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1دورية أكاديمية
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2دورية أكاديمية
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المؤلفون: Prattichizzo, C, Macca, M, Novelli, V, Giorgio, G, Barra, A, Franco, B, OFDI COLLABORATIVE GROUP ABDULLA F, ORAL FACIAL DIGITAL TYPE I., Abramowicz, M, Amy, S, Schafer, I, Bankier, A, White, S, Barcina, Mg, Bartoshesky, Le, Jenny, K, Beemer, Fa, Benke, P, Betz, Rc, Bianchini, G, Garavelli, L, Bigoni, S, Bird, L, Chibuk, J, MASSER FRYE, D, Brunetti, N, Scarcella, A, Brunner, Hg, Burn, J, Carmi, R, Castellan, C, Castelluccio, P, Castle, B, Chiong, Ma, Cutiongco, Em, Collins, F, Couchon, E, Curry, A, Pastore, M, Curry, C, Swenerton, A, Treisman, T, Dean, J, Devriendt, K, Matthijs, G, Dunlap, Jw, Shashi, V, Elcioglu, N, Farndon, P, Ferrero, Gb, Ferrier, R, Foulds, N, Friedman, Jm, Gal, A, Orth, U, Gardner, M, Gerola, O, GILLESSEN KAESBACH, G, Giuliano, F, TURC CAREL, C, Gödde, E, Graber, V, Graham, Ge, Gurrieri, F, Harbour, L, Henderson, A, Jones, E, Heran, H, Homfray, T, Taylor, R, Iwarsson, E, Jensen, P, JEZELA STANEK, A, Joss, S, Taylor, G, Keeling, Sl, Klatt, R, Teebi, A, KLEHR MARTINELLI, M, Kotzot, D, Lees, M, Loughlin, S, Lhotta, K, Macdonald, F, Mari, Francesca, Renieri, Alessandra, Marlin, S, Mcgaughran, J, Mckenzie, F, Mcleod, Dr, Megarbane, A, Mota, Cr, Mucke, J, Tzschach, A, Obersztyn, E, Okhowat, R, Shinzel, A, Pfau, R, Pober, B, Raymond, Fl, Reich, E, Reimschisel, T, Robertson, J, Roggenbuck, J, Sabato, A, SANCHEZ DEL POZO, J, SCHELL APACIK, C, Schwaab, E, Selicorni, A, Sell, S, Smithson, S, STRAY PEDERSEN, A, Tan, T, Thiese, H, Tol, J, Toprak, O, Trump, D, Whittaker, J, Williams, D, Zelante, L, Zoll, B.
المصدر: Human Mutation, 29, 10, pp. 1237-46
Human Mutation, 29, 1237-46مصطلحات موضوعية: Male, Adolescent, Genotype, Genetics and epigenetic pathways of disease [NCMLS 6], primary ciliary dysfunction, DNA Mutational Analysis, Molecular Sequence Data, Nonsense mutation, Biology, X-linked dominant male lethal, medicine.disease_cause, Bioinformatics, Frameshift mutation, Cohort Studies, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, Cystic kidney disease, OFDI, Genetics, medicine, Humans, Missense mutation, Amino Acid Sequence, Child, mutation analysis, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Mutation, Cilium, 030305 genetics & heredity, Genetic disorder, Proteins, OFD1, Orofaciodigital Syndromes, medicine.disease, 3. Good health, Developmental disorder, Phenotype, Genetic defects of metabolism [UMCN 5.1], Mutation analysis OFD1 OFDI Primary ciliary dysfunction X-linked dominant male lethal, Female, Sequence Alignment, Immunity, infection and tissue repair [NCMLS 1]
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::887ba5286d33e0747592d976182a6e79
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4مورد إلكتروني
المصدر: Human mutation, 29 (10
مصطلحات الفهرس: Sciences bio-médicales et agricoles, Adolescent, Amino Acid Sequence, Child, Cohort Studies, DNA Mutational Analysis, Female, Genotype, Humans, Male, Molecular Sequence Data, Mutation, Orofaciodigital Syndromes -- genetics, Orofaciodigital Syndromes -- pathology, Phenotype, Proteins -- genetics, Sequence Alignment, Mutation analysis, OFD1, OFDI, Primary ciliary dysfunction, X-linked dominant male lethal, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article
URL:
https://dipot.ulb.ac.be/dspace/bitstream/2013/53610/3/53610.pdf http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/53610 http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL -
5مورد إلكتروني
المصدر: Human mutation, 29 (10
مصطلحات الفهرس: Sciences bio-médicales et agricoles, Adolescent, Amino Acid Sequence, Child, Cohort Studies, DNA Mutational Analysis, Female, Genotype, Humans, Male, Molecular Sequence Data, Mutation, Orofaciodigital Syndromes -- genetics, Orofaciodigital Syndromes -- pathology, Phenotype, Proteins -- genetics, Sequence Alignment, Mutation analysis, OFD1, OFDI, Primary ciliary dysfunction, X-linked dominant male lethal, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article
URL:
https://dipot.ulb.ac.be/dspace/bitstream/2013/53610/3/53610.pdf http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/53610 http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL
