المؤلفون: Caio Robledo D’Angioli Costa Quaio, José Ricardo Magliocco Ceroni, Michele Araújo Pereira, Anne Caroline Barbosa Teixeira, Renata Yoshiko Yamada, Vivian Pedigone Cintra, Eduardo Perrone, Marina De França, Kelin Chen, Renata Moldenhauer Minillo, Cheysa Arielly Biondo, Mariana Rezende Bandeira de Mello, Lais Rodrigues Moura, Amanda Thamires Batista do Nascimento, Karla de Oliveira Pelegrino, Larissa Barbosa de Lima, Luiza do Amaral Virmond, Carolina Araujo Moreno, Joana Rosa Marques Prota, Jessica Grasiela de Araujo Espolaor, Thiago Yoshinaga Tonholo Silva, Gabriel Hideki Izuka Moraes, Gustavo Santos de Oliveira, Livia Maria Silva Moura, Marcel Pinheiro Caraciolo, Rafael Lucas Muniz Guedes, Michel Chieregato Gretschischkin, Pedro Lui Nigro Chazanas, Carolina Naomi Izo Nakamura, Rodrigo de Souza Reis, Carmen Melo Toledo, Fernanda Stussi Duarte Lage, Giovanna Bloise de Almeida, José Bandeira do Nascimento Júnior, Milena Andreuzo Cardoso, Victor de Paula Azevedo, Tatiana Ferreira de Almeida, Murilo Castro Cervato, Joao Bosco de Oliveira Filho

المصدر: Human Genomics, Vol 17, Iss 1, Pp 1-15 (2023)

مصطلحات موضوعية: Variant classification, Sequence variant, Genetic testing, Genomics, Guideline, Brazil, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/0c95d03f938a4487814f7372787d1492

المؤلفون: Michel S. Naslavsky, Marilia O. Scliar, Guilherme L. Yamamoto, Jaqueline Yu Ting Wang, Stepanka Zverinova, Tatiana Karp, Kelly Nunes, José Ricardo Magliocco Ceroni, Diego Lima de Carvalho, Carlos Eduardo da Silva Simões, Daniel Bozoklian, Ricardo Nonaka, Nayane dos Santos Brito Silva, Andreia da Silva Souza, Heloísa de Souza Andrade, Marília Rodrigues Silva Passos, Camila Ferreira Bannwart Castro, Celso T. Mendes-Junior, Rafael L. V. Mercuri, Thiago L. A. Miller, Jose Leonel Buzzo, Fernanda O. Rego, Nathalia M. Araújo, Wagner C. S. Magalhães, Regina Célia Mingroni-Netto, Victor Borda, Heinner Guio, Carlos P. Rojas, Cesar Sanchez, Omar Caceres, Michael Dean, Mauricio L. Barreto, Maria Fernanda Lima-Costa, Bernardo L. Horta, Eduardo Tarazona-Santos, Diogo Meyer, Pedro A. F. Galante, Victor Guryev, Erick C. Castelli, Yeda A. O. Duarte, Maria Rita Passos-Bueno, Mayana Zatz

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-11 (2022)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/363cefb9d1d14e1f9adc1fe81f04cd3f

المؤلفون: Michel S. Naslavsky, Marilia O. Scliar, Guilherme L. Yamamoto, Jaqueline Yu Ting Wang, Stepanka Zverinova, Tatiana Karp, Kelly Nunes, José Ricardo Magliocco Ceroni, Diego Lima de Carvalho, Carlos Eduardo da Silva Simões, Daniel Bozoklian, Ricardo Nonaka, Nayane dos Santos Brito Silva, Andreia da Silva Souza, Heloísa de Souza Andrade, Marília Rodrigues Silva Passos, Camila Ferreira Bannwart Castro, Celso T. Mendes-Junior, Rafael L. V. Mercuri, Thiago L. A. Miller, Jose Leonel Buzzo, Fernanda O. Rego, Nathalia M. Araújo, Wagner C. S. Magalhães, Regina Célia Mingroni-Netto, Victor Borda, Heinner Guio, Carlos P. Rojas, Cesar Sanchez, Omar Caceres, Michael Dean, Mauricio L. Barreto, Maria Fernanda Lima-Costa, Bernardo L. Horta, Eduardo Tarazona-Santos, Diogo Meyer, Pedro A. F. Galante, Victor Guryev, Erick C. Castelli, Yeda A. O. Duarte, Maria Rita Passos-Bueno, Mayana Zatz

