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	41.	SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo. [electronic resource] by Baradaran-Heravi, Alireza Raams, Anja Lubieniecka, Joanna Cho, Kyoung Sang DeHaai, Kristi A Basiratnia, Mitra Mari, Pierre-Olivier Xue, Yutong Rauth, Michael Olney, Ann Haskins Shago, Mary Choi, Kunho Weksberg, Rosanna A Nowaczyk, Malgorzata J M Wang, Weidong Jaspers, Nicolaas G J Boerkoel, Cornelius F Producer: 20121109 In: American journal of medical genetics. Part A vol. 158A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	42.	Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure. [electronic resource] by van Kuilenburg, André B P Dobritzsch, Doreen Meinsma, Rutger Haasjes, Janet Waterham, Hans R Nowaczyk, Malgorzata J M Maropoulos, George D Hein, Guido Kalhoff, Hermann Kirk, Jean M Baaske, Holger Aukett, Anne Duley, John A Ward, Kate P Lindqvist, Ylva van Gennip, Albert H Producer: 20020618 In: The Biochemical journal vol. 364 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	43.	Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. [electronic resource] by Krantz, Ian D McCallum, Jennifer DeScipio, Cheryl Kaur, Maninder Gillis, Lynette A Yaeger, Dinah Jukofsky, Lori Wasserman, Nora Bottani, Armand Morris, Colleen A Nowaczyk, Malgorzata J M Toriello, Helga Bamshad, Michael J Carey, John C Rappaport, Eric Kawauchi, Shimako Lander, Arthur D Calof, Anne L Li, Hui-Hua Devoto, Marcella Jackson, Laird G Producer: 20040701 In: Nature genetics vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	44.	Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A. [electronic resource] by Campbell, Ian M Yatsenko, Svetlana A Hixson, Patricia Reimschisel, Tyler Thomas, Matthew Wilson, William Dayal, Usha Wheless, James W Crunk, Amy Curry, Cynthia Parkinson, Nicole Fishman, Leona Riviello, James J Nowaczyk, Malgorzata J M Zeesman, Susan Rosenfeld, Jill A Bejjani, Bassem A Shaffer, Lisa G Cheung, Sau Wai Lupski, James R Stankiewicz, Pawel Scaglia, Fernando Producer: 20130211 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	45.	Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of [electronic resource] by Jobling, Rebekah Stavropoulos, Dimitri James Marshall, Christian R Cytrynbaum, Cheryl Axford, Michelle M Londero, Vanessa Moalem, Sharon Orr, Jennifer Rossignol, Francis Lopes, Fatima Daniela Gauthier, Julie Alos, Nathalie Rupps, Rosemarie McKinnon, Margaret Adam, Shelin Nowaczyk, Malgorzata J M Walker, Susan Scherer, Stephen W Nassif, Christina Hamdan, Fadi F Deal, Cheri L Soucy, Jean-François Weksberg, Rosanna Macleod, Patrick Michaud, Jacques L Chitayat, David Producer: 20190923 In: Journal of medical genetics vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	46.	Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. [electronic resource] by Bennett, James T Tan, Tiong Yang Alcantara, Diana Tétrault, Martine Timms, Andrew E Jensen, Dana Collins, Sarah Nowaczyk, Malgorzata J M Lindhurst, Marjorie J Christensen, Katherine M Braddock, Stephen R Brandling-Bennett, Heather Hennekam, Raoul C M Chung, Brian Lehman, Anna Su, John Ng, SuYuen Amor, David J Majewski, Jacek Biesecker, Les G Boycott, Kym M Dobyns, William B O'Driscoll, Mark Moog, Ute McDonell, Laura M Producer: 20160725 In: American journal of human genetics vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	47.	Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. [electronic resource] by Hood, Rebecca L Lines, Matthew A Nikkel, Sarah M Schwartzentruber, Jeremy Beaulieu, Chandree Nowaczyk, Małgorzata J M Allanson, Judith Kim, Chong Ae Wieczorek, Dagmar Moilanen, Jukka S Lacombe, Didier Gillessen-Kaesbach, Gabriele Whiteford, Margo L Quaio, Caio Robledo D C Gomy, Israel Bertola, Debora R Albrecht, Beate Platzer, Konrad McGillivray, George Zou, Ruobing McLeod, D Ross Chudley, Albert E Chodirker, Bernard N Marcadier, Janet Majewski, Jacek Bulman, Dennis E White, Susan M Boycott, Kym M Producer: 20120619 In: American journal of human genetics vol. 90 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	48.	Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity. [electronic resource] by De Rocker, Nina Vergult, Sarah Koolen, David Jacobs, Eva Hoischen, Alexander Zeesman, Susan Bang, Birgitte Béna, Frédérique Bockaert, Nele Bongers, Ernie M de Ravel, Thomy Devriendt, Koenraad Giglio, Sabrina Faivre, Laurence Joss, Shelagh Maas, Saskia Marle, Nathalie Novara, Francesca Nowaczyk, Malgorzata J M Peeters, Hilde Polstra, Abeltje Roelens, Filip Rosenberg, Carla Thevenon, Julien Tümer, Zeynep Vanhauwaert, Suzanne Varvagiannis, Konstantinos Willaert, Andy Willemsen, Marjolein Willems, Marjolaine Zuffardi, Orsetta Coucke, Paul Speleman, Frank Eichler, Evan E Kleefstra, Tjitske Menten, Björn Producer: 20160224 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	49.	Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression. [electronic resource] by Lowther, Chelsea Speevak, Marsha Armour, Christine M Goh, Elaine S Graham, Gail E Li, Chumei Zeesman, Susan Nowaczyk, Malgorzata J M Schultz, Lee-Anne Morra, Antonella Nicolson, Rob Bikangaga, Peter Samdup, Dawa Zaazou, Mostafa Boyd, Kerry Jung, Jack H Siu, Victoria Rajguru, Manjulata Goobie, Sharan Tarnopolsky, Mark A Prasad, Chitra Dick, Paul T Hussain, Asmaa S Walinga, Margreet Reijenga, Renske G Gazzellone, Matthew Lionel, Anath C Marshall, Christian R Scherer, Stephen W Stavropoulos, Dimitri J McCready, Elizabeth Bassett, Anne S Producer: 20171207 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	50.	De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. [electronic resource] by Rivière, Jean-Baptiste van Bon, Bregje W M Hoischen, Alexander Kholmanskikh, Stanislav S O'Roak, Brian J Gilissen, Christian Gijsen, Sabine Sullivan, Christopher T Christian, Susan L Abdul-Rahman, Omar A Atkin, Joan F Chassaing, Nicolas Drouin-Garraud, Valerie Fry, Andrew E Fryns, Jean-Pierre Gripp, Karen W Kempers, Marlies Kleefstra, Tjitske Mancini, Grazia M S Nowaczyk, Małgorzata J M van Ravenswaaij-Arts, Conny M A Roscioli, Tony Marble, Michael Rosenfeld, Jill A Siu, Victoria M de Vries, Bert B A Shendure, Jay Verloes, Alain Veltman, Joris A Brunner, Han G Ross, M Elizabeth Pilz, Daniela T Dobyns, William B Producer: 20120530 In: Nature genetics vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	51.	De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. [electronic resource] by Chong, Jessica X McMillin, Margaret J Shively, Kathryn M Beck, Anita E Marvin, Colby T Armenteros, Jose R Buckingham, Kati J Nkinsi, Naomi T Boyle, Evan A Berry, Margaret N Bocian, Maureen Foulds, Nicola Uzielli, Maria Luisa Giovannucci Haldeman-Englert, Chad Hennekam, Raoul C M Kaplan, Paige Kline, Antonie D Mercer, Catherine L Nowaczyk, Malgorzata J M Klein Wassink-Ruiter, Jolien S McPherson, Elizabeth W Moreno, Regina A Scheuerle, Angela E Shashi, Vandana Stevens, Cathy A Carey, John C Monteil, Arnaud Lory, Philippe Tabor, Holly K Smith, Joshua D Shendure, Jay Nickerson, Deborah A Bamshad, Michael J Producer: 20150512 In: American journal of human genetics vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	52.	The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes. [electronic resource] by Curry, Cynthia J Rosenfeld, Jill A Grant, Erica Gripp, Karen W Anderson, Carol Aylsworth, Arthur S Saad, Taha Ben Chizhikov, Victor V Dybose, Giedre Fagerberg, Christina Falco, Michelle Fels, Christina Fichera, Marco Graakjaer, Jesper Greco, Donatella Hair, Jennifer Hopkins, Elizabeth Huggins, Marlene Ladda, Roger Li, Chumei Moeschler, John Nowaczyk, Malgorzata J M Ozmore, Jillian R Reitano, Santina Romano, Corrado Roos, Laura Schnur, Rhonda E Sell, Susan Suwannarat, Pim Svaneby, Dea Szybowska, Marta Tarnopolsky, Mark Tervo, Raymond Tsai, Anne Chun-Hui Tucker, Megan Vallee, Stephanie Wheeler, Ferrin C Zand, Dina J Barkovich, A James Aradhya, Swaroop Shaffer, Lisa G Dobyns, William B Producer: 20131017 In: American journal of medical genetics. Part A vol. 161A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	53.	Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. [electronic resource] by Verloes, Alain Di Donato, Nataliya Masliah-Planchon, Julien Jongmans, Marjolijn Abdul-Raman, Omar A Albrecht, Beate Allanson, Judith Brunner, Han Bertola, Debora Chassaing, Nicolas David, Albert Devriendt, Koen Eftekhari, Pirayeh Drouin-Garraud, Valérie Faravelli, Francesca Faivre, Laurence Giuliano, Fabienne Guion Almeida, Leina Juncos, Jorge Kempers, Marlies Eker, Hatice Koçak Lacombe, Didier Lin, Angela Mancini, Grazia Melis, Daniela Lourenço, Charles Marques Siu, Victoria Mok Morin, Gilles Nezarati, Marjan Nowaczyk, Malgorzata J M Ramer, Jeanette C Osimani, Sara Philip, Nicole Pierpont, Mary Ella Procaccio, Vincent Roseli, Zeichi-Seide Rossi, Massimiliano Rusu, Cristina Sznajer, Yves Templin, Ludivine Uliana, Vera Klaus, Mirjam Van Bon, Bregje Van Ravenswaaij, Conny Wainer, Bruce Fry, Andrew E Rump, Andreas Hoischen, Alexander Drunat, Séverine Rivière, Jean-Baptiste Dobyns, William B Pilz, Daniela T Producer: 20151022 In: European journal of human genetics : EJHG vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	54.	Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants. [electronic resource] by Pizzo, Lucilla Jensen, Matthew Polyak, Andrew Rosenfeld, Jill A Mannik, Katrin Krishnan, Arjun McCready, Elizabeth Pichon, Olivier Le Caignec, Cedric Van Dijck, Anke Pope, Kate Voorhoeve, Els Yoon, Jieun Stankiewicz, Paweł Cheung, Sau Wai Pazuchanics, Damian Huber, Emily Kumar, Vijay Kember, Rachel L Mari, Francesca Curró, Aurora Castiglia, Lucia Galesi, Ornella Avola, Emanuela Mattina, Teresa Fichera, Marco Mandarà, Luana Vincent, Marie Nizon, Mathilde Mercier, Sandra Bénéteau, Claire Blesson, Sophie Martin-Coignard, Dominique Mosca-Boidron, Anne-Laure Caberg, Jean-Hubert Bucan, Maja Zeesman, Susan Nowaczyk, Małgorzata J M Lefebvre, Mathilde Faivre, Laurence Callier, Patrick Skinner, Cindy Keren, Boris Perrine, Charles Prontera, Paolo Marle, Nathalie Renieri, Alessandra Reymond, Alexandre Kooy, R Frank Isidor, Bertrand Schwartz, Charles Romano, Corrado Sistermans, Erik Amor, David J Andrieux, Joris Girirajan, Santhosh 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)
	55.	The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. [electronic resource] by Nikkel, Sarah M Dauber, Andrew de Munnik, Sonja Connolly, Meghan Hood, Rebecca L Caluseriu, Oana Hurst, Jane Kini, Usha Nowaczyk, Malgorzata J M Afenjar, Alexandra Albrecht, Beate Allanson, Judith E Balestri, Paolo Ben-Omran, Tawfeg Brancati, Francesco Cordeiro, Isabel da Cunha, Bruna Santos Delaney, Louisa A Destrée, Anne Fitzpatrick, David Forzano, Francesca Ghali, Neeti Gillies, Greta Harwood, Katerina Hendriks, Yvonne M C Héron, Delphine Hoischen, Alexander Honey, Engela Magdalena Hoefsloot, Lies H Ibrahim, Jennifer Jacob, Claire M Kant, Sarina G Kim, Chong Ae Kirk, Edwin P Knoers, Nine V A M Lacombe, Didier Lee, Chung Lo, Ivan F M Lucas, Luiza S Mari, Francesca Mericq, Veronica Moilanen, Jukka S Møller, Sanne Traasdahl Moortgat, Stephanie Pilz, Daniela T Pope, Kate Price, Susan Renieri, Alessandra Sá, Joaquim Schoots, Jeroen Silveira, Elizabeth L Simon, Marleen E H Slavotinek, Anne Temple, I Karen van der Burgt, Ineke de Vries, Bert B A Weisfeld-Adams, James D Whiteford, Margo L Wierczorek, Dagmar Wit, Jan M Yee, Connie Fung On Beaulieu, Chandree L White, Sue M Bulman, Dennis E Bongers, Ernie Brunner, Han Feingold, Murray Boycott, Kym M Producer: 20150330 In: Orphanet journal of rare diseases vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	56.	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)