المؤلفون: Yorran Hardman Araújo Montenegro, Francyne Kubaski, Franciele Barbosa Trapp, Mariluce Riegel-Giugliani, Carolina Fischinger Moura de Souza, Erlane Marques Ribeiro, Charles Marques Lourenço, Augusto César Cardoso-dos-Santos, Márcia Gonçalves Ribeiro, Chong Ae Kim, Matheus Augusto Araújo Castro, Emília Katiane Embiruçu, Carlos Eduardo Steiner, Filippo Pinto e Vairo, Guilherme Baldo, Roberto Giugliani, Fabiano de Oliveira Poswar

المصدر: Genetics and Molecular Biology, Vol 47, Iss 1 (2024)

مصطلحات موضوعية: Sanfilippo syndrome, Mucopolysaccharidosis IIIB, MPS Brazil Network, lysosomal storage diseases, heparan sulfate, Brazil, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572024000100102&tlng=en; https://doaj.org/toc/1678-4685

URL الوصول: https://doaj.org/article/9b14cf2be01d4608a40766f1a42dd646

المؤلفون: Sharbel W. Maluf, Ricardo Pires, Gisele B. Trombetta, Luiza Dorfman, Verônica Contini, Luís Arruda, Mariluce Riegel

المصدر: Clinical and Biomedical Research, Vol 22, Iss 3 (2022)

مصطلحات موضوعية: Translocação cromossômica, inserção, retardo mental, dismorfias, Medicine

وصف الملف: electronic resource

Relation: https://seer.ufrgs.br/index.php/hcpa/article/view/126173; https://doaj.org/toc/2357-9730

URL الوصول: https://doaj.org/article/17ca0b4cdbba4c6aacb76175449af129

المؤلفون: Sharbel W. Maluf, Mariluce Riegel, Silvio L.W. Almeida Jr, Janaína P. Jaeger, Ana P.B. Souza, Valcinete F. Santana, Luiza E. Dorfman, Gisele B. Trombetta, Alexandre Bacelar, Bernardo Erdtmann

المصدر: Clinical and Biomedical Research, Vol 21, Iss 3 (2022)

مصطلحات موضوعية: Agentes antineoplásicos, síndrome de Down, anemia Fanconi, técnica de micronúcleo, técnica do cometa, Medicine

وصف الملف: electronic resource

Relation: https://seer.ufrgs.br/index.php/hcpa/article/view/126025; https://doaj.org/toc/2357-9730

URL الوصول: https://doaj.org/article/37a2f974130440eaa779fc6007a0e772

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

المصدر: JIMD Reports, Vol 49, Iss 1, Pp 96-106 (2019)

مصطلحات موضوعية: beta‐galactosidase deficiency, Brazil, GM1 gangliosidosis, INAGEMP, late onset, sphingolipidosis, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/1bbbfb537c654eac817e77128b9848d4

المؤلفون: Mariela Granero Farias, Priscila Aparecida Correa Freitas, Fabiane Spagnol, Meriene Viquetti de Souza, Ana Paula Alegretti, Mariluce Riegel, Adriano Nori Rodrigues Taniguchi, Liane Esteves Daudt

المصدر: Revista Paulista de Pediatria, Vol 39 (2020)

مصطلحات موضوعية: Acute monocytic leukemia, Hemophagocytic lymphohistiocytosis, Hemophagocytic syndrome, Macrophage activation syndrome, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822021000100601&tlng=pt; http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822021000100601&tlng=en; https://doaj.org/toc/1984-0462

URL الوصول: https://doaj.org/article/96c576049f554a588ff05c1b4edc10af

المؤلفون: Thiago Corrêa, Fabiano Poswar, Bruno César Feltes, Mariluce Riegel

المصدر: Frontiers in Genetics, Vol 11 (2020)

مصطلحات موضوعية: Cri-du-chat, 4p16.3, PPARGC1A, CTBP1, TRIO, TERT, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2020.00561/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/2412f2ed1d174e6fb7a5e3b59f00582b

المؤلفون: Roberto Giugliani, Andressa Federhen, Kristiane Michelin-Tirelli, Mariluce Riegel, Maira Burin

المصدر: Genetics and Molecular Biology, Vol 40, Iss 1, Pp 31-39 (2017)

مصطلحات موضوعية: Lysosomal storage diseases, epidemiology, reference center, biochemical genetics, Brazil, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000100031&lng=en&tlng=en; https://doaj.org/toc/1678-4685

URL الوصول: https://doaj.org/article/7126ad6f4f3a4e189aaf98e00dbfe4a2

المؤلفون: Thiago Corrêa, Amanda Cristina Venâncio, Marcial Francis Galera, Mariluce Riegel

المصدر: Case Reports in Genetics, Vol 2020 (2020)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-6544; https://doaj.org/toc/2090-6552

URL الوصول: https://doaj.org/article/52847765c48746a5800b7f65d880720c

المؤلفون: Thiago Corrêa, Bruno César Feltes, Mariluce Riegel

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

مصطلحات موضوعية: Cri-du-Chat Syndrome, 5p– cytogenomics, integrative Analysis, PPI, systems biology, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019005013103&lng=en&tlng=en; https://doaj.org/toc/1678-4685

URL الوصول: https://doaj.org/article/ac2743f2d5c3413798920b7a20802eff

المؤلفون: Roberto Giugliani, Fernanda Bender, Rowena Couto, Aline Bochernitsan, Ana Carolina Brusius-Facchin, Maira Burin, Tatiana Amorim, Angelina Xavier Acosta, Antônio Purificação, Sandra Leistner-Segal, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Ursula Matte, Mariluce Riegel, Augusto César Cardoso-dos-Santos, Graziella Rodrigues, Marcelo Zagonel de Oliveira, Alice Tagliani-Ribeiro, Selia Heck, Vanusa Dresch, Lavínia Schuler-Faccini, Francyne Kubaski

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

مصطلحات موضوعية: Population Medical Genetics, genetic clusters, founder effect, population isolates, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019005012101&lng=en&tlng=en; https://doaj.org/toc/1678-4685

URL الوصول: https://doaj.org/article/3b9cfc2431bf4168914bb31ecb58b269

المؤلفون: Cristian Petter, Lilia Maria Azevedo Moreira, Mariluce Riegel

المصدر: Case Reports in Genetics, Vol 2019 (2019)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-6544; https://doaj.org/toc/2090-6552

URL الوصول: https://doaj.org/article/1fb14d5398af41cc9708f0e97cb66a48

المؤلفون: Luiza Emy Dorfman, Júlio César L. Leite, Roberto Giugliani, Mariluce Riegel

المصدر: Jornal de Pediatria, Vol 91, Iss 1, Pp 59-67 (2015)

مصطلحات موضوعية: Defeitos congênitos, Anomalias congênitas, Triagem seletiva de recém-nascidos, Anomalias cromossômicas, Citogenética molecular, CGH-array, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572015000100059&lng=en&tlng=en; https://doaj.org/toc/1678-4782

URL الوصول: https://doaj.org/article/54413670aba347d5809dc294c911082e

المؤلفون: Amanda Dias Lima Morais, Adriana Muradás Girardi, Mariluce Riegel, Alini Vargas, Tatiana Helena Rech

المصدر: Clinical and Biomedical Research, Vol 37, Iss 1 (2017)

مصطلحات موضوعية: diabetes insipidus, leucemia mieloide aguda, monossomia, cromossomo 7, Medicine

وصف الملف: electronic resource

Relation: http://seer.ufrgs.br/index.php/hcpa/article/view/66758; https://doaj.org/toc/0101-5575; https://doaj.org/toc/2357-9730

URL الوصول: https://doaj.org/article/3db1a9dedab94ab084d6c9a6cac7e878

المؤلفون: Mariluce Riegel

المصدر: Genetics and Molecular Biology, Vol 37, Iss 1 suppl 1, Pp 194-209 (2014)

مصطلحات موضوعية: molecular cytogenetics, FISH, array-CGH, copy number variation, genomic disorders, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200006&lng=en&tlng=en; https://doaj.org/toc/1678-4685

URL الوصول: https://doaj.org/article/97c02cc172d64b8cbb54287b5316924d

المؤلفون: Julián Nevado, Rafaella Mergener, María Palomares-Bralo, Karen Regina Souza, Elena Vallespín, Rocío Mena, Víctor Martínez-Glez, María Ángeles Mori, Fernando Santos, Sixto García-Miñaur, Fé García-Santiago, Elena Mansilla, Luis Fernández, María Luisa de Torres, Mariluce Riegel, Pablo Lapunzina

المصدر: Genetics and Molecular Biology, Vol 37, Iss 1 suppl 1, Pp 210-219 (2014)

مصطلحات موضوعية: microdeletion, microduplication, chromosome rearrangement, novel deletions, novel duplications, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200007&lng=en&tlng=en; https://doaj.org/toc/1678-4685

URL الوصول: https://doaj.org/article/6101bc0de0dd4288ba9efef3ffc10c8e

المؤلفون: Bruna Oliveira, Letícia da Cunha Veber, Têmis Maria Félix, Mariluce Riegel, Isabel Cristina Bandeira da Silva, Carla Streit, Sandra Leistner-Segal

المصدر: Clinical and Biomedical Research, Vol 36, Iss 2 (2016)

مصطلحات موضوعية: metilação, imprinting, Prader-Willi, Angelman, Medicine

وصف الملف: electronic resource

Relation: http://seer.ufrgs.br/hcpa/article/view/64823; https://doaj.org/toc/0101-5575; https://doaj.org/toc/2357-9730

URL الوصول: https://doaj.org/article/1a6b76b3a65840bdbd01bb6e99792b83

المؤلفون: Osvaldo Artigalás, Giorgio Paskulin, Mariluce Riegel, Maira Burin, Maria Luiza Saraiva-Pereira, Sharbel Maluf, Andrea Kiss, Ida Vanessa D. Schwartz

المصدر: Genetics and Molecular Biology, Vol 35, Iss 2, Pp 424-427 (2012)

مصطلحات موضوعية: 22q13 deletion, apparently balanced translocation, ARSA gene, arylsulfatase A pseudodeficiency, metachromatic leukodystrophy, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000300007; https://doaj.org/toc/1415-4757; https://doaj.org/toc/1678-4685

URL الوصول: https://doaj.org/article/227c1a8ecd614055a8c358884db35929

المؤلفون: Mariluce Riegel, Nathália Barcellos, Rafaella Mergener, Karen Regina Silva de Souza, Júlio César Loguercio Leite, Rejane Gus, Lilia Maria Azevedo Moreira, Roberto Giugliani

المصدر: Clinical and Biomedical Research, Vol 34, Iss 4 (2014)

مصطلحات موضوعية: Molecular cytogenetics, microdeletion syndrome, FISH, array-CGH, Medicine

وصف الملف: electronic resource

Relation: http://seer.ufrgs.br/hcpa/article/view/50295; https://doaj.org/toc/0101-5575; https://doaj.org/toc/2357-9730

URL الوصول: https://doaj.org/article/9722cfa8ac53483281a24f66cac910e3

المؤلفون: Rafaella Mergener, Marcela Rodrigues Nunes, Ana Kalise Böttcher, Monique Banik Siqueira, Helena Froener Peruzzo, Milene Carvalho Merola, Mariluce Riegel, Paulo Ricardo Gazzola Zen

المصدر: Genes, Vol 15, Iss 7, p 910 (2024)

مصطلحات موضوعية: inversion, duplication, chromosome 8, cleft lip/palate, neuropsychomotor development delay, Genetics, QH426-470

Relation: https://www.mdpi.com/2073-4425/15/7/910; https://doaj.org/toc/2073-4425; https://doaj.org/article/17c71854f5c44d689fff6431e6d5c911

الاتاحة: https://doi.org/10.3390/genes15070910
https://doaj.org/article/17c71854f5c44d689fff6431e6d5c911

المؤلفون: Taiane Alves Vieira, Franciele Barbosa Trapp, Carolina Fischinger Moura de Souza, Lavínia Schuler Faccini, Laura Bannach Jardim, Ida Vanessa Doederlein Schwartz, Mariluce Riegel, Carmen Regla Vargas, Maira Graeff Burin, Sandra Leistner-Segal, Patrícia Ashton-Prolla, Roberto Giugliani

المصدر: Genetics and Molecular Biology, Iss 0

مصطلحات موضوعية: Information services, Medical Genetics, diagnostic networks, rare diseases, reference centers, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019005023102&lng=en&tlng=en; https://doaj.org/toc/1678-4685

URL الوصول: https://doaj.org/article/7a0127a97053453cb729ce29c52ff6fb