Ngā hua rapu - Digilio, Maria C.

Obituary of Dr. Angelo Di George mā Tarani, Luigi, Digilio, Maria C, Dallapiccola, Bruno, Mc Donald-McGinn, Donna M, Marino, Bruno

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

Defining language disorders in children and adolescents with Noonan Syndrome mā Lazzaro, Giulia, Caciolo, Cristina, Menghini, Deny, Cumbo, Francesca, Digilio, Maria C., Capolino, Rossella, Zampino, Giuseppe, Tartaglia, Marco, Vicari, Stefano, Alfieri, Paolo

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype mā Martinelli, Simone, De Luca, Alessandro, Stellacci, Emilia, Rossi, Cesare, Checquolo, Saula, Lepri, Francesca, Caputo, Viviana, Silvano, Marianna, Buscherini, Francesco, Consoli, Federica, Ferrara, Grazia, Digilio, Maria C., Cavaliere, Maria L., van Hagen, Johanna M., Zampino, Giuseppe, van der Burgt, Ineke, Ferrero, Giovanni B., Mazzanti, Laura, Screpanti, Isabella, Yntema, Helger G., Nillesen, Willy M., Savarirayan, Ravi, Zenker, Martin, Dallapiccola, Bruno, Gelb, Bruce D., Tartaglia, Marco

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

Germline BRAF mutations in Noonan, LEOPARD and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum mā Sarkozy, Anna, Carta, Claudio, Moretti, Sonia, Zampino, Giuseppe, Digilio, Maria C., Pantaleoni, Francesca, Scioletti, Anna Paola, Esposito, Giorgia, Cordeddu, Viviana, Lepri, Francesca, Petrangeli, Valentina, Dentici, Maria L., Mancini, Grazia M.S., Selicorni, Angelo, Rossi, Cesare, Mazzanti, Laura, Marino, Bruno, Ferrero, Giovanni B., Silengo, Margherita Cirillo, Memo, Luigi, Stanzial, Franco, Faravelli, Francesca, Stuppia, Liborio, Puxeddu, Efisio, Gelb, Bruce D., Dallapiccola, Bruno, Tartaglia, Marco

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

Mutation in SHOC2 promotes aberrant protein N-myristoylation and underlies Noonan-like syndrome with loose anagen hair mā Cordeddu, Viviana, Di Schiavi, Elia, Pennacchio, Len A., Ma'ayan, Avi, Sarkozy, Anna, Fodale, Valentina, Cecchetti, Serena, Cardinale, Alessio, Martin, Joel, Schackwitz, Wendy, Lipzen, Anna, Zampino, Giuseppe, Mazzanti, Laura, Digilio, Maria C., Martinelli, Simone, Flex, Elisabetta, Lepri, Francesca, Bartholdi, Deborah, Kutsche, Kerstin, Ferrero, Giovanni B., Anichini, Cecilia, Selicorni, Angelo, Rossi, Cesare, Tenconi, Romano, Zenker, Martin, Merlo, Daniela, Dallapiccola, Bruno, Iyengar, Ravi, Bazzicalupo, Paolo, Gelb, Bruce D., Tartaglia, Marco

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

SOS1 Mutations in Noonan Syndrome: Molecular Spectrum, Structural Insights on Pathogenic Effects, and Genotype–Phenotype Correlations mā Lepri, Francesca, De Luca, Alessandro, Stella, Lorenzo, Rossi, Cesare, Baldassarre, Giuseppina, Pantaleoni, Francesca, Cordeddu, Viviana, Williams, Bradley J, Dentici, Maria L, Caputo, Viviana, Venanzi, Serenella, Bonaguro, Michela, Kavamura, Ines, Faienza, Maria F, Pilotta, Alba, Stanzial, Franco, Faravelli, Francesca, Gabrielli, Orazio, Marino, Bruno, Neri, Giovanni, Silengo, Margherita Cirillo, Ferrero, Giovanni B, Torrrente, Isabella, Selicorni, Angelo, Mazzanti, Laura, Digilio, Maria C, Zampino, Giuseppe, Dallapiccola, Bruno, Gelb, Bruce D, Tartaglia, Marco