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-1 (2022)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/ff914ecb35074c19bb66b71e9811e0de

المؤلفون: Caio Robledo D.’Angioli Costa Quaio, Jose Ricardo Magliocco Ceroni, Murilo Castro Cervato, Helena Strelow Thurow, Caroline Monaco Moreira, Ana Carolina Gomes Trindade, Cintia Reys Furuzawa, Rafaela Rogerio Floriano de Souza, Sandro Felix Perazzio, Aurelio Pimenta Dutra, Christine Hsiaoyun Chung, Chong Ae Kim

المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-9 (2022)

مصطلحات موضوعية: Medicine, Science

Relation: https://doi.org/10.1038/s41598-022-11932-z; https://doaj.org/toc/2045-2322; https://doaj.org/article/51ea75e117a14da691f1eb3ce1e22895

الاتاحة: https://doi.org/10.1038/s41598-022-11932-z
https://doaj.org/article/51ea75e117a14da691f1eb3ce1e22895

المؤلفون: Caio Robledo D’ Angioli Costa Quaio, Antonio Victor Campos Coelho, Livia Maria Silva Moura, Rafael Lucas Muniz Guedes, Kelin Chen, Jose Ricardo Magliocco Ceroni, Renata Moldenhauer Minillo, Marcel Pinheiro Caraciolo, Rodrigo de Souza Reis, Bruna Mascaro Cordeiro de Azevedo, Maria Soares Nobrega, Anne Caroline Barbosa Teixeira, Matheus Martinelli Lima, Thamara Rayssa da Mota, Marina Cadena da Matta, Gabriela Borges Cherulli Colichio, Aline Lulho Roncalho, Ana Flavia Martinho Ferreira, Gabriela Pereira Campilongo, Eduardo Perrone, Luiza do Amaral Virmond, Carolina Araujo Moreno, Joana Rosa Marques Prota, Marina de França, Murilo Castro Cervato, Tatiana Ferreira de Almeida, Joao Bosco de Oliveira Filho

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: nonsyndromic hearing loss, hearing loss, deafness, genomics, whole genome sequencing, GJB2 (C×26) gene mutations, Genetics, QH426-470

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.921324/full; https://doaj.org/toc/1664-8021; https://doaj.org/article/a725ec5d20214dbdb3f344e4e8fcf56f

الاتاحة: https://doi.org/10.3389/fgene.2022.921324
https://doaj.org/article/a725ec5d20214dbdb3f344e4e8fcf56f

المؤلفون: Denise Maria Christofolini, José Ricardo Magliocco Ceroni, Giovanna Guimarães Soares, Gustavo Bertollini Lamy, Ana Carolina Nemeth Calvo, Tamara Alba dos Santos, Bianca Del Bel Sonoda, Bianca Bianco, Caio Parente Barbosa

المصدر: Einstein (São Paulo), Vol 17, Iss 3

مصطلحات موضوعية: Epidermólise bolhosa distrófica, Colágeno tipo VII, Membrana basal, Hereditariedade, Aconselhamento genético, Medicine

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082019000300500&lng=en&tlng=en; https://doaj.org/toc/2317-6385

URL الوصول: https://doaj.org/article/ba07860856844da384e1020391c9d725

المؤلفون: Ken Saida, Reza Maroofian, Toru Sengoku, Tadahiro Mitani, Alistair T. Pagnamenta, Dana Marafi, Maha S. Zaki, Thomas J. O’Brien, Ehsan Ghayoor Karimiani, Rauan Kaiyrzhanov, Marina Takizawa, Sachiko Ohori, Huey Yin Leong, Gulsen Akay, Hamid Galehdari, Mina Zamani, Ratna Romy, Christopher J. Carroll, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Hadis Malek, Najmeh Ahangari, Hoda Tomoum, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, David Murphy, Natalia Dominik, Hasnaa M. Elbendary, Karima Rafat, Sanem Yilmaz, Seda Kanmaz, Mine Serin, Deepa Krishnakumar, Alice Gardham, Anna Maw, Tekki Sreenivasa Rao, Sarah Alsubhi, Myriam Srour, Daniela Buhas, Tamison Jewett, Rachel E. Goldberg, Hanan Shamseldin, Eirik Frengen, Doriana Misceo, Petter Strømme, José Ricardo Magliocco Ceroni, Chong Ae Kim, Gozde Yesil, Esma Sengenc, Serhat Guler, Mariam Hull, Mered Parnes, Dilek Aktas, Banu Anlar, Yavuz Bayram, Davut Pehlivan, Jennifer E. Posey, Shahryar Alavi, Seyed Ali Madani Manshadi, Hamad Alzaidan, Mohammad Al-Owain, Lama Alabdi, Ferdous Abdulwahab, Futoshi Sekiguchi, Kohei Hamanaka, Atsushi Fujita, Yuri Uchiyama, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Reem M. Elshafie, Kamran Salayev, Ulviyya Guliyeva, Fowzan S. Alkuraya, Joseph G. Gleeson, Kristin G. Monaghan, Katherine G. Langley, Hui Yang, Mahsa Motavaf, Saeid Safari, Mozhgan Alipour, Kazuhiro Ogata, André E.X. Brown, James R. Lupski, Henry Houlden, Naomichi Matsumoto

مصطلحات موضوعية: Dystonia, VMAT2, Brain monoamine vesicular transport disease, Dopamine agonist, SLC18A2, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40233c210f0a1535cbb0ddd886c14d67
https://hdl.handle.net/11454/79547

المؤلفون: Jose Ricardo Magliocco Ceroni, Diogo Cordeiro de Queiroz Soares, Larissa de Cássia Testai, Rachel Sayuri Honjo Kawahira, Guilherme Lopes Yamamoto, Sofia Mizuho Miura Sugayama, Luiz Antonio Nunes de Oliveira, Debora Romeo Bertola, Chong Ae Kim

المصدر: Clinics, Vol 73, Iss 0 (2018)

مصطلحات موضوعية: Achondroplasia, Natural History, Growth, FGFR3, Medicine (General), R5-920

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322018000100238&lng=en&tlng=en; https://doaj.org/toc/1980-5322; https://doaj.org/article/4af4818321bd470e8e1042424cd170a0

الاتاحة: https://doi.org/10.6061/clinics/2018/e324
https://doaj.org/article/4af4818321bd470e8e1042424cd170a0

المؤلفون: Michel S, Naslavsky, Marilia O, Scliar, Guilherme L, Yamamoto, Jaqueline Yu Ting, Wang, Stepanka, Zverinova, Tatiana, Karp, Kelly, Nunes, José Ricardo Magliocco, Ceroni, Diego Lima, de Carvalho, Carlos Eduardo, da Silva Simões, Daniel, Bozoklian, Ricardo, Nonaka, Nayane, Dos Santos Brito Silva, Andreia, da Silva Souza, Heloísa, de Souza Andrade, Marília Rodrigues Silva, Passos, Camila Ferreira Bannwart, Castro, Celso T, Mendes-Junior, Rafael L V, Mercuri, Thiago L A, Miller, Jose Leonel, Buzzo, Fernanda O, Rego, Nathalia M, Araújo, Wagner C S, Magalhães, Regina Célia, Mingroni-Netto, Victor, Borda, Heinner, Guio, Carlos P, Rojas, Cesar, Sanchez, Omar, Caceres, Michael, Dean, Mauricio L, Barreto, Maria Fernanda, Lima-Costa, Bernardo L, Horta, Eduardo, Tarazona-Santos, Diogo, Meyer, Pedro A F, Galante, Victor, Guryev, Erick C, Castelli, Yeda A O, Duarte, Maria Rita, Passos-Bueno, Mayana, Zatz

المساهمون: Universidade de São Paulo (USP), Hospital Israelita Albert Einstein, Harvard Medical School, Laboratório DASA, University Medical Center Groningen, Universidade Estadual Paulista (UNESP), Hospital Sirio-Libanes, Universidade Federal de Minas Gerais (UFMG), Instituto Mário Penna, Instituto Nacional de Salud, Universidad de Huánuco, National Cancer Institute, Universidade Federal da Bahia (UFBA), Fundação Oswaldo Cruz, Universidade Federal de Pelotas, Universidad Peruana Cayetano Heredia

المصدر: Scopus
Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP

مصطلحات موضوعية: Whole Genome Sequencing, Haplotypes, Genome, Human, Humans, Rare variants, Genomics, Metagenomics, Structural variation, Polymorphism, Single Nucleotide, Data publication and archiving, Brazil, Mobile elements, Aged

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::eee43a010a6ca6a55a0673ada3ebe2e0
https://hdl.handle.net/20.500.12866/11497

