المؤلفون: Sobrinho, Lívia Maria Ferreira, Silva, Thiago Oliveira, Refosco, Lilia Farret, Poloni, Soraia, Poswar, Fabiano Oliveira, de Souza, Carolina Fischinger Moura, Sperb-Ludwig, Fernanda, Schwartz, Ida Vanessa Doederlein

المساهمون: Clinics Hospital of Porto Alegre

المصدر: Molecular Genetics and Metabolism Reports ; volume 41, page 101164 ; ISSN 2214-4269

الاتاحة: https://doi.org/10.1016/j.ymgmr.2024.101164
https://api.elsevier.com/content/article/PII:S2214426924001174?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2214426924001174?httpAccept=text/plain

المؤلفون: de Souza, Carolina Fischinger Moura, Tonon, Tássia, Silva, Thiago Oliveira, Bachega, Tania A. S. S.

المصدر: Journal of Community Genetics ; ISSN 1868-6001

الاتاحة: https://doi.org/10.1007/s12687-024-00762-3
https://link.springer.com/content/pdf/10.1007/s12687-024-00762-3.pdf
https://link.springer.com/article/10.1007/s12687-024-00762-3/fulltext.html

المؤلفون: Zilber, Sophia, Woleben, Kasey, Johnson, Simon C., de Souza, Carolina Fischinger Moura, Boyce, Danielle, Freiert, Kevin, Boggs, Courtney, Messahel, Souad, Burnworth, Melinda J., Afolabi, Titilola M., Kayani, Saima

المصدر: Orphanet Journal of Rare Diseases ; volume 18, issue 1 ; ISSN 1750-1172

الاتاحة: http://dx.doi.org/10.1186/s13023-023-02886-0
https://link.springer.com/content/pdf/10.1186/s13023-023-02886-0.pdf
https://link.springer.com/article/10.1186/s13023-023-02886-0/fulltext.html

المؤلفون: Riva, Antonella, D'Onofrio, Gianluca, Pisati, Angelica, Roberti, Roberta, Amadori, Elisabetta, Bosch, Friedrich, de Souza, Carolina Fischinger Moura, Thomas, Ashley, Russo, Emilio, Striano, Pasquale, Bayat, Allan

المصدر: Cannabis & Cannabinoid Research; Aug2024, Vol. 9 Issue 4, p990-995, 6p

المؤلفون: Tolezano, Giovanna Cantini, Bastos, Giovanna Civitate, da Costa, Silvia Souza, Scliar, Marília de Oliveira, de Souza, Carolina Fischinger Moura, Van Der Linden Jr, Hélio, Fernandes, Walter Luiz Magalhães, Otto, Paulo Alberto, Vianna-Morgante, Angela M., Haddad, Luciana Amaral, Honjo, Rachel Sayuri, Yamamoto, Guilherme Lopes, Kim, Chong Ae, Rosenberg, Carla, Jorge, Alexander Augusto de Lima, Bertola, Débora Romeo, Krepischi, Ana Cristina Victorino

المصدر: Molecular Neurobiology; Aug2024, Vol. 61 Issue 8, p5230-5247, 18p

المؤلفون: Schincariol-Manhe, Beatriz, Campagnolo, Érica, Spineli-Silva, Samira, de Leeuw, Nicole, Correia-Costa, Gabriela Roldão, Pessoa, André, de Souza, Carolina Fischinger Moura, Stevens, Cathy, Javaher, Poupak, Scallet, Helena Fabbri, Mohr, Julia, Biskup, Saskia, Herkert, Johanna C., Pfundt, Rolph, Mehta, Lakshmi, Rekab, Aisha, Elloumi, Houda Zghal, Sanyoura, May, Maciel-Guerra, Andréa Trevas, Gil-da-Silva-Lopes, Vera Lúcia, dos Santos, Ana Mondadori, Vieira, Társis Paiva

المصدر: Schincariol-Manhe , B , Campagnolo , É , Spineli-Silva , S , de Leeuw , N , Correia-Costa , G R , Pessoa , A , de Souza , C F M , Stevens , C , Javaher , P , Scallet , H F , Mohr , J , Biskup , S , Herkert , J C , Pfundt , R , Mehta , L , Rekab , A , Elloumi , H Z , Sanyoura , M , Maciel-Guerra , A T , Gil-da-Silva-Lopes , V L , dos Santos , A M & Vieira , T ....

