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	1.	New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation. [electronic resource] by Roohi, Jasmin Crowe, Jennifer Loredan, Denis Anyane-Yeboa, Kwame Mansukhani, Mahesh M Omesi, Lenore Levine, Jennifer Revah Politi, Anya Zha, Shan Producer: 20180111 In: Journal of human genetics vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series. [electronic resource] by Revah-Politi, Anya Ganapathi, Mythily Bier, Louise Cho, Megan T Goldstein, David B Hemati, Parisa Iglesias, Alejandro Juusola, Jane Pappas, John Petrovski, Slavé Wilson, Ashley L Aggarwal, Vimla S Anyane-Yeboa, Kwame Producer: 20180321 In: American journal of medical genetics. Part A vol. 173 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay. [electronic resource] by Hiatt, Susan M Neu, Matthew B Ramaker, Ryne C Hardigan, Andrew A Prokop, Jeremy W Hancarova, Miroslava Prchalova, Darina Havlovicova, Marketa Prchal, Jan Stranecky, Viktor Yim, Dwight K C Powis, Zöe Keren, Boris Nava, Caroline Mignot, Cyril Rio, Marlene Revah-Politi, Anya Hemati, Parisa Stong, Nicholas Iglesias, Alejandro D Suchy, Sharon F Willaert, Rebecca Wentzensen, Ingrid M Wheeler, Patricia G Brick, Lauren Kozenko, Mariya Hurst, Anna C E Wheless, James W Lacassie, Yves Myers, Richard M Barsh, Gregory S Sedlacek, Zdenek Cooper, Gregory M Producer: 20190208 In: PLoS genetics vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Correction: Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study. [electronic resource] by Rasouly, Hila Milo Wynn, Julia Marasa, Maddalena Reingold, Rachel Chatterjee, Debanjana Kapoor, Sheena Piva, Stacy Kil, Byum Hee Mu, Xueru Alvarez, Maria Nestor, Jordan Mehl, Karla Revah-Politi, Anya Lippa, Natalie Ernst, Michelle E Bier, Louise Espinal, Aileen Haser, Bianca Sinha, Anoushka Halim, Ian Fasel, David Cuneo, Nicole Thompson, Jacqueline J Verbitsky, Miguel Cohn, Elizabeth G Goldman, Jill Marder, Karen Klitzman, Robert L Orjuela, Manuela A So, Yat S Fedotov, Alex Crew, Katherine D Kiryluk, Krzysztof Appelbaum, Paul S Weng, Chunhua Siegel, Karolynn Gharavi, Ali G Chung, Wendy K Publication details: Genetics in medicine : official journal of the American College of Medical Genetics Oct 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)
	5.	Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study. [electronic resource] by Milo Rasouly, Hila Wynn, Julia Marasa, Maddalena Reingold, Rachel Chatterjee, Debanjana Kapoor, Sheena Piva, Stacy Kil, Byum Hee Mu, Xueru Alvarez, Maria Nestor, Jordan Mehl, Karla Revah-Politi, Anya Lippa, Natalie Ernst, Michelle E Bier, Louise Espinal, Aileen Haser, Bianca Sinha, Anoushka Halim, Ian Fasel, David Cuneo, Nicole Thompson, Jacqueline J Verbitsky, Miguel Cohn, Elizabeth G Goldman, Jill Marder, Karen Klitzman, Robert L Orjuela, Manuela A So, Yat S Fedotov, Alex Crew, Katherine D Kiryluk, Krzysztof Appelbaum, Paul S Weng, Chunhua Siegel, Karolynn Gharavi, Ali G Chung, Wendy K Producer: 20200317 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)
