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المؤلفون: Piard, Juliette, Lespinasse, James, Vlckova, Marketa, Mensah, Martin A., Iurian, Sorin, Simandlova, Martina, Malikova, Marcela, Bartsch, Oliver, Rossi, Massimiliano, Lenoir, Marion, Nugues, Frederique, Mundlos, Stefan, Kornak, Uwe, Stanier, Philip, Sousa, Sergio B., Van Maldergem, Lionel
المصدر: American Journal of Medical Genetics Part A
مصطلحات موضوعية: PTDSS1, hyperostotic skeletal dysplasia, cutis laxa, 600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit::616 Krankheiten, Lenz–Majewski syndrome
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c19485a07042035a3a13f0b28ab6996c
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المؤلفون: Juliette, Piard, James, Lespinasse, Marketa, Vlckova, Martin A, Mensah, Sorin, Iurian, Martina, Simandlova, Marcela, Malikova, Oliver, Bartsch, Massimiliano, Rossi, Marion, Lenoir, Frédérique, Nugues, Stefan, Mundlos, Uwe, Kornak, Philip, Stanier, Sérgio B, Sousa, Lionel, Van Maldergem
المصدر: American Journal of Medical Genetics. Part a
مصطلحات موضوعية: Adult, Male, PTDSS1, Clinical Report, hyperostotic skeletal dysplasia, Genotype, Nitrogenous Group Transferases, Facies, cutis laxa, Exons, Hyperostosis, Clinical Reports, Lenz–Majewski syndrome, Radiography, Phenotype, Child, Preschool, Mutation, Humans, Female, Child, Alleles, Genetic Association Studies
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3دورية أكاديمية
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