الاتاحة: https://hdl.handle.net/11370/92fd0ad1-4303-4209-a7bb-60c49c04eace
https://research.rug.nl/en/publications/92fd0ad1-4303-4209-a7bb-60c49c04eace
https://doi.org/10.1038/s41431-024-01695-8
http://www.scopus.com/inward/record.url?scp=85205074946&partnerID=8YFLogxK

المؤلفون: Delgado, Camila Aguilar, Lopes, Franciele Fátima, Faverzani, Jéssica Lamberty, Schmitt Ribas, Graziela, Padilha Marchetti, Desirèe, de Souza, Carolina Fischinger Moura, Giugliani, Roberto, Baldo, Guilherme, Vargas, Carmen Regla

المصدر: Clinical Biochemistry ; volume 133-134, page 110834 ; ISSN 0009-9120

الاتاحة: https://doi.org/10.1016/j.clinbiochem.2024.110834
https://api.elsevier.com/content/article/PII:S0009912024001280?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0009912024001280?httpAccept=text/plain

المؤلفون: Martins, Ana Maria, Curiati, Marco Antônio, Mendes, Carmen Curiati, Sakata, Edna Tiemi, de Souza, Carolina Fischinger Moura, Giugliani, Roberto

المصدر: Journal of Pediatric Neurology ; ISSN 1304-2580 1875-9041

الاتاحة: http://dx.doi.org/10.1055/s-0043-1778099
http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0043-1778099.pdf

المؤلفون: Sobrinho, Livia, Refosco, Lilia, Poswar, Fabiano, de Souza, Carolina Fischinger Moura, Schwartz, Ida Vanessa Doederlein

المصدر: Molecular Genetics and Metabolism ; volume 141, issue 4, page 108261 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2024.108261
https://api.elsevier.com/content/article/PII:S109671922400146X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S109671922400146X?httpAccept=text/plain

المؤلفون: Schwartz, Ida Vanessa Doederlein, dos Santos, Mariana Lopes, Fink, Isabela Alicia, de Bitencourt, Fernanda Fernanda Hendges, Sperb-Ludwig, Fernanda, Refosco, Lilia Farret, de Souza, Carolina Fischinger Moura, Poswar, Fabiano Oliveira, Vieira, Marta Wey, Moretzsohn, Monica, Curiati, Marco Antonio, Santos, Mara Lúcia Schmitz Ferreira, do Valle, Daniel Almeida, Menezes, Ana Cecília, da Silva Baptista Arpini, Luana, Heredia, Romina Soledad, da Silva, Luiz Carlos Santana, de Camargo Pinto, Louise Lapagesse, de Rosso Giuliani, Liane, Adjuto, Giselle Maria Araujo Felix, de Distúrbios do Ciclo da Uréia, Grupo Brasileiro

المصدر: Molecular Genetics and Metabolism ; volume 141, issue 4, page 108217 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2024.108217
https://api.elsevier.com/content/article/PII:S1096719224001021?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719224001021?httpAccept=text/plain

المؤلفون: Poswar, Fabiano O., Schneider, Raquel, Gonzalez, Esteban A., Carabali, Luz Elene Durán, de Souza, Carolina Fischinger Moura, Santos, Angela B., Baldo, Guilherme, Giugliani, Roberto

المصدر: Molecular Genetics and Metabolism ; volume 141, issue 2, page 108002 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2023.108002
https://api.elsevier.com/content/article/PII:S1096719223006327?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719223006327?httpAccept=text/plain

المؤلفون: de Souza, Carolina Fischinger Moura, Alves, Tamires, Duarte, Juliana, Burke, Jenna, Chan, Gary, Higgins, Mikayla, Falabella, Paulo, Phillips, Dawn, Ohnsman, Christina, Giugliani, Roberto

المصدر: Molecular Genetics and Metabolism ; volume 141, issue 2, page 107970 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2023.107970
https://api.elsevier.com/content/article/PII:S1096719223006005?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719223006005?httpAccept=text/plain

المؤلفون: Margutti, Ana Vitoria Barban, Silva, Wilson Araújo, Garcia, Daniel Fantozzi, de Molfetta, Greice Andreotti, Marques, Adriana Aparecida, Amorim, Tatiana, Prazeres, Vânia Mesquita Gadelha, Boy da Silva, Raquel Tavares, Miura, Irene Kazue, Seda Neto, João, Santos, Emerson de Santana, Santos, Mara Lúcia Schmitz Ferreira, Lourenço, Charles Marques, Tonon, Tássia, Sperb-Ludwig, Fernanda, de Souza, Carolina Fischinger Moura, Schwartz, Ida Vanessa Döederlein, Camelo, José Simon

المساهمون: Nucleus of Research Support, Center for Integrative Systems Biology of University of São Paulo- Brazil, Conselho Nacional de Desenvolvimento Científico e Tecnológico

المصدر: Orphanet Journal of Rare Diseases ; volume 15, issue 1 ; ISSN 1750-1172

الاتاحة: http://dx.doi.org/10.1186/s13023-020-01590-7
http://link.springer.com/content/pdf/10.1186/s13023-020-01590-7.pdf
http://link.springer.com/article/10.1186/s13023-020-01590-7/fulltext.html

المؤلفون: Gus, Patrícia Ioschpe, Donis, Karina Carvalho, Marinho, Diane, Martins, Tiago Franco, de Souza, Carolina Fischinger Moura, Carloto, Rafael Barboza, Leivas, Gabriel, Schwartz, Ida Vanessa Doederlein

المساهمون: National Council for Scientific and Technological Development (CNPq)., Conselho Nacional de Desenvolvimento Científico e Tecnológico

المصدر: Ophthalmic Genetics ; volume 42, issue 1, page 71-74 ; ISSN 1381-6810 1744-5094

الاتاحة: http://dx.doi.org/10.1080/13816810.2020.1821384
https://www.tandfonline.com/doi/pdf/10.1080/13816810.2020.1821384