	6.	De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. [electronic resource] by Lessel, Davor Schob, Claudia Küry, Sébastien Reijnders, Margot R F Harel, Tamar Eldomery, Mohammad K Coban-Akdemir, Zeynep Denecke, Jonas Edvardson, Shimon Colin, Estelle Stegmann, Alexander P A Gerkes, Erica H Tessarech, Marine Bonneau, Dominique Barth, Magalie Besnard, Thomas Cogné, Benjamin Revah-Politi, Anya Strom, Tim M Rosenfeld, Jill A Yang, Yaping Posey, Jennifer E Immken, LaDonna Oundjian, Nelly Helbig, Katherine L Meeks, Naomi Zegar, Kelsey Morton, Jenny Schieving, Jolanda H Claasen, Ana Huentelman, Matthew Narayanan, Vinodh Ramsey, Keri Brunner, Han G Elpeleg, Orly Mercier, Sandra Bézieau, Stéphane Kubisch, Christian Kleefstra, Tjitske Kindler, Stefan Lupski, James R Kreienkamp, Hans-Jürgen Publication details: American journal of human genetics 01 2018 In: American journal of human genetics vol. 102 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. [electronic resource] by Lessel, Davor Schob, Claudia Küry, Sébastien Reijnders, Margot R F Harel, Tamar Eldomery, Mohammad K Coban-Akdemir, Zeynep Denecke, Jonas Edvardson, Shimon Colin, Estelle Stegmann, Alexander P A Gerkes, Erica H Tessarech, Marine Bonneau, Dominique Barth, Magalie Besnard, Thomas Cogné, Benjamin Revah-Politi, Anya Strom, Tim M Rosenfeld, Jill A Yang, Yaping Posey, Jennifer E Immken, LaDonna Oundjian, Nelly Helbig, Katherine L Meeks, Naomi Zegar, Kelsey Morton, Jenny Schieving, Jolanda H Claasen, Ana Huentelman, Matthew Narayanan, Vinodh Ramsey, Keri Brunner, Han G Elpeleg, Orly Mercier, Sandra Bézieau, Stéphane Kubisch, Christian Kleefstra, Tjitske Kindler, Stefan Lupski, James R Kreienkamp, Hans-Jürgen Producer: 20171113 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)
	8.	Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability. [electronic resource] by Verheije, Rosalind Kupchik, Gabriel S Isidor, Bertrand Kroes, Hester Y Lynch, Sally Ann Hawkes, Lara Hempel, Maja Gelb, Bruce D Ghoumid, Jamal D'Amours, Guylaine Chandler, Kate Dubourg, Christèle Loddo, Sara Tümer, Zeynep Shaw-Smith, Charles Nizon, Mathilde Shevell, Michael Van Hoof, Evelien Anyane-Yeboa, Kwame Cerbone, Gaetana Clayton-Smith, Jill Cogné, Benjamin Corre, Pierre Corveleyn, Anniek De Borre, Marie Hjortshøj, Tina Duelund Fradin, Mélanie Gewillig, Marc Goldmuntz, Elizabeth Hens, Greet Lemyre, Emmanuelle Journel, Hubert Kini, Usha Kortüm, Fanny Le Caignec, Cedric Novelli, Antonio Odent, Sylvie Petit, Florence Revah-Politi, Anya Stong, Nicholas Strom, Tim M van Binsbergen, Ellen Devriendt, Koenraad Breckpot, Jeroen Producer: 20190509 In: European journal of human genetics : EJHG vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature. [electronic resource] by Hemati, Parisa Revah-Politi, Anya Bassan, Haim Petrovski, Slavé Bilancia, Colleen G Ramsey, Keri Griffin, Nicole G Bier, Louise Cho, Megan T Rosello, Monica Lynch, Sally Ann Colombo, Sophie Weber, Astrid Haug, Marte Heinzen, Erin L Sands, Tristan T Narayanan, Vinodh Primiano, Michelle Aggarwal, Vimla S Millan, Francisca Sattler-Holtrop, Shannon G Caro-Llopis, Alfonso Pillar, Nir Baker, Janice Freedman, Rebecca Kroes, Hester Y Sacharow, Stephanie Stong, Nick Lapunzina, Pablo Schneider, Michael C Mendelsohn, Nancy J Singleton, Amanda Loik Ramey, Valerie Wou, Karen Kuzminsky, Alla Monfort, Sandra Weiss, Monica Doyle, Samantha Iglesias, Alejandro Martinez, Francisco Mckenzie, Fiona Orellana, Carmen van Gassen, Koen L I Palomares, Maria Bazak, Lily Lee, Andy Bircher, Ana Basel-Vanagaite, Lina Hafström, Maria Houge, Gunnar Goldstein, David B Anyane-Yeboa, Kwame Producer: 20190925 