المؤلفون: Caio Robledo D’ Angioli Costa Quaio, Antonio Victor Campos Coelho, Livia Maria Silva Moura, Rafael Lucas Muniz Guedes, Kelin Chen, Jose Ricardo Magliocco Ceroni, Renata Moldenhauer Minillo, Marcel Pinheiro Caraciolo, Rodrigo de Souza Reis, Bruna Cordeiro de Mascaro, Maria Soares Nobrega, Anne Caroline Barbosa Teixeira, Matheus Martinelli Martinelli, Thamara Rayssa da Mota, Marina Cadena da Matta, Gabriela Borges Cherulli Colichio, Aline Lulho Roncalho, Ana Flavia Martinho Ferreira, Gabriela Pereira Campilongo, Eduardo Perrone, Luiza Amaral Virmond, Carolina Araujo Moreno, Joana Rosa Marques Prota, Marina de França, Murilo Castro Cervato, Tatiana Ferreira de Almeida, Joao Bosco de Oliveira

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, nonsyndromic hearing loss, hearing loss, deafness, whole genome sequencing, GJB2 (C×26) gene mutations, STRC gene

Relation: https://figshare.com/articles/dataset/DataSheet1_Genomic_study_of_nonsyndromic_hearing_loss_in_unaffected_individuals_Frequency_of_pathogenic_and_likely_pathogenic_variants_in_a_Brazilian_cohort_of_2_097_genomes_xlsx/20729059

الاتاحة: https://doi.org/10.3389/fgene.2022.921324.s001
https://figshare.com/articles/dataset/DataSheet1_Genomic_study_of_nonsyndromic_hearing_loss_in_unaffected_individuals_Frequency_of_pathogenic_and_likely_pathogenic_variants_in_a_Brazilian_cohort_of_2_097_genomes_xlsx/20729059

المؤلفون: Atsushi Fujita, Atsushi Takata, Satoko Miyatake, Kohei Hamanaka, Débora Romeo Bertola, Mayra de Barros Dorna, Patricia Picciarelli de Lima, Naomichi Matsumoto, Yuri Uchiyama, Chong Ae Kim, José Ricardo Magliocco Ceroni, Noriko Miyake, Satomi Mitsuhashi, Takeshi Mizuguchi, Antonio Carlos Pastorino, Rachel Sayuri Honjo

المصدر: Journal of Human Genetics. 64:955-960

مصطلحات موضوعية: Male, 0301 basic medicine, Developmental Disabilities, Primary Immunodeficiency Diseases, Arthritis, Disease, 030105 genetics & heredity, TNFAIP3, 03 medical and health sciences, RIPK1, Loss of Function Mutation, Immunopathology, Genetics, medicine, Humans, Child, Genetics (clinical), Immunodeficiency, business.industry, Homozygote, medicine.disease, Intestinal Diseases, 030104 developmental biology, Receptor-Interacting Protein Serine-Threonine Kinases, Immunology, Primary immunodeficiency, Signal transduction, business, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dab0eeacecf6b887bfa48197291e180
https://doi.org/10.1038/s10038-019-0631-3

المؤلفون: Carla Rosenberg, Débora Romeo Bertola, Maria Rita Passos-Bueno, Lucas Vieira Lacerda Pires, José Ricardo Magliocco Ceroni, Rachel Sayuri Honjo, Luiz Antônio Nunes Oliveira, Chong Ae Kim, Letícia Alves da Rocha, Edgard Novaes França Bisneto, Ana Cristina Victorino Krepischi, Guilherme L. Yamamoto

المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

مصطلحات موضوعية: DOENÇAS GENÉTICAS, Male, Microarray, Limb Deformities, Congenital, Consanguinity, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Genetics (clinical), Genetic Association Studies, business.industry, TAR syndrome, Infant, Newborn, Dysostosis, High-Throughput Nucleotide Sequencing, Infant, Aplasia, Sequence Analysis, DNA, Syndrome, medicine.disease, Phenotype, Hypoplasia, Pedigree, Limb bones, Child, Preschool, Etiology, Female, business, Brazil

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91a18a5681a50dfb3f84c0ccb4debb27
https://pubmed.ncbi.nlm.nih.gov/34341987

المؤلفون: Chong Ae Kim, Rachel Sayuri Honjo, Edgard Novaes França Bisneto, Luiz Antônio Nunes Oliveira, Guilherme L. Yamamoto, Letícia Alves da Rocha, Lucas Vieira Lacerda Pires, Ana Cristina Victorino Krepischi, Maria Rita Passos-Bueno, Carla Rosenberg, José Ricardo Magliocco Ceroni, Débora Romeo Bertola

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e41516b6fb7d1286535ff9f3cffac4a0
https://doi.org/10.1111/cge.14041/v2/response1