المؤلفون: Pinheiro, Franciele Cabral, Sperb-Ludwig, Fernanda, Fagundes Verch, Juliana Maria, dos Santos, Bruna Bento, de Souza, Carolina Fischinger Moura, Schwartz, Ida Vanessa Doederlein

المساهمون: FIPE-HCPA, CAPES, CNPq, Post-Graduation Program of Genetics and Molecular Biology-UFRGS

المصدر: Molecular Genetics and Metabolism Reports ; volume 25, page 100659 ; ISSN 2214-4269

الاتاحة: http://dx.doi.org/10.1016/j.ymgmr.2020.100659
https://api.elsevier.com/content/article/PII:S2214426920301051?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2214426920301051?httpAccept=text/plain

المؤلفون: de Lima Silva, Elis Vanessa, Donis, Karina Carvalho, Machado, Fabiana Rita Camara, Simão Medeiros, Leonardo, Aschoff, Carlos Alberto de Moura, de Souza, Carolina Fischinger Moura, Poswar, Fabiano de Oliveira, Saute, Jonas Alex Morales

المصدر: Journal of Neuromuscular Diseases; 2023, Vol. 10 Issue 6, p1145-1149, 5p

المؤلفون: Giugliani, Luciana, Steiner, Carlos Eduardo, Kim, Chong Ae, Lourenço, Charles Marques, Santos, Mara Lucia Schmitz Ferreira, de Souza, Carolina Fischinger Moura, Brusius‐Facchin, Ana Carolina, Baldo, Guilherme, Riegel, Mariluce, Giugliani, Roberto

المساهمون: Fundo de Incentivo à Pesquisa e Eventos, and Instituto Nacional de Genética Médica Populacional

المصدر: JIMD Reports ; volume 49, issue 1, page 96-106 ; ISSN 2192-8312 2192-8312

الاتاحة: http://dx.doi.org/10.1002/jmd2.12067
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fjmd2.12067
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12067
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/jmd2.12067

المؤلفون: Wilke, Matheus Vernet Machado Bressan, de Oliveira, Bibiana Mello, Starosta, Rodrigo Tzovenos, Shinawi, Marwan, Lu, Liang, He, Mai, Ma, Yamin, Stoll, Janis, de Souza, Carolina Fischinger Moura, de Siqueira, Ana Cecilia Menezes, Vieira, Sandra Maria Gonçalves, Cerski, Carlos Thadeu, Refosco, Lilia Farret, Schwartz, Ida Vanessa Doederlein

المصدر: 2020-Current year OA Pubs

مصطلحات موضوعية: ICTS (Institute of Clinical and Translational Sciences), Medicine and Health Sciences

وصف الملف: application/pdf

Relation: https://digitalcommons.wustl.edu/oa_4/1930; https://digitalcommons.wustl.edu/context/oa_4/article/2916/viewcontent/A_Broad_Characterization_of_Glycogen_Storage_Disease_IV_Patients.pdf

الاتاحة: https://digitalcommons.wustl.edu/oa_4/1930
https://doi.org/10.3390/biomedicines11020363
https://digitalcommons.wustl.edu/context/oa_4/article/2916/viewcontent/A_Broad_Characterization_of_Glycogen_Storage_Disease_IV_Patients.pdf

المؤلفون: Portich, Júlia Plentz, Ribeiro, Aline Sinhorelo, Rodrigues Taniguchi, Adriano Nori, Backes, Ariane, de Souza, Carolina Fischinger Moura, Kieling, Carlos Oscar, Scherer, Fernanda Fetter, de Oliveira Poswar, Fabiano, Leipnitz, Ian, Doederlein Schwartz, Ida Vanessa, Sekine, Leo, Rigoni, Lisandra Della Costa, Marquardt da Silveira, Luciana, de Almeida Furlanetto, Marina, Adami, Marina Rossato, Breunig, Raquel Cristine, Guedes, Renata Rostirola, do Amaral, Sheila Nogueira, Gonçalves Vieira, Sandra Maria, de Brum Soares, Tahiane, Silva, Thiago Oliveira, da Rocha Silla, Lúcia Mariano, Astigarraga, Claudia Caceres, Paz, Alessandra Aparecida, Daudt, Liane Esteves

المصدر: Journal of Pediatric Hematology/Oncology ; volume 45, issue 7, page 416-422 ; ISSN 1077-4114

الاتاحة: http://dx.doi.org/10.1097/mph.0000000000002738
https://journals.lww.com/10.1097/MPH.0000000000002738

المؤلفون: Medeiros, Leonardo Simão, De Souza, Carolina Fischinger Moura, Artigalás, Osvaldo, Galera, Marcial Francis, Costa, Roseli Divino, do Valle Oliveira, Dayse, García-Ortiz, José Elías, Guerrero, Jesús Real, Oliveira, João Bosco, Schwartz, Ida Vanessa Doederlein

المصدر: Molecular Genetics and Metabolism ; volume 138, issue 3, page 107487 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2023.107487
https://api.elsevier.com/content/article/PII:S1096719223001178?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719223001178?httpAccept=text/plain