المؤلفون: Tatiéle Nalin, Fernanda Sperb-Ludwig, Marina Siebert, Gustavo Mottin Rizowy, David A. Weinstein, Terry G. J. Derks, Carolina F. M. de Souza, Ida V. D. Schwartz

المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 12 (2024)

مصطلحات موضوعية: Glycogen storage diseases, cytokines, anemia, iron metabolism, hepcidin, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942024000100304&lng=en&tlng=en; http://www.scielo.br/pdf/jiems/v12/2326-4594-jiems-12-e20230015.pdf; https://doaj.org/toc/2326-4594

URL الوصول: https://doaj.org/article/ce099c1370144a2d9ceefed56e3ec05f

المؤلفون: Suelen Porto Basgalupp, Vivian Altmann, Filippo Pinto e Vairo, Ida Vanessa Doederlein Schwartz, Marina Siebert, Renata Cravo, Erlane M. Ribeiro, Augusto C. dos Santos, Louise L. de Camargo Pinto, Carolina C. Militão, Luiz Fernando Andrade

المصدر: Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101006- (2023)

مصطلحات موضوعية: Gaucher disease, GBA1, Allele frequency, Mutations, Brazilian patients, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426923000526; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/d2a66241d68045b6bff785b464605667

المؤلفون: Leonardo Palma Kuhl, Paulo José Cauduro Marostica, Alexandre José Macedo, Gabriel Kuhl, Marina Siebert, Denise Manica, Leo Sekine, Cláudia Schweiger

المصدر: Brazilian Journal of Otorhinolaryngology, Vol 89, Iss 2, Pp 254-263 (2023)

مصطلحات موضوعية: Child, Tracheostomy, Metagenomics, Microbiota, 16S rRNA, Otorhinolaryngology, RF1-547

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1808869422000726; https://doaj.org/toc/1808-8694

URL الوصول: https://doaj.org/article/7656ff2943bd4e3aa9140e5acb4d3bab

المؤلفون: Luiza Monteavaro Mariath, Ana Elisa Kiszewski, Jeanine Aparecida Frantz, Marina Siebert, Ursula Matte, Lavínia Schuler-Faccini

المصدر: Anais Brasileiros de Dermatologia, Vol 96, Iss 2, Pp 155-162 (2021)

مصطلحات موضوعية: Genetic counseling, Diagnosis, Epidermolysis bullosa, Genetic testing, Dermatology, RL1-803

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962021000200155&tlng=en; http://www.scielo.br/pdf/abd/v96n2/0365-0596-abd-96-02-0155.pdf; https://doaj.org/toc/0365-0596

URL الوصول: https://doaj.org/article/f6e7d443cd9e4fdcbb0a9e52ce6ce87e

المؤلفون: Andrese Aline Gasparin, Nicole Pamplona Bueno de Andrade, Vanessa Hax, Penélope Esther Palominos, Marina Siebert, Romulo Marx, Pedro Guilherme Schaefer, Francisco Veríssimo Veronese, Odirlei André Monticielo

المصدر: BMC Rheumatology, Vol 4, Iss 1, Pp 1-10 (2020)

مصطلحات موضوعية: Lupus nephritis, VCAM-1, Vascular cell adhesion molecule-1, Urinary biomarker, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2520-1026

URL الوصول: https://doaj.org/article/4e14df1ed6a94da0b404bf14d9987157

المؤلفون: Suelen Porto Basgalupp, Marina Siebert, Charles Ferreira, Sidney Behringer, Ute Spiekerkoetter, Luciana Hannibal, Ida Vanessa Doederlein Schwartz

المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-10 (2020)

مصطلحات موضوعية: Gaucher disease, Vitamin B12, Cobalamin, Beta-glucosidase, Methylmalonic acid, Homocysteine, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/8f5783abb437443786ed30ecf4860d10

المؤلفون: Laís Alves Jacinto-Scudeiro, Gustavo Dariva Machado, Annelise Ayres, Daniela Burguêz, Marcia Polese-Bonatto, Carelis González-Salazar, Marina Siebert, Marcondes Cavalcante França Junior, Maira Rozenfeld Olchik, Jonas Alex Morales Saute

المصدر: Arquivos de Neuro-Psiquiatria, Vol 77, Iss 12, Pp 843-847 (2020)

مصطلحات موضوعية: Spastic paraplegia, hereditary, deglutition, xanthomatosis, cerebrotendinous, deglutition disorders, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2019001200843&tlng=en; http://www.scielo.br/pdf/anp/v77n12/1678-4227-anp-77-12-0843.pdf; https://doaj.org/toc/1678-4227

