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1
المؤلفون: Joel N. Buxbaum, Angela Dispenzieri, David S. Eisenberg, Marcus Fändrich, Giampaolo Merlini, Maria J. M. Saraiva, Yoshiki Sekijima, Per Westermark
المصدر: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis. 29(4)
مصطلحات موضوعية: Amyloid, Internal Medicine, Humans, Membrane Proteins, Amyloidogenic Proteins, Amyloidosis
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2
المؤلفون: A Dinis, E Faria, C Resende, N da Fonseca, J M Saraiva, C Gomes, J Gil, A J Correia
المصدر: Journal of Medical Genetics. 36:786-789
مصطلحات موضوعية: Male, Spondyloepiphyseal dysplasia, Cellular immunity, Pathology, medicine.medical_specialty, Short Report, Criança, Disease, Osteochondrodysplasias, Bone and Bones, Pelvis, Osteocondrodisplasias, Lymphopenia, Genetics, medicine, Humans, Genetics (clinical), business.industry, Schimke immuno-osseous dysplasia, Syndrome, medicine.disease, Osteochondrodysplasia, Spine, Radiography, Phenotype, Dysplasia, Child, Preschool, Immunology, Etiology, Kidney Diseases, business, Kidney disease
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3
المؤلفون: J. W. T. Seakins, J. M. Saraiva, I. Smith
المصدر: Journal of Inherited Metabolic Disease. 16:105-109
مصطلحات موضوعية: Male, Heterozygote, medicine.medical_specialty, Phenylalanine, Population, Loss of heterozygosity, Hyperphenylalaninemia, Risk Factors, Internal medicine, Molecular genetics, Genetics, medicine, Humans, Tyrosine, Risk factor, education, Amino Acid Metabolism, Inborn Errors, Genetics (clinical), education.field_of_study, business.industry, Bayes Theorem, Heterozygote advantage, medicine.disease, Endocrinology, Female, business
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4
المؤلفون: J M, Saraiva, M R, Pinto, C, Monteiro, M R, Lima, A, Medeira, P, Rendeiro
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 3(3)
مصطلحات موضوعية: Portugal, Genetic Diseases, Inborn, Genetics, Humans
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5
المؤلفون: A, Belinda, C F, Xavier, J M, Saraiva, M, Le Merrer, N, Dagoneau, C, Huber, C, Penet, A, Munnich, V, Cormier-Daire
المصدر: Clinical genetics. 58(2)
مصطلحات موضوعية: Male, Biology, Polymerase Chain Reaction, law.invention, Genetic Heterogeneity, law, Genetics, medicine, Humans, Genetics (clinical), Polymerase chain reaction, Recombination, Genetic, Polymorphism, Genetic, Portugal, Genetic heterogeneity, Haplotype, Chromosome Mapping, Camurati–Engelmann disease, Camurati-Engelmann Syndrome, medicine.disease, Pedigree, Haplotypes, Female, Chromosomes, Human, Pair 19, Microsatellite Repeats
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6
المؤلفون: J M, Saraiva
المصدر: American journal of medical genetics. 91(3)
مصطلحات موضوعية: Radiography, Child, Preschool, Humans, Dwarfism, Female, Agenesis of Corpus Callosum, Hyperostosis, Magnetic Resonance Imaging, Bone and Bones, Corpus Callosum
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7
المؤلفون: J M, Saraiva, I, Cordeiro, H G, Santos
المصدر: Clinical dysmorphology. 8(2)
مصطلحات موضوعية: Diseases in Twins, Facies, Humans, Abnormalities, Multiple, Syndrome, Twins, Monozygotic, Body Height
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::059f05aa187f9be2f66ce8265939020c
https://pubmed.ncbi.nlm.nih.gov/10319206 -
8
المؤلفون: I. Marques, J. M. Saraiva, E. Matoso
المصدر: Scopus-Elsevier
CIÊNCIAVITAEمصطلحات موضوعية: Cerebellum, Text mining, medicine.anatomical_structure, business.industry, Craniofacial abnormality, Genetics, medicine, business, medicine.disease, Bioinformatics, Genetics (clinical), Research Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3336d08b7ac0aa407ef4abc343f91bf8
https://europepmc.org/articles/PMC1051298/ -
9
المؤلفون: H G, Santos, J M, Saraiva
المصدر: Clinical dysmorphology. 4(3)
مصطلحات موضوعية: Male, Radiography, Consanguinity, Infant, Newborn, Humans, Osteochondrodysplasias, Bone and Bones
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::31d7cc62616b7a06f2380b5fa13c6e6d
https://pubmed.ncbi.nlm.nih.gov/7551158 -
10
المؤلفون: J M, Saraiva, E, Gama, M M, Pires, J F, Sequeira
المصدر: Clinical dysmorphology. 4(2)
مصطلحات موضوعية: Heart Defects, Congenital, Skull, Infant, Newborn, Brain, Humans, Abnormalities, Multiple, Female, Glaucoma, Syndrome
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::9a011a8191c1b58377ab7bcaebe6cd14
https://pubmed.ncbi.nlm.nih.gov/7606323