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	21.	SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. [electronic resource] by 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 Producer: 20111014 In: Human mutation vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	22.	Recurrent duplications of 17q12 associated with variable phenotypes. [electronic resource] by Mitchell, Elyse Douglas, Andrew Kjaegaard, Susanne Callewaert, Bert Vanlander, Arnaud Janssens, Sandra Yuen, Amy Lawson Skinner, Cindy Failla, Pinella Alberti, Antonino Avola, Emanuela Fichera, Marco Kibaek, Maria Digilio, Maria C Hannibal, Mark C den Hollander, Nicolette S Bizzarri, Veronica Renieri, Alessandra Mencarelli, Maria Antonietta Fitzgerald, Tomas Piazzolla, Serena van Oudenhove, Elke Romano, Corrado Schwartz, Charles Eichler, Evan E Slavotinek, Anne Escobar, Luis Rajan, Diana Crolla, John Carter, Nigel Hodge, Jennelle C Mefford, Heather C Producer: 20161017 In: American journal of medical genetics. Part A vol. 167A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	23.	Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. [electronic resource] by Guo, Tingwei McDonald-McGinn, Donna Blonska, Anna Shanske, Alan Bassett, Anne S Chow, Eva Bowser, Mark Sheridan, Molly Beemer, Frits Devriendt, Koen Swillen, Ann Breckpot, Jeroen Digilio, Maria C Marino, Bruno Dallapiccola, Bruno Carpenter, Courtney Zheng, Xin Johnson, Jacob Chung, Jonathan Higgins, Anne Marie Philip, Nicole Simon, Tony J Coleman, Karlene Heine-Suner, Damian Rosell, Jordi Kates, Wendy Devoto, Marcella Goldmuntz, Elizabeth Zackai, Elaine Wang, Tao Shprintzen, Robert Emanuel, Beverly Morrow, Bernice Producer: 20120531 In: Human mutation vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	24.	Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients. [electronic resource] by 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 della Monica, Matteo Toschi, Benedetta Turolla, Licia Vancini, Alessandra Zatterale, Adriana Gabrielli, Orazio Zelante, Leopoldo Merla, Giuseppe Producer: 20111121 In: Orphanet journal of rare diseases vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	25.	ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder. [electronic resource] by 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 Producer: 20180102 In: American journal of human genetics vol. 101 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	26.	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. [electronic resource] by 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 Publication details: Genetics in medicine : official journal of the American College of Medical Genetics 03 2019 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	27.	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. [electronic resource] by 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 Producer: 20190618 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	28.	Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. [electronic resource] 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 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 Producer: 20210519 In: Human mutation vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	29.	Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion. [electronic resource] by 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 Fabio, Fabio Di 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 Producer: 20220127 In: Molecular psychiatry vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)