URL الوصول: https://doaj.org/article/e241ffc7ddaa49a2a346b33ea69c4e40

المؤلفون: Tiago F. Andreis, Bruno S. Correa, Fernanda S. Vianna, Fernanda De-Paris, Marina Siebert, Sandra Leistner-Segal, Eriza C. Hahn, Jane M. Ulbrich, Luis F.R. Rivero, Francine H. De Oliveira, Vinícius Lorandi, Patricia Ashton-Prolla, Gabriel S. Macedo

المصدر: Journal of Global Oncology, Vol 5, Pp 1-9 (2019)

مصطلحات موضوعية: Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2378-9506

URL الوصول: https://doaj.org/article/28864e23339447a2a1a5fea37f27b547

المؤلفون: Matheus V. M. B. Wilke, Alícia D. Dornelles, Artur S. Schuh, Filippo P. Vairo, Suelen P. Basgalupp, Marina Siebert, Tatiele Nalin, Otavio B. Piltcher, Ida V. D. Schwartz

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-7 (2019)

مصطلحات موضوعية: Gaucher disease, Parkinson’s disease, Non-motor symptoms, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-019-1079-4; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/33d5755ce4cc442eb69138e4d7c50e24

المؤلفون: Rodrigo Tzovenos Starosta, Marina Siebert, Filippo Pinto e Vairo, Bruno Lafaiete de Lima Costa, Christiano Tomaso Ponzoni, Ida Vanessa Doederlein Schwartz, Carlos Thadeu Schmidt Cerski

المصدر: Autopsy and Case Reports, Vol 11 (2021)

مصطلحات موضوعية: Gaucher Disease, Image Cytometry, Hepatocytes, Bile Canaliculi, Biopsy, Large-Core Needle, Medicine, Internal medicine, RC31-1245

وصف الملف: electronic resource

Relation: https://www.revistas.usp.br/autopsy/article/view/190132; https://doaj.org/toc/2236-1960

URL الوصول: https://doaj.org/article/3c0bc524781a4454aead3c5009ecff8d

المؤلفون: Tiago Falcon, Kelly Carraro Foletto, Marina Siebert, Denise Entrudo Pinto, Michael Andrades, Marcello Casaccia Bertoluci

المصدر: Genetics and Molecular Biology, Vol 43, Iss 1 (2020)

مصطلحات موضوعية: 16S rDNA, deep sequencing, saccharin, cyclamate, yogurt, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100805&tlng=en; http://www.scielo.br/pdf/gmb/v43n1/1415-4757-GMB-43-1-e20190028.pdf; https://doaj.org/toc/1678-4685

URL الوصول: https://doaj.org/article/65514b1212d247bb911de79b77aacec3

المؤلفون: Rodrigo Tzovenos Starosta, Filippo Pinto e Vairo, Alícia Dorneles Dornelles, Suélen Porto Basgalupp, Marina Siebert, Maria Lúcia Alves Pedroso, Carlos Thadeu Schmidt Cerski, Mário Reis Álvares-da-Silva, Ida Vanessa Doederlein Schwartz

المصدر: Molecular Genetics and Metabolism Reports, Vol 22, Iss , Pp - (2020)

مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426919301764; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/ce2bd2a446644e488e7c914ea3f65337

المؤلفون: Livia d'Avila Paskulin, Rodrigo Tzovenos Starosta, Vitória Schütt Zizemer, Suélen Basgalupp, Débora Bertholdo, Filippo Pinto e Vairo, Marina Siebert, Kristiane Michelin-Tirelli, Ida Vanessa Doederlein Schwartz

المصدر: Molecular Genetics and Metabolism Reports, Vol 21, Iss , Pp - (2019)

مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426919301545; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/24185e2c0b03495c815575d543bc2c23

المؤلفون: Laís Alves Jacinto-Scudeiro, Gustavo Dariva Machado, Annelise Ayres, Daniela Burguêz, Marcia Polese-Bonato, Carelis González-Salazar, Marina Siebert, Marcondes Cavalcante França Jr., Maira Rozenfeld Olchik, Jonas Alex Morales Saute

المصدر: Frontiers in Neurology, Vol 10 (2019)

مصطلحات موضوعية: hereditary spastic paraplegia, HSP, SPG, cognitive profile, memory, executive function, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fneur.2019.00508/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/a687bac855b84a83ab186ef008cc01c4