المؤلفون: Chong Ae Kim, Guilherme L. Yamamoto, Rachel Sayuri Honjo, José Ricardo Magliocco Ceroni, Débora Romeo Bertola, Alexander A. L. Jorge, Michele M Buscarilli, Alexsandra C. Malaquias, Maria Rita Passos-Bueno, Alexandre C. Pereira, Amanda B Freitas, Matheus Augusto Araujo Castro

المصدر: American journal of medical genetics. Part C, Seminars in medical geneticsREFERENCES. 184(4)

مصطلحات موضوعية: 0301 basic medicine, Genetics, Genotype, Noonan Syndrome, Hypertrophic cardiomyopathy, 030105 genetics & heredity, Biology, medicine.disease, Phenotype, PTPN11, Bleeding diathesis, 03 medical and health sciences, 030104 developmental biology, Mutation, medicine, SOS1, Noonan syndrome, Humans, Allele, Craniofacial, Genetics (clinical), Brazil

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a5f3498406cd6b957ded0dbbd09e037
https://pubmed.ncbi.nlm.nih.gov/33128510

المؤلفون: Rachel Sayuri Honjo, José Ricardo Magliocco Ceroni, Chong Ae Kim, Diana Salazar Bermeo, Gustavo Marquezani Spolador, Débora Romeo Bertola, Luiz Antonio Nunes de Oliveira

المصدر: Skeletal Radiology. 48:1201-1207

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Genetic counseling, Scoliosis, Short stature, 030218 nuclear medicine & medical imaging, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Mucolipidoses, medicine, Humans, Radiology, Nuclear Medicine and imaging, Child, Retrospective Studies, 030203 arthritis & rheumatology, Mucolipidosis, business.industry, Infant, Retrospective cohort study, medicine.disease, Hypoplasia, Radiography, Child, Preschool, Orthopedic surgery, Female, Differential diagnosis, medicine.symptom, business, Brazil

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf3834750bd4da956c4e00bcc3093c86
https://doi.org/10.1007/s00256-019-3159-x

المؤلفون: Michel S. Naslavsky, Marilia O. Scliar, Guilherme L. Yamamoto, Jaqueline Yu Ting Wang, Stepanka Zverinova, Tatiana Karp, Kelly Nunes, José Ricardo Magliocco Ceroni, Diego Lima de Carvalho, Carlos Eduardo da Silva Simões, Daniel Bozoklian, Ricardo Nonaka, Nayane dos Santos Brito Silva, Andreia da Silva Souza, Heloísa de Souza Andrade, Marília Rodrigues Silva Passos, Camila Ferreira Bannwart Castro, Celso T. Mendes-Junior, Rafael L. V. Mercuri, Thiago L. A. Miller, Jose Leonel Buzzo, Fernanda O. Rego, Nathalia M. Araújo, Wagner C. S. Magalhães, Regina Célia Mingroni-Netto, Victor Borda, Heinner Guio, Carlos P. Rojas, Cesar Sanchez, Omar Caceres, Michael Dean, Mauricio L. Barreto, Maria Fernanda Lima-Costa, Bernardo L. Horta, Eduardo Tarazona-Santos, Diogo Meyer, Pedro A. F. Galante, Victor Guryev, Erick C. Castelli, Yeda A. O. Duarte, Maria Rita Passos-Bueno, Mayana Zatz

المساهمون: Groningen Research Institute for Asthma and COPD (GRIAC)

المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Nature Communications, 13(1):1004. Nature Publishing Group

مصطلحات موضوعية: Multidisciplinary, MISCIGENAÇÃO, General Physics and Astronomy, General Chemistry, General Biochemistry, Genetics and Molecular Biology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::111de4c94a0c9feb2b42c6a2915cd4b7
https://research.rug.nl/en/publications/871aaadc-b030-4d71-8afb-5e0a96093b62

المؤلفون: Evelin Aline Zanardo, José Ricardo Magliocco Ceroni, J. G. Damasceno, F. A. R. Madia, Samar N. Chehimi, Gil Monteiro Novo Filho, Marília M. Montenegro, Leslie Domenici Kulikowski, Alexandre T. Dias, Yanca Gasparini, Thaís Virgínia Moura Machado Costa, Amom M. Nascimento, Chong Ae Kim

