Alport syndrome: impact of digenic inheritance in patients management by Fallerini, C., Baldassarri, M., Trevisson, E., Morbidoni, V., La Manna, A., Lazzarin, R., Pasini, A., Barbano, G., Pinciaroli, A.R., Garosi, G., Frullanti, E., Pinto, A.M., Mencarelli, M.A., Mari, F., Renieri, A., Ariani, F.

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Dysfunctional coping is related to impaired skin‐related quality of life and psychological distress in patients with neurofibromatosis type 1 with major skin involvement by Bottesi, G., Spoto, A., Trevisson, E., Zuccarello, D., Vidotto, G., Cassina, M., Clementi, M.

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LETM1, deleted in Wolf–Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability by Dimmer, Kai Stefan, Navoni, Francesca, Casarin, Alberto, Trevisson, Eva, Endele, Sabine, Winterpacht, Andreas, Salviati, Leonardo, Scorrano, Luca

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Osteopathia striata with cranial sclerosis and Wilms tumor: Coincidence or consequence? by Sperotto, F., Bisogno, G., Opocher, E., Rossi, S., Rigon, C., Trevisson, E., Mercolini, F.

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Neurofibromatosis type 1 in two siblings due to maternal germline mosaicism by Trevisson, E., Forzan, M., Salviati, L., Clementi, M.

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Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants by Gigante, M., Diella, S., Santangelo, L., Trevisson, E., Acosta, M.J., Amatruda, M., Finzi, G., Caridi, G., Murer, L., Accetturo, M., Ranieri, E., Ghiggeri, G.M., Giordano, M., Grandaliano, G., Salviati, L., Gesualdo, L.

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Numerical activities of daily living in adults with neurofibromatosis type 1 by Burgio, F., Benavides‐Varela, S., Arcara, G., Trevisson, E., Frizziero, D., Clementi, M., Semenza, C.

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M.P.3.12 Characterization of COX16 , a novel human gene required for cytochrome c oxidase assembly by Sacconi, S, Trevisson, E, Casarin, A, Salviati, L, Desnuelle, C

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A functionally dominant mitochondrial DNA mutation by Sacconi, Sabrina, Salviati, Leonardo, Nishigaki, Yutaka, Walker, Winsome F., Hernandez-Rosa, Evelyn, Trevisson, Eva, Delplace, Severine, Desnuelle, Claude, Shanske, Sara, Hirano, Michio, Schon, Eric A., Bonilla, Eduardo, De Vivo, Darryl C., DiMauro, Salvatore, Davidson, Mercy M.

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hCOX18 and hCOX19: Two human genes involved in cytochrome c oxidase assembly by Sacconi, Sabrina, Trevisson, Eva, Pistollato, Francesca, Baldoin, Maria Cristina, Rezzonico, Roger, Bourget, Isabelle, Desnuelle, Claude, Tenconi, Romano, Basso, Giuseppe, DiMauro, Salvatore, Salviati, Leonardo

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A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q sub(10) Deficiency by Quinzii, C, Naini, A, Salviati, L, Trevisson, E, Navas, P, DiMauro, S, Hirano, M

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Functional characterization of human COQ4, a gene required for Coenzyme Q sub(1) sub(0) biosynthesis by Casarin, A, Jimenez-Ortega, J C, Trevisson, E, Pertegato, V, Doimo, M, Ferrero-Gomez, M L, Abbadi, S, Artuch, R, Quinzii, C, Hirano, M, Basso, G, Ocana, C S, Navas, P, Salviati, L

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Osteopathia striata with cranial sclerosis and Wilms tumor: Coincidence or consequence? by Sperotto, F, Bisogno, G, Opocher, E, Rossi, S, Rigon, C, Trevisson, E, Mercolini, F

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Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants by Gigante, M, Diella, S, Santangelo, L, Trevisson, E, Acosta, M J, Amatruda, M, Finzi, G, Caridi, G, Murer, L, Accetturo, M, Ranieri, E, Ghiggeri, G M, Giordano, M, Grandaliano, G, Salviati, L, Gesualdo, L

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Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation by Legius, Eric, Messiaen, Ludwine, Wolkenstein, Pierre, Pancza, Patrice, Avery, Robert A., Berman, Yemima, Blakeley, Jaishri, Babovic-Vuksanovic, Dusica, Cunha, Karin Soares, Ferner, Rosalie, Fisher, Michael J., Friedman, Jan M., Gutmann, David H., Kehrer-Sawatzki, Hildegard, Korf, Bruce R., Mautner, Victor-Felix, Peltonen, Sirkku, Rauen, Katherine A., Riccardi, Vincent, Schorry, Elizabeth, Stemmer-Rachamimov, Anat, Stevenson, David A., Tadini, Gianluca, Ullrich, Nicole J., Viskochil, David, Wimmer, Katharina, Yohay, Kaleb, Gomes, Alicia, Jordan, Justin T., Mautner, Victor, Merker, Vanessa L., Smith, Miriam J., Stevenson, David, Anten, Monique, Aylsworth, Arthur, Baralle, Diana, Barbarot, Sebastien, Barker, Fred, Ben-Shachar, Shay, Bergner, Amanda, Bessis, Didier, Blanco, Ignacio, Cassiman, Catherine, Ciavarelli, Patricia, Clementi, Maurizio, Frébourg, Thierry, Giovannini, Marco, Halliday, Dorothy, Hammond, Chris, Hanemann, C.O., Hanson, Helen, Heiberg, Arvid, Joly, Pascal, Kalamarides, Michel, Karajannis, Matthias, Kroshinsky, Daniela, Larralde, Margarita, Lázaro, Conxi, Le, Lu, Link, Michael, Listernick, Robert, MacCollin, Mia, Mallucci, Conor, Moertel, Christopher, Mueller, Amy, Ngeow, Joanne, Oostenbrink, Rianne, Packer, Roger, Papi, Laura, Parry, Allyson, Peltonen, Juha, Pichard, Dominique, Poppe, Bruce, Rezende, Nilton, Rodrigues, Luiz Oswaldo, Rosser, Tena, Ruggieri, Martino, Serra, Eduard, Steinke-Lange, Verena, Stivaros, Stavros Michael, Taylor, Amy, Toelen, Jaan, Tonsgard, James, Trevisson, Eva, Upadhyaya, Meena, Varan, Ali, Wilson, Meredith, Wu, Hao, Zadeh, Gelareh, Huson, Susan M., Evans, D. Gareth, Plotkin, Scott R.

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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1 by Koczkowska, Magdalena, Callens, Tom, Chen, Yunjia, Gomes, Alicia, Hicks, Alesha D., Sharp, Angela, Johns, Eric, Uhas, Kim Armfield, Armstrong, Linlea, Bosanko, Katherine Armstrong, Babovic‐Vuksanovic, Dusica, Baker, Laura, Basel, Donald G., Bennett, James T., Chambers, Chelsea, Clarkson, Lola K., Clementi, Maurizio, Cortés, Fanny M., Cunningham, Mitch, D'Agostino, M. Daniela, Delatycki, Martin B., Digilio, Maria C., Dosa, Laura, Esposito, Silvia, Fox, Stephanie, Freckmann, Mary‐Louise, Fauth, Christine, Giugliano, Teresa, Giustini, Sandra, Goetsch, Allison, Greenwood, Robert S., Griffis, Cristin, Gripp, Karen W., Gupta, Punita, Haan, Eric, Hachen, Rachel K., Haygarth, Tamara L., Hernández‐Chico, Concepción, Hodge, Katelyn, Hopkin, Robert J., Hudgins, Louanne, Janssens, Sandra, Keller, Kory, Kelly‐Mancuso, Geraldine, Kochhar, Aaina, Korf, Bruce R., Lewis, Andrea M., Liebelt, Jan, Lichty, Angie, Listernick, Robert H., Lyons, Michael J., Maystadt, Isabelle, Martinez Ojeda, Mayra, McDougall, Carey, McGregor, Lesley K., Melis, Daniela, Mendelsohn, Nancy, Nowaczyk, Malgorzata J.M., Ortenberg, June, Panzer, Karin, Pierpont, Mary Ella, Piluso, Giulio, Pinna, Valentina, Pivnick, Eniko K., Pond, Dinel A., Powell, Cynthia M., Rogers, Caleb, Ruhrman Shahar, Noa, Rutledge, S. Lane, Saletti, Veronica, Sandaradura, Sarah A., Schatz, Ulrich A., Scott, Daryl A., Sellars, Elizabeth A., Sheffer, Ruth, Siqveland, Elizabeth, Slopis, John M., Smith, Rosemarie, Spalice, Alberto, Stockton, David W., Streff, Haley, Theos, Amy, Tomlinson, Gail E., Tran, Grace, Trapane, Pamela L., Trevisson, Eva, Ullrich, Nicole J., Van den Ende, Jenneke, Schrier Vergano, Samantha A., Wallace, Stephanie E., Wangler, Michael F., Yohay, Kaleb H., Zackai, Elaine, Zonana, Jonathan, Claes, Kathleen B. M., Eoli, Marica, Wimmer, Katharina, De Luca, Alessandro, Legius, Eric, Messiaen, Ludwine M.

