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1دورية أكاديمية
المؤلفون: Karla de Oliveira Pelegrino, Sofia Sugayama, Karina Lezirovitz, Ana Lúcia Catelani, Fernando Kok, Maria de Lourdes Chauffaille
المصدر: Clinics, Vol 67, Iss 8, Pp 981-985 (2012)
مصطلحات موضوعية: Medicine (General), R5-920
وصف الملف: electronic resource
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المؤلفون: Rodrigo Fernandes Ramalho, Michele Groenner Penna, Wagner A.R. Baratela, Shirley Dezan Matalhana, Cintia Reys Furuzawa, Ana Lígia Buzolin, Gil M. Novo-Filho, Maria de Lourdes Lopes Ferrari Chauffaille, Aurelio Pimenta Dutra, Gustavo Marquezani Spolador, Vinícius Ceola Pereira, Aline Dos Santos Borgo Perazzio, Chong Ae Kim, Otavio Jose Eulalio Pereira, Ana Lúcia Catelani, Alexandre Ricardo dos Santos Fornari, Monize Nakamoto Provisor Santos, Javier Miguelez, Vanessa Galdeno Freitas, Vanessa Dionisio Cantagalli, Ana Carolina Gomes Trindade, Patricia Rossi Sacramento-Bobotis, Daniele Paixão, Caroline Olivati, Gustavo Arantes Rosa Maciel, Caio Robledo D'Angioli Costa Quaio, Mário Henrique Burlacchini de Carvalho, Elisa Napolitano Ferreira, Fernanda Verzini, Rafael Alves da Silva, Vanessa Yurie Nozaki de Arruda, David Santos Marco Antonio, Alexandre Wagner Silva de Souza, Naiade Romano, Viviane Z. Rocha, Caroline Monaco Moreira, Rafaela Rogerio Floriano de Sousa, Miguel Mitne-Neto, Matheus Carvalho Bürger, Sandro Félix Perazzio, Luis Eduardo Coelho Andrade, Maria Carolina Pintao, Andre Yuji Oku
المصدر: American journal of medical genetics. Part C, Seminars in medical geneticsREFERENCES. 184(4)
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, medicine.medical_treatment, Consanguinity, 030105 genetics & heredity, Targeted therapy, Cohort Studies, 03 medical and health sciences, Liver disease, Rare Diseases, Pregnancy, Internal medicine, Exome Sequencing, Genetics, Medicine, Humans, Exome, Clinical care, Child, Genetics (clinical), Exome sequencing, business.industry, medicine.disease, 030104 developmental biology, Cohort, Life expectancy, Female, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac1f1b47f0c825ea9c12a5db9076f3b2
https://pubmed.ncbi.nlm.nih.gov/33258288 -
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المؤلفون: Karla de Oliveira Pelegrino, Ana Lúcia Catelani, Fernando Kok, Karina Lezirovitz, Sofia Mizuho Miura Sugayama, Maria de Lourdes Lopes Ferrari Chauffaille
المصدر: Molecular Cytogenetics, Vol 6, Iss 1, p 2 (2013)
Molecular Cytogeneticsمصطلحات موضوعية: medicine.medical_specialty, Microcephaly, lcsh:QH426-470, Developmental delay, 7q deletion, Case Report, Biology, Bioinformatics, Biochemistry, 9p duplication, Gene duplication, medicine, Genetics, Genetics(clinical), Multiplex ligation-dependent probe amplification, Molecular Biology, Genetics (clinical), Biochemistry, medical, Muscular hypotonia, Biochemistry (medical), Breakpoint, Cytogenetics, medicine.disease, Hypoplasia, aCGH array, lcsh:Genetics, Molecular Medicine, Comparative genomic hybridization
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4
المؤلفون: Ana Cristina Victorino Krepischi, M. T. B. M. Auricchio, Paulo Alberto Otto, Juliana F. Mazzeu, Daniela T. Uehara, Jeroen Knijnenburg, Silvia S. Costa, Fernando Kok, Angela Maria Vianna-Morgante, Chong Ae Kim, Carla Rosenberg, Regina Célia Mingroni-Netto, Ana Lúcia Catelani, A. Tabith
المصدر: Clinical genetics. 76(5)
مصطلحات موضوعية: Genetics, Male, Comparative Genomic Hybridization, Hearing loss, Gene Dosage, Chromosome, Chromosomal rearrangement, Syndrome, Biology, Gene dosage, Disease etiology, Chromosome instability, Child, Preschool, Chromosomal Instability, otorhinolaryngologic diseases, medicine, Humans, Female, medicine.symptom, Child, Hearing Loss, Genetics (clinical), Comparative genomic hybridization
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5
المؤلفون: Willem C. R. Sloos, Karoly Szuhai, Carla Rosenberg, Jeroen Knijnenburg, Decio Brunoni, Ana Lúcia Catelani, Maria de Lourdes Lopes Ferrari Chauffaille, Hans J. Tanke
المصدر: Human genetics. 116(5)
مصطلحات موضوعية: Genetics, Chromosome Aberrations, Male, Breakpoint, Chromosome, Chromosome Mapping, Karyotype, Chromosomal translocation, Chromosome Breakage, Chromosomal rearrangement, Child Behavior Disorders, Biology, Genome, Translocation, Genetic, Chromosome Banding, Position effect, Child, Preschool, Humans, Language Development Disorders, Chromosome breakage, Genetics (clinical), In Situ Hybridization, Fluorescence