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	81.	Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. [electronic resource] by Arikawa-Hirasawa, Eri Le, Alexander H Nishino, Ichizo Nonaka, Ikuya Ho, Nicola C Francomano, Clair A Govindraj, Prasanthi Hassell, John R Devaney, Joseph M Spranger, Jürgen Stevenson, Roger E Iannaccone, Susan Dalakas, Marinos C Yamada, Yoshihiko Producer: 20020523 In: American journal of human genetics vol. 70 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	82.	Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders. [electronic resource] by Srivastava, Siddharth Niranjan, Tejasvi May, Melanie M Tarpey, Patrick Allen, William Hackett, Anna Jouk, Pierre-Simon Raymond, Lucy Briault, Slyvain Skinner, Cindy Toutain, Annick Gecz, Jozef Heath, William Stevenson, Roger E Schwartz, Charles E Wang, Tao Producer: 20190521 In: Molecular genetics & genomic medicine vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	83.	Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene. [electronic resource] by Graham, John M Visootsak, Jeannie Dykens, Elisabeth Huddleston, Lillie Clark, Robin D Jones, Kenneth L Moeschler, John B Opitz, John M Morford, Jackie Simensen, Richard Rogers, R Curtis Schwartz, Charles E Friez, Michael J Stevenson, Roger E Producer: 20081212 In: American journal of medical genetics. Part A vol. 146A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	84.	FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing. [electronic resource] by Clark, Robin Dawn Graham, John M Friez, Michael J Hoo, Joe J Jones, Kenneth Lyons McKeown, Carole Moeschler, John B Raymond, F Lucy Rogers, R Curtis Schwartz, Charles E Battaglia, Agatino Lyons, Michael J Stevenson, Roger E Producer: 20100113 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	85.	A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. [electronic resource] by Risheg, Hiba Graham, John M Clark, Robin D Rogers, R Curtis Opitz, John M Moeschler, John B Peiffer, Andreas P May, Melanie Joseph, Sumy M Jones, Julie R Stevenson, Roger E Schwartz, Charles E Friez, Michael J Producer: 20070606 In: Nature genetics vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	86.	Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. [electronic resource] by Schwartz, Charles E May, Melanie M Carpenter, Nancy J Rogers, R Curtis Martin, Judith Bialer, Martin G Ward, Jewell Sanabria, Javier Marsa, Silvana Lewis, James A Echeverri, Roberto Lubs, Herbert A Voeller, Kytja Simensen, Richard J Stevenson, Roger E Producer: 20050829 In: American journal of human genetics vol. 77 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	87.	Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and Genomics. [electronic resource] by Bieber, Frederick R Cherry, Athena M Emanuel, Beverly S Francke, Uta Hoyme, H Eugene Jackson, Laird G Morton, Cynthia C Muenke, Maximillian Powell, Cynthia M Punnett, Hope H Rao, P Nagesh Schwartz, Stuart Stevenson, Roger E Van Dyke, Daniel L Producer: 20180111 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)
	88.	Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. [electronic resource] by Boccuto, Luigi Lauri, Maria Sarasua, Sara M Skinner, Cindy D Buccella, Daniela Dwivedi, Alka Orteschi, Daniela Collins, Julianne S Zollino, Marcella Visconti, Paola Dupont, Barb Tiziano, Danilo Schroer, Richard J Neri, Giovanni Stevenson, Roger E Gurrieri, Fiorella Schwartz, Charles E Producer: 20130920 In: European journal of human genetics : EJHG vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	89.	Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound. [electronic resource] by Louie, Raymond J Tan, Queenie K-G Gilner, Jennifer B Rogers, R Curtis Younge, Noelle Wechsler, Stephanie B McDonald, Marie T Gordon, Barbara Saski, Christopher A Jones, Julie R Chapman, Shelley J Stevenson, Roger E Sleasman, John W Friez, Michael J Producer: 20170508 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)
	90.	MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression. [electronic resource] by Donnio, Lise-Marie Bidon, Baptiste Hashimoto, Satoru May, Melanie Epanchintsev, Alexey Ryan, Colm Allen, William Hackett, Anna Gecz, Jozef Skinner, Cindy Stevenson, Roger E de Brouwer, Arjan P M Coutton, Charles Francannet, Christine Jouk, Pierre-Simon Schwartz, Charles E Egly, Jean-Marc Producer: 20171017 In: Human molecular genetics vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	91.	New observation of sialuria prompts detection of liver tumor in previously reported patient. [electronic resource] by Champaigne, Neena L Leroy, Jules G Kishnani, Priya S Decaestecker, Jochen Steenkiste, Edwin Chaubey, Alka Li, Jiarui Verslype, Chris Van Dorpe, Jo Pollard, Laura Goldstein, Jennifer L Libbrecht, Louis Basehore, Monica Chen, Nansheng Hu, Heping Wood, Tim Friez, Michael J Huizing, Marjan Stevenson, Roger E Producer: 20180119 In: Molecular genetics and metabolism vol. 118 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	92.	Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. [electronic resource] by Bauters, Marijke Van Esch, Hilde Friez, Michael J Boespflug-Tanguy, Odile Zenker, Martin Vianna-Morgante, Angela M Rosenberg, Carla Ignatius, Jaakko Raynaud, Martine Hollanders, Karen Govaerts, Karen Vandenreijt, Kris Niel, Florence Blanc, Pierre Stevenson, Roger E Fryns, Jean-Pierre Marynen, Peter Schwartz, Charles E Froyen, Guy Producer: 20080731 In: Genome research vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	93.	Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders. [electronic resource] by Celestino-Soper, Patrícia Bs Skinner, Cindy Schroer, Richard Eng, Patricia Shenai, Jayant Nowaczyk, Malgorzata Mj Terespolsky, Deborah Cushing, Donna Patel, Gayle S Immken, Ladonna Willis, Alecia Wiszniewska, Joanna Matalon, Reuben Rosenfeld, Jill A Stevenson, Roger E Kang, Sung-Hae L Cheung, Sau Wai Beaudet, Arthur L Stankiewicz, Pawel Producer: 20121002 In: Molecular cytogenetics vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	94.	Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. [electronic resource] by Bronicki, Lucas M Redin, Claire Drunat, Severine Piton, Amélie Lyons, Michael Passemard, Sandrine Baumann, Clarisse Faivre, Laurence Thevenon, Julien Rivière, Jean-Baptiste Isidor, Bertrand Gan, Grace Francannet, Christine Willems, Marjolaine Gunel, Murat Jones, Julie R Gleeson, Joseph G Mandel, Jean-Louis Stevenson, Roger E Friez, Michael J Aylsworth, Arthur S Producer: 20160506 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)
	95.	Clinical utility of the X-chromosome array. [electronic resource] by Zarate, Yuri A Dwivedi, Alka Bartel, Frank O Bellomo, M Allison Cathey, Sara S Champaigne, Neena L Clarkson, L Kate Dupont, Barbara R Everman, David B Geer, Joseph S Gordon, Barbara C Lichty, Angie W Lyons, Michael J Rogers, R Curtis Saul, Robert A Schroer, Richard J Skinner, Steven A Stevenson, Roger E Producer: 20130619 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)
	96.	CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. [electronic resource] by Hackett, Anna Tarpey, Patrick S Licata, Andrea Cox, James Whibley, Annabel Boyle, Jackie Rogers, Carolyn Grigg, John Partington, Michael Stevenson, Roger E Tolmie, John Yates, John Rw Turner, Gillian Wilson, Meredith Futreal, Andrew P Corbett, Mark Shaw, Marie Gecz, Jozef Raymond, F Lucy Stratton, Michael R Schwartz, Charles E Abidi, Fatima E Producer: 20100715 In: European journal of human genetics : EJHG vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	97.	The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. [electronic resource] by Schwartz, Charles E Tarpey, Patrick S Lubs, Herbert A Verloes, Alain May, Melanie M Risheg, Hiba Friez, Michael J Futreal, P Andrew Edkins, Sarah Teague, Jon Briault, Sylvain Skinner, Cindy Bauer-Carlin, Astrid Simensen, Richard J Joseph, Sumy M Jones, Julie R Gecz, Josef Stratton, Michael R Raymond, F Lucy Stevenson, Roger E Producer: 20080306 In: Journal of medical genetics vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	98.	Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. [electronic resource] by Shoubridge, Cheryl Tarpey, Patrick S Abidi, Fatima Ramsden, Sarah L Rujirabanjerd, Sinitdhorn Murphy, Jessica A Boyle, Jackie Shaw, Marie Gardner, Alison Proos, Anne Puusepp, Helen Raymond, F Lucy Schwartz, Charles E Stevenson, Roger E Turner, Gill Field, Michael Walikonis, Randall S Harvey, Robert J Hackett, Anna Futreal, P Andrew Stratton, Michael R Gécz, Jozef Producer: 20100617 In: Nature genetics vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	99.	A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. [electronic resource] by de Mollerat, Xavier J Gurrieri, Fiorella Morgan, Chad T Sangiorgi, Eugenio Everman, David B Gaspari, Paola Amiel, Jeanne Bamshad, Michael J Lyle, Robert Blouin, Jean-Louis Allanson, Judith E Le Marec, Bernard Wilson, Melba Braverman, Nancy E Radhakrishna, Uppala Delozier-Blanchet, Celia Abbott, Albert Elghouzzi, Vincent Antonarakis, Stylianos Stevenson, Roger E Munnich, Arnold Neri, Giovanni Schwartz, Charles E Producer: 20040520 In: Human molecular genetics vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	100.	Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability. [electronic resource] by Whibley, Annabel C Plagnol, Vincent Tarpey, Patrick S Abidi, Fatima Fullston, Tod Choma, Maja K Boucher, Catherine A Shepherd, Lorraine Willatt, Lionel Parkin, Georgina Smith, Raffaella Futreal, P Andrew Shaw, Marie Boyle, Jackie Licata, Andrea Skinner, Cindy Stevenson, Roger E Turner, Gillian Field, Michael Hackett, Anna Schwartz, Charles E Gecz, Jozef Stratton, Michael R Raymond, F Lucy Producer: 20100901 In: American journal of human genetics vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 117 results.