المؤلفون: Diana Rojas Málaga, Ana Carolina Brusius-Facchin, Marina Siebert, Gabriela Pasqualim, Maria Luiza Saraiva-Pereira, Carolina F.M de Souza, Ida V.D. Schwartz, Ursula Matte, Roberto Giugliani

المصدر: Genetics and Molecular Biology, Iss 0 (2019)

مصطلحات موضوعية: Ion Torrent, molecular diagnostics, next-generation sequencing, lysosomal storage disorders, validation, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019005013102&lng=en&tlng=en; https://doaj.org/toc/1678-4685

URL الوصول: https://doaj.org/article/b711a73e6ece42439f78bc2a1557738c

المؤلفون: Ana Carolina Brusius-Facchin, Marina Siebert, Delva Leão, Diana Rojas Malaga, Gabriela Pasqualim, Franciele Trapp, Ursula Matte, Roberto Giugliani, Sandra Leistner-Segal

المصدر: Genetics and Molecular Biology, Iss 0 (2019)

مصطلحات موضوعية: Lysosomal storage disease, mucopolysaccharidoses, next generation sequencing, target sequence, mutation detection, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019005012103&lng=en&tlng=en; https://doaj.org/toc/1678-4685

URL الوصول: https://doaj.org/article/1d2e1661a2b040df81291c0e287b4cb9

المؤلفون: Wendy Westbroek, Matthew Nguyen, Marina Siebert, Taylor Lindstrom, Robert A. Burnett, Elma Aflaki, Olive Jung, Rafael Tamargo, Jorge L. Rodriguez-Gil, Walter Acosta, An Hendrix, Bahafta Behre, Nahid Tayebi, Hideji Fujiwara, Rohini Sidhu, Benoit Renvoise, Edward I. Ginns, Amalia Dutra, Evgenia Pak, Carole Cramer, Daniel S. Ory, William J. Pavan, Ellen Sidransky

المصدر: Disease Models & Mechanisms, Vol 9, Iss 7, Pp 769-778 (2016)

مصطلحات موضوعية: Gaucher disease, Glucocerebrosidase, Neuron, Glucosylceramide, Glucosylsphingosine, Medicine, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://dmm.biologists.org/content/9/7/769; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

URL الوصول: https://doaj.org/article/f7b3e5e990b84865ae7b2fc4d4fb9cb0

المؤلفون: Tiago Koppe, Divair Doneda, Marina Siebert, Livia Paskulin, Matheus Camargo, Kristiane Michelin Tirelli, Filippo Vairo, Liane Daudt, Ida Vanessa D. Schwartz

المصدر: Genetics and Molecular Biology, Vol 39, Iss 1, Pp 30-34 (2016)

مصطلحات موضوعية: ferritin, biomarkers, Gaucher disease, iron metabolism, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000100030&lng=en&tlng=en; https://doaj.org/toc/1678-4685

URL الوصول: https://doaj.org/article/cc9534f3b5cd4593a6414809a999554a

المؤلفون: Vinícius Buaes Dal'Maso, Lucas Mallmann, Marina Siebert, Laura Simon, Maria Luiza Saraiva-Pereira, Paulo de Tarso Roth Dalcin

المصدر: Jornal Brasileiro de Pneumologia, Vol 39, Iss 2, Pp 181-189 (2013)

مصطلحات موضوعية: Cystic fibrosis/diagnosis, Cystic fibrosis/genetics, Cystic fibrosis transmembrane conductance regulator, Diseases of the respiratory system, RC705-779

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1806-37132013000200181&tlng=en; http://www.scielo.br/pdf/jbpneu/v39n2/1806-3713-jbpneu-39-2-0181.pdf; https://doaj.org/toc/1806-3756

URL الوصول: https://doaj.org/article/7dd46989eb9e44acbe4b3ca36ebc00cb

المؤلفون: Vinícius Buaes Dal'Maso, Lucas Mallmann, Marina Siebert, Laura Simon, Maria Luiza Saraiva-Pereira, Paulo de Tarso Roth Dalcin

المصدر: Jornal Brasileiro de Pneumologia, Vol 39, Iss 2, Pp 181-189 (2013)

مصطلحات موضوعية: Fibrose cística, Regulador de condutância transmembrana em fibrose cística, Cystic fibrosis, Cystic fibrosis transmembrane conductance regulator, Diseases of the respiratory system, RC705-779

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1806-37132013000200009; https://doaj.org/toc/1806-3713; https://doaj.org/toc/1806-3756

URL الوصول: https://doaj.org/article/fe438eb295de475182ab559878bc52d0