide polymorphism, Genome-wide association study, Quantitative trait locus, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Intergenic region, Histone, biology.protein, Molecular Medicine, SNP, Enhancer, Chromatin immunoprecipitation
-
7
المؤلفون: Piotr Wilk, Sérgio D.J. Pena, Elżbieta Wątor, Meire A. Tostes, Natália D. Linhares, Manfred S. Weiss
المصدر: Genetics and Molecular Biology v.44 n.2 2021
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Volume: 44, Issue: 2, Article number: e20200393, Published: 19 APR 2021
Genetics and Molecular Biology, Vol 44, Iss 2 (2021)مصطلحات موضوعية: 0106 biological sciences, 0301 basic medicine, metalloprotease, PEPD, QH426-470, Biology, Compound heterozygosity, 01 natural sciences, 03 medical and health sciences, Genetics, medicine, crystallization studies, Site-directed mutagenesis, Molecular Biology, Gene, Exome sequencing, Prolidase deficiency, medicine.disease, Phenotype, Prolidase Deficiency, exome sequencing, 030104 developmental biology, Protein destabilization, Human and Medical Genetics, 010606 plant biology & botany
وصف الملف: text/html; application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad7de0873a195f0968aa3efc8bed4139
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572021000300105 -
8
المؤلفون: Natália D, Linhares, Daniela A, Pereira, Izabela McA, Conceição, Glória R, Franco, Walter L, Eckalbar, Nadav, Ahituv, Marcelo R, Luizon
المصدر: Pharmacogenomics. 21(8)
مصطلحات موضوعية: Growth Differentiation Factor 15, Hepatocytes, Humans, Hypoglycemic Agents, Polymorphism, Single Nucleotide, Metformin, Cell Line, Genome-Wide Association Study
-
9
المصدر: Journal of hypertension. 38(2)
مصطلحات موضوعية: Candidate gene, Physiology, business.industry, In silico, Computational biology, medicine.disease, Preeclampsia, Functional annotation, Pre-Eclampsia, Pregnancy, Exome Sequencing, Internal Medicine, medicine, Humans, Exome, Female, Genetic Predisposition to Disease, Cardiology and Cardiovascular Medicine, business, Exome sequencing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1e1c0269f5f3002fedb94f8ec49f532
https://pubmed.ncbi.nlm.nih.gov/30633125 -
10
المصدر: Clinical Kidney Journal
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Genetic Kidney Diseases, Genetic counseling, glomerular disease, Disease, Gastroenterology, Primary Adrenal Insufficiency, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Adrenal insufficiency, Congenital nephrotic syndrome, Transplantation, sphingolipids, nephrotic syndrome, business.industry, medicine.disease, Hyperpigmentation, 030104 developmental biology, Nephrology, Addison's disease, sphingolipidosis, medicine.symptom, adrenal insufficiency, business, Nephrotic syndrome, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00c9e88644cb9b0b27fe33f84a187e36
https://doi.org/10.1093/ckj/sfx130