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Mostrati risultati da 18 a 37 di 149
Data di pubblicazione Titolo Autore(i) File
1-gen-2021 Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss Richard, E. M.; Bakhtiari, S.; Marsh, A. P. L.; Kaiyrzhanov, R.; Wagner, M.; Shetty, S.; Pagnozzi, A.; Nordlie, S. M.; Guida, B. S.; Cornejo, P.; Magee, H.; Liu, J.; Norton, B. Y.; Webster, R. I.; Worgan, L.; Hakonarson, H.; Li, J.; Guo, Y.; Jain, M.; Blesson, A.; Rodan, L. H.; Abbott, M. -A.; Comi, A.; Cohen, J. S.; Alhaddad, B.; Meitinger, T.; Lenz, D.; Ziegler, A.; Kotzaeridou, U.; Brunet, T.; Chassevent, A.; Smith-Hicks, C.; Ekstein, J.; Weiden, T.; Hahn, A.; Zharkinbekova, N.; Turnpenny, P.; Tucci, A.; Yelton, M.; Horvath, R.; Gungor, S.; Hiz, S.; Oktay, Y.; Lochmuller, H.; Zollino, M.; Morleo, M.; Marangi, G.; Nigro, V.; Torella, A.; Pinelli, M.; Amenta, S.; Husain, R. A.; Grossmann, B.; Rapp, M.; Steen, C.; Marquardt, I.; Grimmel, M.; Grasshoff, U.; Korenke, G. C.; Owczarek-Lipska, M.; Neidhardt, J.; Radio, F. C.; Mancini, C.; Claps Sepulveda, D. J.; McWalter, K.; Begtrup, A.; Crunk, A.; Guillen Sacoto, M. J.; Person, R.; Schnur, R. E.; Mancardi, M. M.; Kreuder, F.; Striano, P.; Zara, F.; Chung, W. K.; Marks, W. A.; van Eyk, C. L.; Webber, D. L.; Corbett, M. A.; Harper, K.; Berry, J. G.; MacLennan, A. H.; Gecz, J.; Tartaglia, M.; Salpietro, V.; Christodoulou, J.; Kaslin, J.; Padilla-Lopez, S.; Bilguvar, K.; Munchau, A.; Ahmed, Z. M.; Hufnagel, R. B.; Fahey, M. C.; Maroofian, R.; Houlden, H.; Sticht, H.; Mane, S. M.; Rad, A.; Vona, B.; Jin, S. C.; Haack, T. B.; Makowski, C.; Hirsch, Y.; Riazuddin, S.; Kruer, M. C.
1-gen-2004 Binary and microsatellite polymorphisms of the Y-chromosome in the Mbenzele pygmies from the Central African Republic Coia, Valentina; Caglià, A; Arredi, Barbara; Donati, F; Santos, Fr; Pandya, A; Taglioli, L; Paoli, G; Pascali, Vincenzo Lorenzo; Destro Bisol, G; Tyler Smith, C.
1-gen-2020 Bioinformatic analysis indicates that SARS-CoV-2 is unrelated to known artificial coronaviruses Dallavilla, T.; Bertelli, M.; Morresi, A.; Bushati, V.; Stuppia, L.; Beccari, T.; Chiurazzi, P.; Marceddu, G.
1-gen-2012 Blood presence of circulating oncofetal fibronectin mRNA, by RT-PCR, does not represent a useful specific marker for the management and follow-up of thyroid cancer patients Vendittelli, F; Raffaelli, M; Fadda, Guido; Carelli Alinovi, Cristiana; Paolillo, C; Bellantone, R; Zuppi, C; Capoluongo, E.
1-gen-1999 Carbohydrate-deficient transferrin determination revisited with capillary electrophoresis: a new biochemical marker of chronic alcohol abuse Tagliaro, Franco; Bortolotti, F; Zuliani, M; Crivellente, F; Manetto, G; Pascali, Vincenzo Lorenzo; Marigo, M.
1-gen-2020 CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects Nasser, H.; Vera, L.; Elmaleh-Berges, M.; Steindl, K.; Letard, P.; Teissier, N.; Ernault, A.; Guimiot, F.; Afenjar, A.; Moutard, M. L.; Heron, D.; Alembik, Y.; Momtchilova, M.; Milani, P.; Kubis, N.; Pouvreau, N.; Zollino, M.; Guilmin Crepon, S.; Kaguelidou, F.; Gressens, P.; Verloes, A.; Rauch, A.; El Ghouzzi, V.; Drunat, S.; Passemard, S.
