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1دورية أكاديمية
المؤلفون: Alexandre Mello Savoldi, Maria Auxiliadora Monteiro Villar, Heloisa Novaes Machado, Juan C. Llerena Júnior
المصدر: Revista Brasileira de Ginecologia e Obstetrícia, Vol 39, Iss 10, Pp 576-582 (2017)
مصطلحات موضوعية: pregnancy, skeletal dysplasia, osteogenesis imperfecta, prenatal period, genetic syndromes, Gynecology and obstetrics, RG1-991
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Anneliese L. Barth, Tatiana S.P.C. de Magalhães, Ana Beatriz R. Reis, Maria Lucia de Oliveira, Fernanda B. Scalco, Nicolette C. Cavalcanti, Daniel S. e Silva, Danielle A. Torres, Alessandra A.P. Costa, Carmem Bonfim, Roberto Giugliani, Juan C. Llerena, Jr, Dafne D.G. Horovitz
المصدر: Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 62-68 (2017)
مصطلحات موضوعية: Mucopolysaccharidosis, Hematopoietic stem cell transplantation, Neurocognition, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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المؤلفون: Sayonara Gonzalez, Maria Celia C Zuma, Fernanda Rolemberg G Riba, Maria E.S. Gomes, Juan C. Llerena, Natana Chaves Rabelo, Andre Luiz Mencalha
المصدر: Genetic Testing and Molecular Biomarkers. 25:674-682
مصطلحات موضوعية: Thanatophoric dysplasia, Chemistry, Hypochondroplasia, General Medicine, Fibroblast growth factor receptor 3, medicine.disease, Molecular biology, Rapid detection, High Resolution Melt, medicine, In patient, Achondroplasia, Gene, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a9a23a5283524253e68710c0f1b5c697
https://doi.org/10.1089/gtmb.2020.0330 -
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المصدر: Molecular Genetics and Metabolism. 138:107153
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
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المؤلفون: Ana Maria Bolognese, Milagros M. Duenas-Roque, Viviane Freitas de Castro, Maria Teresa Vieira Sanseverino, Viviana Cosentino, Rachel Sayuri Honjo, Larissa Souza Mario Bueno, Juan C. Llerena, Luiz Carlos Santana da Silva, Júlio César Loguercio Leite, Daniel Mattos, Márcia Pereira Alves de Souza, Denise P. Cavalcanti, Pablo Barbero, Pricila Bernardi, Flávia Martinez de Carvalho, Patrícia Santana Correia, Clarice Pagani Savastano, Iêda M. Orioli
المصدر: Molecular Syndromology. 12:219-233
مصطلحات موضوعية: Sanger sequencing, Genetics, Genetic counseling, Biology, medicine.disease, ZIC2, Phenotype, Penetrance, symbols.namesake, Holoprosencephaly, RNA splicing, medicine, symbols, Gene, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2ba2f0476a84a943b99e0e9ec2a83f4e
https://doi.org/10.1159/000515044 -
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المؤلفون: Nathan Thibault, Sonia S. Maruti, Karien Verhulst, Roberto Araujo, Matthias Boentert, David W. Stockton, Juan C. Llerena, Ans T. van der Ploeg, Priya S. Kishnani, Barry J. Byrne, Mark Roberts, Kenneth I. Berger
المساهمون: Pediatrics
المصدر: Journal of Neurology, 267(10), 3038-3053. D. Steinkopff-Verlag
Journal of Neurologyمصطلحات موضوعية: Male, 0301 basic medicine, Registry, medicine.medical_specialty, Vital capacity, Adolescent, Cardiomyopathy, Late onset, Young Adult, 03 medical and health sciences, FEV1/FVC ratio, 0302 clinical medicine, Internal medicine, medicine, Respiratory muscle, Humans, Respiratory function, Child, Alglucosidase alfa, Original Communication, Glycogen Storage Disease Type II, business.industry, Respiration, Pompe disease, alpha-Glucosidases, Enzyme replacement therapy, Prognosis, medicine.disease, Treatment Outcome, 030104 developmental biology, Neurology, Female, Neurology (clinical), business, Late-onset Pompe disease, 030217 neurology & neurosurgery, medicine.drug
وصف الملف: application/pdf
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المؤلفون: Fernanda Rolemberg G, Riba, Maria E S, Gomes, Natana Chaves, Rabelo, Maria Celia C, Zuma, Juan C, Llerena, André Luiz, Mencalha, Sayonara, Gonzalez
المصدر: Genetic testing and molecular biomarkers. 25(10)
مصطلحات موضوعية: Male, Adolescent, DNA Mutational Analysis, Infant, Newborn, Limb Deformities, Congenital, Infant, Dwarfism, Bone and Bones, Achondroplasia, Child, Preschool, Mutation, Lordosis, Humans, Receptor, Fibroblast Growth Factor, Type 3, Female, Child
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::8b4219db8c7ab1be30503fc1bac3d6d9
https://pubmed.ncbi.nlm.nih.gov/34672771 -
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المؤلفون: Ida Vanessa Doederlein Schwartz, Juan C. Llerena, Candice Beatriz Treter Gonçalves, Tiago Veiga Pereira, Bárbara Côrrea Krug, Alícia Dorneles Dornelles, Priya S. Kishnani, Haliton Alves de Oliveira, Ana Paula Pedroso Junges
المصدر: Journal of Clinical Medicine
Journal of Clinical Medicine, Vol 10, Iss 4828, p 4828 (2021)مصطلحات موضوعية: Vital capacity, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Population, Review, FEV1/FVC ratio, Quality of life, Internal medicine, Glycogen storage disease type II, medicine, alpha-glucosidase, education, education.field_of_study, business.industry, nutritional and metabolic diseases, Pompe disease, General Medicine, Enzyme replacement therapy, medicine.disease, Confidence interval, glycogen storage disease type II, Meta-analysis, Medicine, business, enzyme replacement therapy
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المؤلفون: Liane de Rosso Giuliani, Paula de Almeida Thomazinho, Carolina Fishinger Moura de Souza, Dafne Dain Gandelman Horovitz, Ana Maria Martins, Juan C. Llerena, Regina Célia Beltrão Duarte, Maria Da Glória Cruvinel Horta, Eliana Pelissari, Lilian Stewart, Heloíse Helena Siqueira Borges
المصدر: Open Journal of Clinical Diagnostics. :16-32
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, business.industry, Mortality rate, nutritional and metabolic diseases, Disease, Enzyme replacement therapy, medicine.disease, Clinical research, Disease registry, Inborn error of metabolism, Glycogen storage disease type II, medicine, business, Survival rate
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::35937c14aade857025d39afdf2c1c196
https://doi.org/10.4236/ojcd.2019.91002 -
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المؤلفون: Dafne Horovitz, Juan C. Llerena, Maria E.S. Gomes, Maria Teresa Vieira Sanseverino, Gabriela Ferraz Leal, Ernesto Raul Caffarena, Deborah Antunes, Têmis Maria Félix, Denise P. Cavalcanti, Valeria R. Moura, Sayonara Gonzalez, Luiza Calatrava Paternostro
المصدر: Molecular Syndromology. 10:255-263
مصطلحات موضوعية: Genetics, In silico, Biology, medicine.disease, Hypoplasia, Dysplasia, medicine, Cartilage–hair hypoplasia, Hypotrichosis, Gene, Genetics (clinical), Immunodeficiency, Founder effect
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d37e3556a4ad42fb025e6a3db84b070d
https://doi.org/10.1159/000501892
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