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients mā Micale, Lucia, Augello, Bartolomeo, Fusco, Carmela, Selicorni, Angelo, Loviglio, Maria N, Silengo, Margherita Cirillo, Reymond, Alexandre, Gumiero, Barbara, Zucchetti, Federica, D'Addetta, Ester V, Belligni, Elga, Calcagnì, Alessia, Digilio, Maria C, Dallapiccola, Bruno, Faravelli, Francesca, Forzano, Francesca, Accadia, Maria, Bonfante, Aldo, Clementi, Maurizio, Daolio, Cecilia, Douzgou, Sofia, Ferrari, Paola, Fischetto, Rita, Garavelli, Livia, Lapi, Elisabetta, Mattina, Teresa, Melis, Daniela, Patricelli, Maria G, Priolo, Manuela, Prontera, Paolo, Renieri, Alessandra, Mencarelli, Maria A, Scarano, Gioacchino, Monica, Matteo della, Toschi, Benedetta, Turolla, Licia, Vancini, Alessandra, Zatterale, Adriana, Gabrielli, Orazio, Zelante, Leopoldo, Merla, Giuseppe

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder mā Cuvertino, Sara, Stuart, Helen M., Chandler, Kate E., Roberts, Neil A., Armstrong, Ruth, Bernardini, Laura, Bhaskar, Sanjeev, Callewaert, Bert, Clayton-Smith, Jill, Davalillo, Cristina Hernando, Deshpande, Charu, Devriendt, Koenraad, Digilio, Maria C., Dixit, Abhijit, Edwards, Matthew, Friedman, Jan M., Gonzalez-Meneses, Antonio, Joss, Shelagh, Kerr, Bronwyn, Lampe, Anne Katrin, Langlois, Sylvie, Lennon, Rachel, Loget, Philippe, Ma, David Y.T., McGowan, Ruth, Des Medt, Maryse, O’Sullivan, James, Odent, Sylvie, Parker, Michael J., Pebrel-Richard, Céline, Petit, Florence, Stark, Zornitza, Stockler-Ipsiroglu, Sylvia, Tinschert, Sigrid, Vasudevan, Pradeep, Villa, Olaya, White, Susan M., Zahir, Farah R., Woolf, Adrian S., Banka, Siddharth

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation mā Koczkowska, Magdalena, Callens, Tom, Gomes, Alicia, Sharp, Angela, Chen, Yunjia, Hicks, Alesha D., Aylsworth, Arthur S., Azizi, Amedeo A., Basel, Donald G., Bellus, Gary, Bird, Lynne M., Blazo, Maria A., Burke, Leah W., Cannon, Ashley, Collins, Felicity, DeFilippo, Colette, Denayer, Ellen, Digilio, Maria C., Dills, Shelley K., Dosa, Laura, Greenwood, Robert S., Griffis, Cristin, Gupta, Punita, Hachen, Rachel K., Hernández-Chico, Concepción, Janssens, Sandra, Jones, Kristi J., Jordan, Justin T., Kannu, Peter, Korf, Bruce R., Lewis, Andrea M., Listernick, Robert H., Lonardo, Fortunato, Mahoney, Maurice J., Ojeda, Mayra Martinez, McDonald, Marie T., McDougall, Carey, Mendelsohn, Nancy, Miller, David T., Mori, Mari, Oostenbrink, Rianne, Perreault, Sebastién, Pierpont, Mary Ella, Piscopo, Carmelo, Pond, Dinel A., Randolph, Linda M., Rauen, Katherine A., Rednam, Surya, Rutledge, S. Lane, Saletti, Veronica, Schaefer, G. Bradley, Schorry, Elizabeth K., Scott, Daryl A., Shugar, Andrea, Siqveland, Elizabeth, Starr, Lois J., Syed, Ashraf, Trapane, Pamela L., Ullrich, Nicole J., Wakefield, Emily G., Walsh, Laurence E., Wangler, Michael F., Zackai, Elaine, Claes, Kathleen B. M., Wimmer, Katharina, van Minkelen, Rick, De Luca, Alessandro, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine M.