1-gen-2014 Central Hypogonadism (ICH). Germline prokineticin Receptor 2 (PROKR2) variants associated with central hypogonadism cause differential modulation of distinct intracellular pathways. Libri, D. V.; Kleinau, G.; Vezzoli, V.; Busnelli, M.; Guizzardi, F.; Sinisi, A. A.; Pincelli, A. I.; Mancini, Antonio; Russo, G.; Beck Peccoz, P.; Loche, S.; Crivellaro, C.; Maghnie, M.; Krausz, C.; Persani, L.; Bonomi, M.
1-gen-2011 Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome Neri, Giovanni; Nillesen, Wm; Yntema, Hg; Moscarda, Marco; Verbeek, Ne; Wilson, Lc; Cowan, F; Schepens, M; Raas Rothschild, A; Gafni, Weinstein; Zollino, Marcella; Vijzelaar, R; Nelen, M; Bokhoven, H; Giltay, J; Kleefstra, T.
1-gen-2009 Characterization of anti-D monoclonal antibody reagents based on their reactivity with the weak D phenotype Pascali, Vincenzo Lorenzo; Lai, Marco; Grasso, Cinzia; Boschi, Ilaria; D'Onofrio, Giuseppe; Leone, Giuseppe
1-gen-1988 Characterization of genetic variants of human serum transferrin by isoelectric focusing: Comparison between conventional and immobilized pH gradients, and application to a protocol for paternity testing Pascali, Vincenzo Lorenzo; Dobosz, Marina; Destro Bisol, G; D'Aloja, Ernesto
1-gen-1994 Chimpanzee DNA profiles on trial Pascali, Vincenzo Lorenzo; Destro Bisol, G.; Dobosz, Marina; D'Aloja, Ernesto; Paonessa, G.; Mereu, U.
1-gen-1998 Clinal variation in the nuclear DNA of Europeans Chikhi, L; Destro Bisol, G; Pascali, Vincenzo Lorenzo; Baravelli, V; Dobosz, Marina; Barbujani, G.
1-gen-2009 Clinal variation in the nuclear DNA of Europeans. 1998 Chikhi, L; Destro Bisol, G; Pascali, Vincenzo Lorenzo; Baravelli, V; Dobosz, Marina; Barbujani, G.
1-gen-1998 Clines of nuclear DNA markers suggest a largely Neolithic ancestry of the European gene pool Chikhi, L.; Destro Bisol, G.; Bertorelle, G.; Pascali, Vincenzo Lorenzo; Barbujani, G.
1-gen-2013 Clinical and genetic heterogeneity of amyotrophic lateral sclerosis Sabatelli, Mario; Conte, Amelia; Zollino, Marcella
1-gen-2011 Clinical, electrocardiographic, and electrophysiologic characteristics of patients with a fasciculoventricular pathway: The role of PRKAG2 mutation Sternick, Eb; Oliva, Antonio; Gerken, Lm; Magalhães, L; Scarpelli, R; Correia, Fs; Rego, S; Santana, O; Brugada, R; Wellens, Hj
1-gen-2021 Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis Tabolacci, E.; Pomponi, M. G.; Remondini, L.; Pietrobono, R.; Orteschi, D.; Nobile, V.; Pucci, C.; Musto, E.; Pane, M.; Mercuri, E. M.; Neri, G.; Genuardi, M.; Chiurazzi, P.; Zollino, M.
1-gen-2020 Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers Marangi, G.; Garcovich, S.; Di Sante, G.; Orteschi, D.; Frangella, S.; Scaldaferri, F.; Genuardi, M.; Peris, K.; Gurrieri, F.; Zollino, M.
1-gen-1998 Coordinating Y-chromosomal STR research for the courts Pascali, Vincenzo Lorenzo; Dobosz, Marina; Brinkmann, B.
1-gen-2019 Deciphering the patterns of genetic admixture and diversity in southern European cattle using genome-wide SNPs Upadhyay, M.; Bortoluzzi, C.; Barbato, M.; Ajmone Marsan, P.; Colli, L.; Ginja, C.; Sonstegard, T. S.; Bosse, M.; Lenstra, J. A.; Groenen, M. A. M.; Crooijmans, R. P. M. A.
Mostrati risultati da 18 a 37 di 149
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