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Journal Article
by Koczkowska, Magdalena and Callens, Tom and Chen, Yunjia and Gomes, Alicia and Hicks, Alesha D and Sharp, Angela and Johns, Eric and Uhas, Kim Armfield and Armstrong, Linlea and Bosanko, Katherine Armstrong and Babovic‐Vuksanovic, Dusica and Baker, Laura and Basel, Donald G and Bengala, Mario and Bennett, James T and Chambers, Chelsea and Clarkson, Lola K and Clementi, Maurizio and Cortés, Fanny M and Cunningham, Mitch and D'Agostino, M. Daniela and Delatycki, Martin B and Digilio, Maria C and Dosa, Laura and Esposito, Silvia and Fox, Stephanie and Freckmann, Mary‐Louise and Fauth, Christine and Giugliano, Teresa and Giustini, Sandra and Goetsch, Allison and Goldberg, Yael and Greenwood, Robert S and Griffis, Cristin and Gripp, Karen W and Gupta, Punita and Haan, Eric and Hachen, Rachel K and Haygarth, Tamara L and Hernández‐Chico, Concepción and Hodge, Katelyn and Hopkin, Robert J and Hudgins, Louanne and Janssens, Sandra and Keller, Kory and Kelly‐Mancuso, Geraldine and Kochhar, Aaina and Korf, Bruce R and Lewis, Andrea M and Liebelt, Jan and Lichty, Angie and Listernick, Robert H and Lyons, Michael J and Maystadt, Isabelle and Martinez Ojeda, Mayra and McDougall, Carey and McGregor, Lesley K and Melis, Daniela and Mendelsohn, Nancy and Nowaczyk, Malgorzata J.M and Ortenberg, June and Panzer, Karin and Pappas, John G and Pierpont, Mary Ella and Piluso, Giulio and Pinna, Valentina and Pivnick, Eniko K and Pond, Dinel A and Powell, Cynthia M and Rogers, Caleb and Ruhrman Shahar, Noa and Rutledge, S. Lane and Saletti, Veronica and Sandaradura, Sarah A and Santoro, Claudia and Schatz, Ulrich A and Schreiber, Allison and Scott, Daryl A and Sellars, Elizabeth A and Sheffer, Ruth and Siqveland, Elizabeth and Slopis, John M and Smith, Rosemarie and Spalice, Alberto and Stockton, David W and Streff, Haley and Theos, Amy and Tomlinson, Gail E and Tran, Grace and Trapane, Pamela L and Trevisson, Eva and Ullrich, Nicole J and Van den Ende, Jenneke and Schrier Vergano, Samantha A and Wallace, Stephanie E and Wangler, Michael F and Weaver, David D and Yohay, Kaleb H and Zackai, Elaine and Zonana, Jonathan and ...
Human Mutation, ISSN 1059-7794, 01/2020, Volume 41, Issue 1, pp. 299 - 315
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 05/2017, Volume 25, Issue 5, pp. 552 - 559
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2012, Volume 7, Issue 1, pp. 70 - 70
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 11/2016, Volume 11, Issue 1, pp. 1 - 12
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2014, Volume 22, Issue 1, pp. 57 - 63
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 02/2012, Volume 49, Issue 2, pp. 110 - 118
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2014, Volume 95, Issue 5, pp. 579 - 583
Journal Article
by Koczkowska, Magdalena and Callens, Tom and Chen, Yunjia and Gomes, Alicia and Hicks, Alesha D and Sharp, Angela and Johns, Eric and Uhas, Kim Armfield and Armstrong, Linlea and Bosanko, Katherine Armstrong and Babovic‐Vuksanovic, Dusica and Baker, Laura and Basel, Donald G and Bengala, Mario and Bennett, James T and Chambers, Chelsea and Clarkson, Lola K and Clementi, Maurizio and Cortés, Fanny M and Cunningham, Mitch and D'Agostino, M. Daniela and Delatycki, Martin B and Digilio, Maria C and Dosa, Laura and Esposito, Silvia and Fox, Stephanie and Freckmann, Mary‐Louise and Fauth, Christine and Giugliano, Teresa and Giustini, Sandra and Goetsch, Allison and Goldberg, Yael and Greenwood, Robert S and Griffis, Cristin and Gripp, Karen W and Gupta, Punita and Haan, Eric and Hachen, Rachel K and Haygarth, Tamara L and Hernández‐Chico, Concepción and Hodge, Katelyn and Hopkin, Robert J and Hudgins, Louanne and Janssens, Sandra and Keller, Kory and Kelly‐Mancuso, Geraldine and Kochhar, Aaina and Korf, Bruce R and Lewis, Andrea M and Liebelt, Jan and Lichty, Angie and Listernick, Robert H and Lyons, Michael J and Maystadt, Isabelle and Martinez Ojeda, Mayra and McDougall, Carey and McGregor, Lesley K and Melis, Daniela and Mendelsohn, Nancy and Nowaczyk, Malgorzata J.M and Ortenberg, June and Panzer, Karin and Pappas, John G and Pierpont, Mary Ella and Piluso, Giulio and Pinna, Valentina and Pivnick, Eniko K and Pond, Dinel A and Powell, Cynthia M and Rogers, Caleb and Ruhrman Shahar, Noa and Rutledge, S. Lane and Saletti, Veronica and Sandaradura, Sarah A and Santoro, Claudia and Schatz, Ulrich A and Schreiber, Allison and Scott, Daryl A and Sellars, Elizabeth A and Sheffer, Ruth and Siqveland, Elizabeth and Slopis, John M and Smith, Rosemarie and Spalice, Alberto and Stockton, David W and Streff, Haley and Theos, Amy and Tomlinson, Gail E and Tran, Grace and Trapane, Pamela L and Trevisson, Eva and Ullrich, Nicole J and Van den Ende, Jenneke and Schrier Vergano, Samantha A and Wallace, Stephanie E and Wangler, Michael F and Weaver, David D and Yohay, Kaleb H and Zackai, Elaine and Zonana, Jonathan and ...
Human Mutation, ISSN 1059-7794, 01/2020, Volume 41, Issue 1, pp. 299 - 315
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2012, Volume 21, Issue 11, pp. 2572 - 2586
Journal Article