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation mā Koczkowska, Magdalena, Callens, Tom, Gomes, Alicia, Sharp, Angela, Chen, Yunjia, Hicks, Alesha D., Aylsworth, Arthur S., Azizi, Amedeo A., Basel, Donald G., Bellus, Gary, Bird, Lynne M., Blazo, Maria A., Burke, Leah W., Cannon, Ashley, Collins, Felicity, DeFilippo, Colette, Denayer, Ellen, Digilio, Maria C., Dills, Shelley K., Dosa, Laura, Greenwood, Robert S., Griffis, Cristin, Gupta, Punita, Hachen, Rachel K., Hernández-Chico, Concepción, Janssens, Sandra, Jones, Kristi J., Jordan, Justin T., Kannu, Peter, Korf, Bruce R., Lewis, Andrea M., Listernick, Robert H., Lonardo, Fortunato, Mahoney, Maurice J., Ojeda, Mayra Martinez, McDonald, Marie T., McDougall, Carey, Mendelsohn, Nancy, Miller, David T., Mori, Mari, Oostenbrink, Rianne, Perreault, Sebastién, Pierpont, Mary Ella, Piscopo, Carmelo, Pond, Dinel A., Randolph, Linda M., Rauen, Katherine A., Rednam, Surya, Rutledge, S. Lane, Saletti, Veronica, Schaefer, G. Bradley, Schorry, Elizabeth K., Scott, Daryl A., Shugar, Andrea, Siqveland, Elizabeth, Starr, Lois J., Syed, Ashraf, Trapane, Pamela L., Ullrich, Nicole J., Wakefield, Emily G., Walsh, Laurence E., Wangler, Michael F., Zackai, Elaine, Claes, Kathleen B. M., Wimmer, Katharina, van Minkelen, Rick, De Luca, Alessandro, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine M.

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1 mā 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., Bengala, Mario, 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, 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., 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, Pappas, John G., 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., Santoro, Claudia, Schatz, Ulrich A., Schreiber, Allison, 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., 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.

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion mā Cleynen, Isabelle, Engchuan, Worrawat, Hestand, Matthew S., Heung, Tracy, Holleman, Aaron M., Johnston, H. Richard, Monfeuga, Thomas, McDonald-McGinn, Donna M., Gur, Raquel E., Morrow, Bernice E., Swillen, Ann, Vorstman, Jacob A.S., Bearden, Carrie E., Chow, Eva W. C., van den Bree, Marianne, Emanuel, Beverly S., Vermeesch, Joris R., Warren, Stephen T., Owen, Michael J., Chopra, Pankaj, Cutler, David J., Duncan, Richard, Kotlar, Alex V., Mulle, Jennifer G., Voss, Anna J., Zwick, Michael E., Diacou, Alexander, Golden, Aaron, Guo, Tingwei, Lin, Jhih-Rong, Wang, Tao, Zhang, Zhengdong, Zhao, Yingjie, Marshall, Christian, Merico, Daniele, Jin, Andrea, Lilley, Brenna, Salmons, Harold I., Tran, Oanh, Holmans, Peter, Pardinas, Antonio, Walters, James T.R., Demaerel, Wolfram, Boot, Erik, Butcher, Nancy J., Costain, Gregory A., Lowther, Chelsea, Evers, Rens, van Amelsvoort, Therese A.M.J, van Duin, Esther, Vingerhoets, Claudia, Breckpot, Jeroen, Devriendt, Koen, Vergaelen, Elfi, Vogels, Annick, Crowley, T. Blaine, McGinn, Daniel E., Moss, Edward M., Sharkus, Robert J., Unolt, Marta, Zackai, Elaine H., Calkins, Monica E., Gallagher, Robert S., Gur, Ruben C., Tang, Sunny X., Fritsch, Rosemarie, Ornstein, Claudia, Repetto, Gabriela M., Breetvelt, Elemi, Duijff, Sasja N., Fiksinski, Ania, Moss, Hayley, Niarchou, Maria, Murphy, Kieran C., Prasad, Sarah E., Daly, Eileen M., Gudbrandsen, Maria, Murphy, Clodagh M., Murphy, Declan G., Buzzanca, Antonio, Di Fabio, Fabio, Digilio, Maria C., Pontillo, Maria, Marino, Bruno, Vicari, Stefano, Coleman, Karlene, Cubells, Joseph F., Ousley, Opal Y., Carmel, Miri, Gothelf, Doron, Mekori-Domachevsky, Ehud, Michaelovsky, Elena, Weinberger, Ronnie, Weizman, Abraham, Kushan, Leila, Jalbrzikowski, Maria, Armando, Marco, Eliez, Stéphan, Sandini, Corrado, Schneider, Maude, Béna, Frédérique Sloan, Antshel, Kevin M., Fremont, Wanda, Kates, Wendy R., Belzeaux, Raoul, Busa, Tiffany, Philip, Nicole, Campbell, Linda E., McCabe, Kathryn L., Hooper, Stephen R., Schoch, Kelly, Shashi, Vandana, Simon, Tony J., Tassone, Flora, Arango, Celso, Fraguas, David, García-Miñaúr, Sixto, Morey-Canyelles, Jaume, Rosell, Jordi, Suñer, Damià H., Raventos-Simic, Jasna, Epstein, Michael P., Williams, Nigel M., Bassett, Anne S.

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa