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1دورية أكاديمية
المؤلفون: Filipe Brum Machado, Fabricio Brum Machado, Milena Amendro Faria, Viviane Lamim Lovatel, Antonio Francisco Alves da Silva, Claudia Pamela Radic, Carlos Daniel De Brasi, Álvaro Fabricio Lopes Rios, Susana Marina Chuva de Sousa Lopes, Leonardo Serafim da Silveira, Carlos Ramon Ruiz-Miranda, Ester Silveira Ramos, Enrique Medina-Acosta
المصدر: PLoS ONE, Vol 9, Iss 7, p e103714 (2014)
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Liliana C. Rossetti, Claudia Pamela Radic, Miguel Candela, Raúl Pérez Bianco, Miguel de Tezanos Pinto, Anne Goodeve, Irene B. Larripa, Carlos D. De Brasi
المصدر: Haematologica, Vol 92, Iss 6 (2007)
مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5
وصف الملف: electronic resource
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المؤلفون: María Micaela Carcione, Carlos Daniel de Brasi, Liliana Francipane, Julián Nevado, Pablo Lapunzina, Irena Szijan, Leonela Natalia Luce, Miguel Martin Abelleyro, Chiara Mazzanti, Liliana Carmen Rossetti, Florencia Giliberto, Sebastián Menazzi, Claudia Pamela Radic
المصدر: Neuromuscular Disorders. 29:S170-S171
مصطلحات موضوعية: Genetics, Familial case, Neurology, Deletion+duplication, Pediatrics, Perinatology and Child Health, Neurology (clinical), Biology, Skewed X-inactivation, Genetics (clinical)
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4
المؤلفون: Claudia Pamela Radic, Miguel Martin Abelleyro, Vanina Daniela Marchione, Tomás Tetzlaff, Karen Waisman, D. Neme, Liliana Carmen Rossetti, Carlos Daniel de Brasi
المصدر: Human mutationREFERENCES. 41(4)
مصطلحات موضوعية: Male, Biology, Hemophilia A, Severity of Illness Index, 03 medical and health sciences, chemistry.chemical_compound, Chromosome Breakpoints, Genetics, Humans, Genetic Predisposition to Disease, Nucleotide Motifs, Genetics (clinical), Genetic Association Studies, 030304 developmental biology, Recombination, Genetic, 0303 health sciences, Factor VIII, Mechanism (biology), 030305 genetics & heredity, Breakpoint, Computational Biology, Genetic Variation, Phenotype, chemistry, Severe phenotype, Genetic Loci, Mutation, Nucleic Acid Conformation, DNA
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5
المؤلفون: Vanina Daniela Marchione, Enrique Medina-Acosta, Miguel Martin Abelleyro, Micaela Palmitelli, Claudia Pamela Radic, Carlos Daniel de Brasi, Liliana Carmen Rossetti, Irene Larripa, D. Neme
المصدر: CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICETمصطلحات موضوعية: Genetic Markers, Male, CIENCIAS MÉDICAS Y DE LA SALUD, Genotype, Genética Humana, Locus (genetics), Computational biology, Biology, Preimplantation genetic diagnosis, STR, Hemophilia A, Polymerase Chain Reaction, Article, 03 medical and health sciences, Pregnancy, Genetics, Humans, Allele, Genetics (clinical), Alleles, Preimplantation Diagnosis, 0303 health sciences, Massive parallel sequencing, 030305 genetics & heredity, Haplotype, HEMA, purl.org/becyt/ford/3.1 [https], Introns, Medicina Básica, Haplotypes, Genetic marker, Microsatellite, purl.org/becyt/ford/3 [https], Female, F8, INV22, Microsatellite Repeats
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6a1782c9b04f11f9dbcf029b79aa974
https://europepmc.org/articles/PMC6460640/ -
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المؤلفون: Maria de Los Angeles Curto, Claudia Pamela Radic, Liliana Carmen Rossetti, Miguel Martin Abelleyro, Carlos Daniel de Brasi, Vanina Daniela Marchione
المصدر: Thrombosis and Haemostasis. 115:678-681
مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, CIENCIAS MÉDICAS Y DE LA SALUD, Genotype, Genetic Linkage, HA, macromolecular substances, 030204 cardiovascular system & hematology, 030105 genetics & heredity, Biology, Hemophilia A, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Xq28, Genetic linkage, hemic and lymphatic diseases, medicine, Humans, SNP, Genetic Testing, Allele, Alleles, Genetic testing, Chromosomal inversion, Genetics, Factor VIII, HEMOPHILIA, medicine.diagnostic_test, Intron, Patología, Hematology, Bioquímica y Biología Molecular, Introns, Pedigree, Medicina Básica, Chromosome Inversion, Female, Gene Deletion, F8, INV22
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7788c6596259a5ea0906de3cc7c347bb
https://doi.org/10.1160/th15-08-0643 -
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المؤلفون: M. M. Abelleyro, D. Neme, C. D. De Brasi, Vanina Daniela Marchione, L. Elhelou, Liliana Carmen Rossetti, Claudia Pamela Radic
مصطلحات موضوعية: 0301 basic medicine, Genetics, Family health, Mutation, CIENCIAS MÉDICAS Y DE LA SALUD, Somatic cell, Mosaicism, Haemophilia A, Genética Humana, Hematology, 030204 cardiovascular system & hematology, Gene deletion, Biology, medicine.disease_cause, medicine.disease, Phenotype, 03 medical and health sciences, Medicina Básica, 030104 developmental biology, 0302 clinical medicine, Genotype, medicine, Germinal mosaicism, Hemophilia, F8
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cd27ff4b43fe1ada8276b666c13bb08
https://europepmc.org/article/med/29534251 -
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المؤلفون: M. Candela, M. Bonduel, M. M. Abelleyro, Irene Larripa, G. Sciuccati, D. Neme, Claudia Pamela Radic, Tomás Tetzlaff, Enrique Medina-Acosta, M. de Tezanos Pinto, C. D. De Brasi, Liliana Carmen Rossetti
المصدر: Journal of Thrombosis and Haemostasis. 13:530-539
مصطلحات موضوعية: Adult, Genetic Markers, Heterozygote, Heredity, CIENCIAS MÉDICAS Y DE LA SALUD, Adolescent, Inmunología, Biology, Hemophilia A, Severity of Illness Index, X-inactivation, Young Adult, chemistry.chemical_compound, Risk Factors, X Chromosome Inactivation, hemic and lymphatic diseases, Humans, Genetic Predisposition to Disease, Heterozygous carrier, Child, F8 protein, Genetic Association Studies, X chromosome, Genetics, Chromosomes, Human, X, Factor VIII, Androgen Receptor Gene, Infant, Hematology, Middle Aged, Phenotype, Molecular biology, Pedigree, X-linked genetic diseases, Medicina Básica, chemistry, Receptors, Androgen, Biological significance, Case-Control Studies, Child, Preschool, Mutation, Phenotype genotype, Female, hemophilia A, X chromosome inactivation, DNA
وصف الملف: application/pdf
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المؤلفون: M. Candela, M. M. Abelleyro, Claudia Pamela Radic, C. D. De Brasi, Vanina Daniela Marchione, M. de Tezanos Pinto, Liliana Carmen Rossetti, J. R. Zuccoli, D. Neme
مصطلحات موضوعية: medicine.medical_specialty, CIENCIAS MÉDICAS Y DE LA SALUD, Genotype, Argentina, Mutation, Missense, Genética Humana, 030204 cardiovascular system & hematology, Hemophilia A, 03 medical and health sciences, Ctla4, 0302 clinical medicine, Medicine, Missense mutation, Humans, CTLA-4 Antigen, Genetics (clinical), Gynecology, Factor VIII, business.industry, Inhibitors, Hematology, General Medicine, Medicina Básica, Mutation (genetic algorithm), Severe haemophilia A, business, F8, 030215 immunology
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::682b1c701b07f37ce5f17883e77841c9
https://onlinelibrary.wiley.com/doi/abs/10.1111/hae.13194 -
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المؤلفون: Miguel Martin Abelleyro, Irene Larripa, Liliana Carmen Rossetti, Carlos Daniel de Brasi, Claudia Pamela Radic
المصدر: International Journal of Molecular Sciences, Vol 12, Iss 10, Pp 7271-7285 (2011)
International Journal of Molecular Sciences
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICETمصطلحات موضوعية: INTRON 22 INVERSIONS, CIENCIAS MÉDICAS Y DE LA SALUD, Genotype, Genética Humana, Review, Biology, Hemophilia A, intron 22 inversions, Severe hemophilia A, Polymerase Chain Reaction, Catalysis, lcsh:Chemistry, Inorganic Chemistry, Intron 22 inversion, Humans, Physical and Theoretical Chemistry, lcsh:QH301-705.5, Molecular Biology, Genotyping, Spectroscopy, Southern blot, Gene Rearrangement, Genetics, Factor VIII, Sequence Inversion, Organic Chemistry, LD-PCR, HEMA, purl.org/becyt/ford/3.1 [https], DNA, General Medicine, Molecular genotyping, Computer Science Applications, Blotting, Southern, Medicina Básica, lcsh:Biology (General), lcsh:QD1-999, IS-PCR, purl.org/becyt/ford/3 [https], F8
وصف الملف: application/pdf