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Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3 by Cameron-Christie, Sophia R., Wells, Constance F., Simon, Marleen, Wessels, Marja, Tang, Candy Z.N., Wei, Wenhua, Takei, Riku, Aarts-Tesselaar, Coranne, Sandaradura, Sarah, Sillence, David O., Cordier, Marie-Pierre, Veenstra-Knol, Hermine E., Cassina, Matteo, Ludwig, Kathrin, Trevisson, Eva, Bahlo, Melanie, Markie, David M., Jenkins, Zandra A., Robertson, Stephen P.

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Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3 by Cameron-Christie, Sophia R., Wells, Constance F., Simon, Marleen, Wessels, Marja, Tang, Candy Z.N., Wei, Wenhua, Takei, Riku, Aarts-Tesselaar, Coranne, Sandaradura, Sarah, Sillence, David O., Cordier, Marie-Pierre, Veenstra-Knol, Hermine E., Cassina, Matteo, Ludwig, Kathrin, Trevisson, Eva, Bahlo, Melanie, Markie, David M., Jenkins, Zandra A., Robertson, Stephen P.

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Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1 by Koczkowska, Magdalena, Callens, Tom, Chen, Yunjia, Gomes, Alicia, Hicks, Alesha D., Sharp, Angela, Armstrong, Linlea, Bosanko, Katherine Armstrong, Babovic‐Vuksanovic, Dusica, Baker, Laura, Basel, Donald G., Bengala, Mario, Chambers, Chelsea, Clarkson, Lola K., Clementi, Maurizio, Cortés, Fanny M., Cunningham, Mitch, D'Agostino, M. Daniela, Delatycki, Martin B., Digilio, Maria C., Dosa, Laura, Esposito, Silvia, Fox, Stephanie, Freckmann, Mary‐Louise, Fauth, Christine, Giugliano, Teresa, Giustini, Sandra, Goetsch, Allison, Goldberg, Yael, Greenwood, Robert S., Griffis, Cristin, Gripp, Karen W., Gupta, Punita, Haan, Eric, Hachen, Rachel K., Haygarth, Tamara L., Hernández‐Chico, Concepción, Hodge, Katelyn, Hopkin, Robert J., Janssens, Sandra, Keller, Kory, Kelly‐Mancuso, Geraldine, Kochhar, Aaina, Korf, Bruce R., Lewis, Andrea M., Liebelt, Jan, Lichty, Angie, Listernick, Robert H., Lyons, Michael J., Maystadt, Isabelle, Martinez Ojeda, Mayra, McDougall, Carey, McGregor, Lesley K., Melis, Daniela, Mendelsohn, Nancy, Nowaczyk, Malgorzata J.M., Panzer, Karin, Pappas, John G., Pierpont, Mary Ella, Piluso, Giulio, Pinna, Valentina, Pivnick, Eniko K., Pond, Dinel A., Rogers, Caleb, Ruhrman Shahar, Noa, Rutledge, S. Lane, Saletti, Veronica, Sandaradura, Sarah A., Santoro, Claudia, Schatz, Ulrich A., Schreiber, Allison, Scott, Daryl A., Sheffer, Ruth, Siqveland, Elizabeth, Slopis, John M., Smith, Rosemarie, Spalice, Alberto, Streff, Haley, Theos, Amy, Tomlinson, Gail E., Tran, Grace, Trapane, Pamela L., Trevisson, Eva, Ullrich, Nicole J., Van den Ende, Jenneke, Schrier Vergano, Samantha A., Wallace, Stephanie E., Wangler, Michael F., Weaver, David D., Yohay, Kaleb H., Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen B. M., Eoli, Marica, Martin, Yolanda, Wimmer, Katharina, De Luca, Alessandro, Legius, Eric, Messiaen, Ludwine M.

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FAME: a new beamline for x-ray absorption investigations of very-diluted systems of environmental, material and biological interests by Proux, O, Biquard, X, Lahera, E, Menthonnex, J-J, Prat, A, Ulrich, O, Soldo, Y, Trévisson, P, Kapoujyan, G, Perroux, G, Taunier, P, Grand, D, Jeantet, P, Deleglise, M, Roux, J-P, Hazemann, J-L

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