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المؤلفون: Gerola, O., Rosa Maria Cerbo, Franco, B., Rondini, G.
المساهمون: Gerola, O, Cerbo, R. M., Franco, Brunella, Rondini, G.
المصدر: Scopus-Elsevier
URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::4872e9d6ebe0cf4c6b186e7715d2f840
http://hdl.handle.net/11588/143932 -
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المؤلفون: Del Giudice, E, Macca, M, Imperati, F, D'Amico, A, Parent, P, Pasquier, L, Layet, V, Lyonnet, S, Stamboul Darmency, V, Thauvin Robinet, C, Franco, B, OFD1 Collaborative Group including Bankier A, Oral Facial Digital Type I., White, S, Collins, F, Gardner, M, Keeling, Sl, Tan, T, Mcgaughran, J, Mckenzie, F, Lhotta, K, Abdulla, F, Destree, A, Devriendt, K, Matthijs, G, Ferrier, R, Mcleod, Dr, Friedman, Jm, Heran, H, Graham, Ge, Klatt, R, Teebi, A, Jensen, P, Gilbert, B, Marlin, S, Trousseau, A, Toutain, A, David, A, Odent, S, Héron, D, Burglen, L, Rio, M, Jouk, Ps, Plessis, G, Lespinasse, J, Giuliano, F, Turc Carel, C, Betz, Rc, Heim, S, Klehr Martinelli, M, Kotzot, D, Minnerop, M, Schell Apacik, C, Gal, A, Orth, U, Gillessen Kaesbach, G, Zoll, B, Mucke, J, Tzschach, A, Godde, E, Carmi, R, Brunetti, N, Scarcella, A, Castelluccio, P, Castellan, C, Gerola, O, Bigoni, S, Zelante, L, Foggia, S, Sabato, A, Bianchini, G, Nuova, As, Virdis, R, Ferrero, Giovanni Battista, Selicorni, A, Gurrieri, F, Cuore, S, Megarbane, A, Chiong, Ma, Cutiongco, Em, Obersztyn, E, Kutkowska Kazmierczak, A, Mota, Cr, de Magalhaes, D, Stevanovic, G, Del Pozo JS, Barcina, Mg, Iwarsson, E, Graber, V, Okhowat, R, Shinzel, A, Brunner, Hg, Krapels, I, Hovers, V, Beemer, Fa, Terhal, P, Rump, P, Elcioglu, N, Toprak, O, Burn, J, Henderson, A, Jones, E, Dean, J, Castle, B, Macdonald, F, Farndon, P, Williams, D, Homfray, T, Lees, M, Loughlin, S, Raymond, Fl, Trump, D, Whittaker, J, Smithson, S, Rankin, J, Turner, C, Bird, L, Chibuk, J, Masser Frye, D, Sell, S, Amy, S, Schafer, I, Bartoshesky, Le, Jenny, K, Benke, P, Curry, C, Swenerton, A, Treisman, T, Dunlap, Jw, Shashi, V, Reich, E, Reimschisel, T, Pfau, R, Pober, B, Robertson, J, Roggenbuck, J, Thiese, H.
المساهمون: DEL GIUDICE, Ennio, M., Macca, F., Imperati, A., D’Amico, P., Parent, L., Pasquier, V., Layet, S., Lyonnet, V., Stamboul Darmency, C., Thauvin Robinet, Franco, Brunella, Oral Facial Digital Type, I. Collaborative G. r. o. u. p.
المصدر: Orphanet Journal of Rare Diseases; Vol 9
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Central nervous system, Neuroimaging, Neuropsychological Tests, Pharmacology, Bioinformatics, Settore MED/03 - GENETICA MEDICA, Ciliopathies, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Central Nervous System Diseases, medicine, Humans, Genetics(clinical), Pharmacology (medical), Orofaciodigital type 1, Neurodevelopmental phenotype, OFD1, Female, Magnetic Resonance Imaging, Mutation, Orofaciodigital Syndromes, Medicine (all), Genetics (clinical), Agenesis of the corpus callosum, 030304 developmental biology, Medicine(all), 0303 health sciences, business.industry, Research, Cilium, Neuropsychology, Cognition, General Medicine, medicine.disease, central nervous system, Porencephaly, 3. Good health, medicine.anatomical_structure, business, 030217 neurology & neurosurgery
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المؤلفون: Scelsa, B, Fazzi, E, Farinotti, L, Gerola, O, Bollani, L, Balottin, Umberto, Rondini, G.
مصطلحات موضوعية: Behavior, Facial expression, Pain measurement, Pain, Pediatrics, Perinatology and Child Health, Perinatology and Child Health, Pediatrics
URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8df81ac749f721f2f4f11259ce3c244b
http://hdl.handle.net/11379/512164 -
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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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المؤلفون: Gerola, O., Montagna, M., Vignali, C., Cerri, C., Angela Pistorio, Di Mario, M., Spinillo, A., Rondini, G.
المصدر: Scopus-Elsevier
URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1d868460f90f2046e790d6de0f2c5aa7
http://www.scopus.com/inward/record.url?eid=2-s2.0-0033380926&partnerID=MN8TOARS -
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المؤلفون: Bollani, L., Claudia Dolci, Gerola, O., Montaruli, A., Rondini, G., Carandente, F.
المصدر: Scopus-Elsevier
URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::38f7212a0cc3cdfbb79e355ac8b823f8
http://www.scopus.com/inward/record.url?eid=2-s2.0-0028319054&partnerID=MN8TOARS -
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