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: 0301 basic medicine, Adult, Cri-du-Chat Syndrome, Male, genomic array, Microcephaly, cri du chat, Cri du chat, Adolescent, DNA Copy Number Variations, lcsh:QH426-470, Cri du Chat Syndrome, 030105 genetics & heredity, Biology, cytogenomic, 03 medical and health sciences, Chromosome Breakpoints, Gene duplication, Genetics, medicine, Humans, Copy-number variation, Child, Molecular Biology, Genetics (clinical), Breakpoint, Chromosome, Original Articles, medicine.disease, Hypotonia, lcsh:Genetics, 030104 developmental biology, Phenotype, Child, Preschool, Brazilian patients, Chromosomes, Human, Pair 5, Original Article, Female, medicine.symptom

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6276d6407ad604c6e62f5b7d74077dd5
https://doaj.org/article/efd42a79e0bf410cb0c3de2027bd665a

المؤلفون: Giovanna Guimarães Soares, Denise Maria Christofolini, Bianca Del Bel Sonoda, Ana Carolina Nemeth Calvo, Gustavo Bertollini Lamy, Caio Parente Barbosa, Bianca Bianco, José Ricardo Magliocco Ceroni, Tamara Alba dos Santos

المصدر: Einstein
Einstein (São Paulo), Vol 17, Iss 3

مصطلحات موضوعية: Epidermólise bolhosa distrófica, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Epidermolysis bullosa dystrophica, Basement membrane, Heredity, Offspring, Genetic counseling, lcsh:Medicine, Case Report, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Recessive inheritance, otorhinolaryngologic diseases, Medicine, 030212 general & internal medicine, skin and connective tissue diseases, Collagen type VII, Membrana basal, integumentary system, business.industry, lcsh:R, General Medicine, medicine.disease, Dermatology, Dystrophic epidermolysis bullosa, Hereditariedade, medicine.anatomical_structure, Aconselhamento genético, 030220 oncology & carcinogenesis, Epidermolysis bullosa, business, Colágeno tipo VII

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e160686e38ea09ecb18564564997648
http://europepmc.org/articles/PMC6559778

المؤلفون: Atsushi Takata, Naomichi Matsumoto, Débora Romeo Bertola, Chong Ae Kim, Satomi Mitsuhashi, Noriko Miyake, Satoko Miyatake, Ken Saida, Takeshi Mizuguchi, José Ricardo Magliocco Ceroni, Rachel Sayuri Honjo

المصدر: Journal of human genetics. 64(9)

مصطلحات موضوعية: 0301 basic medicine, Heart Defects, Congenital, medicine.medical_specialty, Secondary hypertension, Arterial Occlusive Diseases, Cell Cycle Proteins, 030105 genetics & heredity, Bone and Bones, Renovascular hypertension, 03 medical and health sciences, Internal medicine, Genetics, Medicine, Humans, Amino Acid Sequence, Child, Stroke, Genetics (clinical), Sequence Deletion, medicine.diagnostic_test, business.industry, Brachydactyly, Homozygote, Grange syndrome, medicine.disease, Stenosis, 030104 developmental biology, Hemiparesis, Hypertension, Renovascular, Angiography, Hypertension, Cardiology, Female, Syndactyly, medicine.symptom, business, Intracranial Hemorrhages, Rare disease, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1726055fadee7e610259a356923f7da
https://pubmed.ncbi.nlm.nih.gov/31270375

المؤلفون: Flavia Balbo Piazzon, Juan C. Llerena, M. F. Galera, Gil M. Novo-Filho, Alexandre T. Dias, Angelina Xavier Acosta, Evelin Aline Zanardo, F. A. R. Madia, Roberta Lelis Dutra, Marília M. Montenegro, Leslie Domenici Kulikowski, J. B. de Melo, Rachel Sayuri Honjo, Paula Frassinetti Vasconcelos de Medeiros, Débora Romeo Bertola, Chong Ae Kim, José Ricardo Magliocco Ceroni

المصدر: Scientific Reports
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Scientific Reports, Vol 8, Iss 1, Pp 1-8 (2018)

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Adolescent, MICRORNAS, Science, Gene Dosage, 030105 genetics & heredity, Article, Congenital Abnormalities, 03 medical and health sciences, Intellectual Disability, Intellectual disability, Genotype, Multiplex polymerase chain reaction, Humans, Medicine, In patient, Multiplex, Copy-number variation, Multiplex ligation-dependent probe amplification, Child, Routine analysis, Multidisciplinary, business.industry, Infant, medicine.disease, Child, Preschool, Female, business, Multiplex Polymerase Chain Reaction, Brazil

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f9080ae6ec087513cff4e17b100421d
https://doi.org/10.1038/s41598-018-31754-2