Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
Bachmann-Gagescu, R, Dempsey, J C, Phelps, I G, O'Roak, B J, Knutzen, D M, Rue, T C, Ishak, G E, Isabella, C R, Gorden, N, Adkins, J, Boyle, E A, de Lacy, N, O'Day, D, Alswaid, A, Ramadevi A, Radha, Lingappa, L, Lourenço, C, Martorell, L, Garcia-Cazorla, À, Ozyürek, H, Haliloğlu, G, Tuysuz, B, Topçu, M, Chance, P, Parisi, M A, Glass, I A, Shendure, J, Doherty, D
Published in Journal of medical genetics (01.08.2015)
Published in Journal of medical genetics (01.08.2015)
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Journal Article
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)
Doherty, D, Parisi, M A, Finn, L S, Gunay-Aygun, M, Al-Mateen, M, Bates, D, Clericuzio, C, Demir, H, Dorschner, M, van Essen, A J, Gahl, W A, Gentile, M, Gorden, N T, Hikida, A, Knutzen, D, Özyurek, H, Phelps, I, Rosenthal, P, Verloes, A, Weigand, H, Chance, P F, Dobyns, W B, Glass, I A
Published in Journal of medical genetics (01.01.2010)
Published in Journal of medical genetics (01.01.2010)
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Journal Article
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome
Parisi, M A, Doherty, D, Eckert, M L, Shaw, D W W, Ozyurek, H, Aysun, S, Giray, O, Al Swaid, A, Al Shahwan, S, Dohayan, N, Bakhsh, E, Indridason, O S, Dobyns, W B, Bennett, C L, Chance, P F, Glass, I A
Published in Journal of medical genetics (01.04.2006)
Published in Journal of medical genetics (01.04.2006)
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Journal Article
Microbiological contamination of shell eggs produced in conventional and free-range housing systems
Parisi, M.A., Northcutt, J.K., Smith, D.P., Steinberg, E.L., Dawson, P.L.
Published in Food control (01.01.2015)
Published in Food control (01.01.2015)
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Journal Article
The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome
PARISI, MELISSA A, DINULOS, MARY BETH, LEPPIG, KATHLEEN A, SYBERT, VIRGINIA P, ENG, CHARIS, HUDGINS, LOUANNE
Published in Journal of medical genetics (01.01.2001)
Published in Journal of medical genetics (01.01.2001)
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Journal Article
DNA wrapping and bending by a mitochondrial high mobility group-like transcriptional activator protein
FISHER, R. P, LISOWSKY, T, PARISI, M. A, CLAYTON, D. A
Published in The Journal of biological chemistry (15.02.1992)
Published in The Journal of biological chemistry (15.02.1992)
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Journal Article
Molecular Physiognomies and Applications of Adipose-Derived Stem Cells
Uzbas, F., May, I. D., Parisi, A. M., Thompson, S. K., Kaya, A., Perkins, A. D., Memili, E.
Published in Stem cell reviews (01.04.2015)
Published in Stem cell reviews (01.04.2015)
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Journal Article
Rapid growth of myxoid leiomyosarcoma of the vulva during pregnancy: a case report
Di Gilio, A. R., Cormio, G., Resta, L., Carriero, C., Loizzi, V., Parisi, A. M., Selvaggi, L.
Published in International journal of gynecological cancer (01.01.2004)
Published in International journal of gynecological cancer (01.01.2004)
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Journal Article
Mechanics of Plain and Retrofitted Traditional Timber Connections
Parisi, Maria A, Piazza, Maurizio
Published in Journal of structural engineering (New York, N.Y.) (01.12.2000)
Published in Journal of structural engineering (New York, N.Y.) (01.12.2000)
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Journal Article
Indications and outcome for intensive care unit admission during puerperium
Loverro, G, Pansini, V, Greco, P, Vimercati, A, Parisi, A M, Selvaggi, L
Published in Archives of gynecology and obstetrics (01.11.2001)
Published in Archives of gynecology and obstetrics (01.11.2001)
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Journal Article
Fusion of sensors with dissimilar measurement/tracking accuracies
Haimovich, A.M., Yosko, J., Greenberg, R.J., Parisi, M.A., Becker, D.
Published in IEEE transactions on aerospace and electronic systems (01.01.1993)
Published in IEEE transactions on aerospace and electronic systems (01.01.1993)
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Journal Article
Seismic behavior and retrofitting of joints in traditional timber roof structures
Parisi, Maria A, Piazza, Maurizio
Published in Soil dynamics and earthquake engineering (1984) (2002)
Published in Soil dynamics and earthquake engineering (1984) (2002)
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