In: American journal of medical genetics. Part A vol. 176 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. [electronic resource] by Martin, Carol-Anne Sarlós, Kata Logan, Clare V Thakur, Roshan Singh Parry, David A Bizard, Anna H Leitch, Andrea Cleal, Louise Ali, Nadia Shaukat Al-Owain, Mohammed A Allen, William Altmüller, Janine Aza-Carmona, Miriam Barakat, Bushra A Y Barraza-García, Jimena Begtrup, Amber Bogliolo, Massimo Cho, Megan T Cruz-Rojo, Jaime Dhahrabi, Hassan Ali Mundi Elcioglu, Nursel H Gorman, Gráinne S Jobling, Rebekah Kesterton, Ian Kishita, Yoshihito Kohda, Masakazu Le Quesne Stabej, Polona Malallah, Asam Jassim Nürnberg, Peter Ohtake, Akira Okazaki, Yasushi Pujol, Roser Ramirez, Maria José Revah-Politi, Anya Shimura, Masaru Stevens, Paul Taylor, Robert W Turner, Lesley Williams, Hywel Wilson, Carolyn Yigit, Gökhan Zahavich, Laura Alkuraya, Fowzan S Surralles, Jordi Iglesias, Alejandro Murayama, Kei Wollnik, Bernd Dattani, Mehul Heath, Karen E Hickson, Ian D Jackson, Andrew P Publication details: American journal of human genetics 09 2018 In: American journal of human genetics vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. [electronic resource] by Martin, Carol-Anne Sarlós, Kata Logan, Clare V Thakur, Roshan Singh Parry, David A Bizard, Anna H Leitch, Andrea Cleal, Louise Ali, Nadia Shaukat Al-Owain, Mohammed A Allen, William Altmüller, Janine Aza-Carmona, Miriam Barakat, Bushra A Y Barraza-García, Jimena Begtrup, Amber Bogliolo, Massimo Cho, Megan T Cruz-Rojo, Jaime Dhahrabi, Hassan Ali Mundi Elcioglu, Nursel H Gorman, Gráinne S Jobling, Rebekah Kesterton, Ian Kishita, Yoshihito Kohda, Masakazu Le Quesne Stabej, Polona Malallah, Asam Jassim Nürnberg, Peter Ohtake, Akira Okazaki, Yasushi Pujol, Roser Ramirez, Maria José Revah-Politi, Anya Shimura, Masaru Stevens, Paul Taylor, Robert W Turner, Lesley Williams, Hywel Wilson, Carolyn Yigit, Gökhan Zahavich, Laura Alkuraya, Fowzan S Surralles, Jordi Iglesias, Alejandro Murayama, Kei Wollnik, Bernd Dattani, Mehul Heath, Karen E Hickson, Ian D Jackson, Andrew P Publication details: American journal of human genetics 08 2018 In: American journal of human genetics vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	NBEA: Developmental disease gene with early generalized epilepsy phenotypes. [electronic resource] by Mulhern, Maureen S Stumpel, Constance Stong, Nicholas Brunner, Han G Bier, Louise Lippa, Natalie Riviello, James Rouhl, Rob P W Kempers, Marlies Pfundt, Rolph Stegmann, Alexander P A Kukolich, Mary K Telegrafi, Aida Lehman, Anna Lopez-Rangel, Elena Houcinat, Nada Barth, Magalie den Hollander, Nicolette Hoffer, Mariette J V Weckhuysen, Sarah Roovers, Jolien Djemie, Tania Barca, Diana Ceulemans, Berten Craiu, Dana Lemke, Johannes R Korff, Christian Mefford, Heather C Meyers, Candace T Siegler, Zsuzsanna Hiatt, Susan M Cooper, Gregory M Bebin, E Martina Snijders Blok, Lot Veenstra-Knol, Hermine E Baugh, Evan H Brilstra, Eva H Volker-Touw, Catharina M L van Binsbergen, Ellen Revah-Politi, Anya Pereira, Elaine McBrian, Danielle Pacault, Mathilde Isidor, Bertrand Le Caignec, Cedric Gilbert-Dussardier, Brigitte Bilan, Frederic Heinzen, Erin L Goldstein, David B Stevens, Servi J C Sands, Tristan T Producer: 20190821 In: Annals of neurology vol. 84 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)