المؤلفون: Prattichizzo, C, Macca, M, Novelli, V, Giorgio, G, Barra, A, Franco, B

المصدر: Human mutation. 29(10):1237-1246

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:117771340

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

المصدر: Orphanet journal of rare diseases. 9:74

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:128945243

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Romano A, Macca M, DEL GIUDICE, ENNIO

المساهمون: Romano, A, Macca, M, DEL GIUDICE, Ennio

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3730::f17f8525d395168fd9300a05a334008c
http://hdl.handle.net/11588/351998

المؤلفون: Macca M, Prattichizzo C, FRANCO, BRUNELLA, DEL GIUDICE, ENNIO

المساهمون: Macca, M, DEL GIUDICE, Ennio, Prattichizzo, C, Franco, Brunella

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3730::6a659c381ddb102e19ead2f83aa57b68
http://hdl.handle.net/11588/494399

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: CHOKSI, MACCA M., FIELD, JOHN O., LE MESSURIER, DONALD B., DONOVAN, DALE, AJOUX, PIERRE, ROSWELL, JOHNSON, LOIS, PINZLER, ROBERT, MILIUS, WARREN F., SHANLY, WILLIAM C., WTELLMAN, MARK, BARLOW, GRIFFITH C., GARNER Jr., E. W., WISEMAN Jr., JOHN R., OTT, GEORGE, CUMMINGS, LUCY, KNOWLTON, LINDSAY, WOOD, JEREMY SCOTT, SCHULTZ, LORRAINE, BAGBY, DOROTHY WTATERS

المصدر: TIME Magazine; 12/7/1962, Vol. 80 Issue 23, p6-8, 3p

مصطلحات موضوعية: INTERNATIONAL relations, UNITED States citizenship, MANNEQUINS (Figures)

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

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, 1237-46

مصطلحات 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

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.