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1دورية 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
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2دورية أكاديمية
المؤلفون: Andrew J. G. Simpson, Emmanuel Dias Neto, Teofania H. D. A. Vidigal, Heloísa B. Pena, Omar S. Carvalho, Sergio D. J. Pena
المصدر: Memorias do Instituto Oswaldo Cruz, Vol 90, Iss 2, Pp 211-213 (1995)
مصطلحات موضوعية: schistosomes, Biomphalaria glabrata, DNA, polymorphisms, PCR, Microbiology, QR1-502, Infectious and parasitic diseases, RC109-216
وصف الملف: electronic resource
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3
المصدر: Genetics and Molecular Research. 21
مصطلحات موضوعية: Genetics, General Medicine, Molecular Biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2597cef83ca6bafe314890fddf41222c
https://doi.org/10.4238/gmr19082 -
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المؤلفون: Juliane L.F. Rocha, Heloísa B. Pena, Sérgio D.J. Pena
المصدر: Genetics and Molecular Research. 21
مصطلحات موضوعية: Genetics, General Medicine, Molecular Biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::795f4d05ffeaa9b1dd00bdbdb7ca62e6
https://doi.org/10.4238/gmr19067 -
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المؤلفون: Thaís Maria da Mata Martins, Alice Machado-Silva, Sérgio D.J. Pena, Raquel C. Melo-Minardi, Fernanda C. Soardi, Ge Zheng, Dawidson Assis Gomes, Helaine Graziele Santos Vieira, Carolina Cavaliéri Gomes, David B. Ascher, Heloísa B. Pena, Natália D. Linhares, Hongtao Yu, Qianhui Qu, Núbia Braga Pereira, Ricardo Santiago Gomez, Douglas E. V. Pires
المصدر: npj Genomic Medicine, Vol 2, Iss 1, Pp 1-11 (2017)
مصطلحات موضوعية: 0301 basic medicine, Genetics, Mutation, Cohesin, Mutant, QH426-470, Biology, Gene mutation, medicine.disease_cause, 3. Good health, Establishment of sister chromatid cohesion, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Germline mutation, medicine, Medicine, Molecular Biology, Gene, 030217 neurology & neurosurgery, Genetics (clinical), X chromosome
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6Accurate, Fast and Cost-Effective Diagnostic Test for Monosomy 1p36 Using Real-Time Quantitative PCR
المؤلفون: Lisa G. Shaffer, Heloísa B. Pena, Martin Stofanko, Higgor Gonçalves-Dornelas, Pricila da Silva Cunha, Sérgio Danilo Junho Pena, Célia Priszkulnik Koiffmann, Carla S. D'Angelo, Jill A. Rosenfeld
المصدر: Disease Markers
Disease Markers, Vol 2014 (2014)
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USPمصطلحات موضوعية: DOENÇAS GENÉTICAS, Genetic Markers, Male, Monosomy, Diagnostic methods, Article Subject, Microarray, Cost-Benefit Analysis, Clinical Biochemistry, Computational biology, Biology, Real-Time Polymerase Chain Reaction, Genetics, medicine, Humans, Multiplex, Multiplex ligation-dependent probe amplification, Molecular Biology, lcsh:R5-920, Biochemistry (medical), Diagnostic test, General Medicine, medicine.disease, Real-time polymerase chain reaction, Molecular Diagnostic Techniques, Chromosomes, Human, Pair 1, Female, Chromosome Deletion, lcsh:Medicine (General), Research Article, Comparative genomic hybridization
وصف الملف: text/xhtml
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المؤلفون: Joan C. Han, Heloísa B. Pena, Sérgio Danilo Junho Pena, Martin Stofanko, Higgor Gonçalves-Dornelas, Sarah H. Elsea
المصدر: Disease markers
Disease Markers, Vol 35, Iss 6, Pp 589-594 (2013)مصطلحات موضوعية: Male, Article Subject, DNA Copy Number Variations, Clinical Biochemistry, Chromosome Disorders, Biology, Polymerase Chain Reaction, Public healthcare, law.invention, 03 medical and health sciences, 0302 clinical medicine, law, Genetics, medicine, Humans, Base sequence, Copy-number variation, Genetic Testing, Molecular Biology, Polymerase chain reaction, 030304 developmental biology, Genetic testing, DNA Primers, Chromosome Aberrations, lcsh:R5-920, 0303 health sciences, medicine.diagnostic_test, Base Sequence, Fluorescent pcr, Genome, Human, Biochemistry (medical), General Medicine, Dna amplification, 3. Good health, Molecular Diagnostic Techniques, ROC Curve, Case-Control Studies, Human genome, Female, lcsh:Medicine (General), 030217 neurology & neurosurgery, Research Article
وصف الملف: text/xhtml
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المؤلفون: Heloísa B. Pena, Carlos A. Bacino, Sérgio D.J. Pena, Natália D. Linhares, Raony Guimaraes Corrêa Do Carmo Lisboa Cardenas, Bruno Delobel, Katherine Lachlan, Göran Annerén, Bruno Dallapiccola, Ann-Charlotte Thuresson, Paul A. James, Maíra C.M. Freire
المصدر: Genetics and Molecular Biology, Volume: 39, Issue: 3, Pages: 349-357, Published: 04 AUG 2016
Genetics and Molecular Biology, Vol 39, Iss 3, Pp 349-357
Genetics and Molecular Biology v.39 n.3 2016
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBGمصطلحات موضوعية: 0301 basic medicine, Neuroblastoma RAS viral oncogene homolog, lcsh:QH426-470, Medicinska och farmaceutiska grundvetenskaper, Hemizygosity, MAP2K2, Biology, RASopathy, 03 medical and health sciences, Noonan syndrome type 6, Genetics, medicine, Molecular Biology, Exome sequencing, unmasking heterozygosity, 1p13.2 deletion, Basic Medicine, medicine.disease, NRAS gene, 3. Good health, PTPN11, lcsh:Genetics, 030104 developmental biology, Special Series of Articles - 60 Years of The Brazilian Society of Genetics, Noonan syndrome, Haploinsufficiency
وصف الملف: text/html; application/pdf; text
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88430f0293e6bedcbe1f718487fd83d6
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000300349&lng=en&tlng=en -
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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
مصطلحات موضوعية: biological phenomena, cell phenomena, and immunity, Article
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المؤلفون: Magda Bahia, Raony Guimaraes Corrêa Do Carmo Lisboa Cardenas, Sérgio D.J. Pena, Natália D. Linhares, Maíra C.M. Freire, Heloísa B. Pena
المصدر: European Journal of Medical Genetics. 61:106
مصطلحات موضوعية: 0301 basic medicine, Genetics, Herpesvirus 4, Human, business.industry, Infantile myofibromatosis, Muscle Proteins, Myofibromatosis, Nerve Tissue Proteins, General Medicine, medicine.disease, 03 medical and health sciences, 030104 developmental biology, Leiomyomatosis, Mutation, Mutation (genetic algorithm), Humans, Medicine, Exome, business, Genetics (clinical), Exome sequencing