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pro vyhledávání: '"Chiong MA"'
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Autor:
Lakkhana, Panisara1 (AUTHOR), Tim-Aroon, Thipwimol2 (AUTHOR) thipwimol.tim@mahidol.ac.th, Khongkraparn, Arthaporn2 (AUTHOR), Noojarern, Saisuda2 (AUTHOR), Wongkittichote, Parith3 (AUTHOR), Wichajarn, Khunton4 (AUTHOR), Kuptanon, Chulaluck5 (AUTHOR), Boonyawat, Boonchai6 (AUTHOR), Suphapeetiporn, Kanya7 (AUTHOR), Wejaphikul, Karn8 (AUTHOR), Seo, GoHun9 (AUTHOR), Wattanasirichaigoon, Duangrurdee2 (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 10/25/2024, Vol. 19 Issue 1, p1-9. 9p.
Autor:
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.
Publikováno v:
Orphanet Journal of Rare Diseases; Vol 9
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background Oral-facial-digital type 1 syndrome (OFD1; OMIM 311200) belongs to the expanding group of disorders ascribed to ciliary dysfunction. With the aim of contributing to the understanding of the role of primary cilia in the central nervous syst
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5ce4117a09b52e55c5f27f15a27823e
Autor:
Chiong MA; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, 625 Pedro Gil St., Ermita, Manila, 1000, Philippines. mdchiong1@up.edu.ph.; Department of Pediatrics, University of the Philippines-Philippine General Hospital, Manila, Philippines. mdchiong1@up.edu.ph.; Department of Pediatrics, College of Medicine, University of Santo Tomas, Manila, Philippines. mdchiong1@up.edu.ph., Canson DM; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, 625 Pedro Gil St., Ermita, Manila, 1000, Philippines., Abacan MA; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, 625 Pedro Gil St., Ermita, Manila, 1000, Philippines.; Department of Pediatrics, University of the Philippines-Philippine General Hospital, Manila, Philippines., Baluyot MM; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, 625 Pedro Gil St., Ermita, Manila, 1000, Philippines.; Department of Pediatrics, University of the Philippines-Philippine General Hospital, Manila, Philippines., Cordero CP; Department of Clinical Epidemiology, College of Medicine, University of the Philippines, Manila, Philippines., Silao CL; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, 625 Pedro Gil St., Ermita, Manila, 1000, Philippines.; Department of Pediatrics, University of the Philippines-Philippine General Hospital, Manila, Philippines.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2017 Jan 11; Vol. 12 (1), pp. 7. Date of Electronic Publication: 2017 Jan 11.
Autor:
De Castro-Hamoy LG; Department of Pediatrics, Section of Clinical Genetics, University of the Philippines-Philippine General Hospital, Manila, Philippines. ldhamoy@post.upm.edu.ph.; Institute of Human Genetics-National Institutes of Health, University of the Philippines Manila, Manila Pedro Gil Street, Malate, 1000, P.O. Box 297, Manila, Philippines. ldhamoy@post.upm.edu.ph., Chiong MA; Department of Pediatrics, Section of Clinical Genetics, University of the Philippines-Philippine General Hospital, Manila, Philippines.; Institute of Human Genetics-National Institutes of Health, University of the Philippines Manila, Manila Pedro Gil Street, Malate, 1000, P.O. Box 297, Manila, Philippines., Estrada SC; Department of Pediatrics, Section of Clinical Genetics, University of the Philippines-Philippine General Hospital, Manila, Philippines.; Institute of Human Genetics-National Institutes of Health, University of the Philippines Manila, Manila Pedro Gil Street, Malate, 1000, P.O. Box 297, Manila, Philippines., Cordero CP; Institute of Human Genetics-National Institutes of Health, University of the Philippines Manila, Manila Pedro Gil Street, Malate, 1000, P.O. Box 297, Manila, Philippines.
Publikováno v:
Journal of community genetics [J Community Genet] 2017 Jan; Vol. 8 (1), pp. 9-15. Date of Electronic Publication: 2016 Oct 06.
Autor:
Siri, Barbara1,2 (AUTHOR) barbara.siri@unito.it, Olivieri, Giorgia1 (AUTHOR), Lepri, Francesca Romana3 (AUTHOR), Poms, Martin4 (AUTHOR), Goffredo, Bianca Maria5 (AUTHOR), Commone, Anna1 (AUTHOR), Novelli, Antonio3 (AUTHOR), Häberle, Johannes6 (AUTHOR), Dionisi-Vici, Carlo1 (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 1/2/2024, Vol. 19 Issue 1, p1-8. 8p.
Autor:
Chiong MA; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Philippines., Tan MA; Department of Pediatrics, Section of Neurology, Philippine General Hospital, University of the Philippines Manila, Philippines., Cordero CP; Department of Clinical Epidemiology, University of the Philippines Manila, Philippines., Fodra EG; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Philippines., Manliguis JS; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Philippines., Lopez CP; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Philippines., Dalmacio LM; Department of Biochemistry, University of the Philippines Manila, Philippines.
Publikováno v:
Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2016 Oct 12; Vol. 9, pp. 46-53. Date of Electronic Publication: 2016 Oct 12 (Print Publication: 2016).
Autor:
Murgia, Chiara1 (AUTHOR) chiara.murgia@unimelb.edu.au, Dehlia, Ankush2 (AUTHOR), Guthridge, Mark A.2 (AUTHOR)
Publikováno v:
Nutrition & Metabolism. 10/16/2023, Vol. 20 Issue 1, p1-20. 20p.
Autor:
Schrier SA; Division of Human Genetics, The Children's Hospital of Philadelphia, and Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA., Bodurtha JN, Burton B, Chudley AE, Chiong MA, D'avanzo MG, Lynch SA, Musio A, Nyazov DM, Sanchez-Lara PA, Shalev SA, Deardorff MA
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2012 Aug; Vol. 158A (8), pp. 1865-76. Date of Electronic Publication: 2012 Jun 18.
Autor:
Chiu YH; Institute of Genetics, National Yang-Ming University, Taipei, Taiwan., Chang YC, Chang YH, Niu DM, Yang YL, Ye J, Jiang J, Okano Y, Lee DH, Pangkanon S, Kuptanon C, Hock NL, Chiong MA, Cavan BV, Hsiao KJ, Liu TT
Publikováno v:
Journal of human genetics [J Hum Genet] 2012 Feb; Vol. 57 (2), pp. 145-52. Date of Electronic Publication: 2012 Jan 12.