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	201.	Esrrg functions in early branch generation of the ureteric bud and is essential for normal development of the renal papilla. [electronic resource] by Berry, Rachel Harewood, Louise Pei, Liming Fisher, Malcolm Brownstein, David Ross, Allyson Alaynick, William A Moss, Julie Hastie, Nicholas D Hohenstein, Peter Davies, Jamie A Evans, Ronald M FitzPatrick, David R Producer: 20110524 In: Human molecular genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	202.	Video-rate volumetric functional imaging of the brain at synaptic resolution. [electronic resource] by Lu, Rongwen Sun, Wenzhi Liang, Yajie Kerlin, Aaron Bierfeld, Jens Seelig, Johannes D Wilson, Daniel E Scholl, Benjamin Mohar, Boaz Tanimoto, Masashi Koyama, Minoru Fitzpatrick, David Orger, Michael B Ji, Na Producer: 20170822 In: Nature neuroscience vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	203.	Mutations in SOX2 cause anophthalmia. [electronic resource] by Fantes, Judy Ragge, Nicola K Lynch, Sally-Ann McGill, Niolette I Collin, J Richard O Howard-Peebles, Patricia N Hayward, Caroline Vivian, Anthony J Williamson, Kathy van Heyningen, Veronica FitzPatrick, David R Producer: 20030516 In: Nature genetics vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	204.	Identification of SATB2 as the cleft palate gene on 2q32-q33. [electronic resource] by FitzPatrick, David R Carr, Ian M McLaren, Lorna Leek, Jack P Wightman, Patrick Williamson, Kathy Gautier, Philippe McGill, Niolette Hayward, Caroline Firth, Helen Markham, Alex F Fantes, Judy A Bonthron, David T Producer: 20040519 In: Human molecular genetics vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	205.	Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas. [electronic resource] by Smith, Miriam J O'Sullivan, James Bhaskar, Sanjeev S Hadfield, Kristen D Poke, Gemma Caird, John Sharif, Saba Eccles, Diana Fitzpatrick, David Rawluk, Daniel du Plessis, Daniel Newman, William G Evans, D Gareth Producer: 20130530 In: Nature genetics vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	206.	Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. [electronic resource] by Kharbanda, Mira Pilz, Daniela T Tomkins, Susan Chandler, Kate Saggar, Anand Fryer, Alan McKay, Victoria Louro, Pedro Smith, Jill Clayton Burn, John Kini, Usha De Burca, Anna FitzPatrick, David R Kinning, Esther Producer: 20170210 In: European journal of medical genetics vol. 60 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	207.	Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B. [electronic resource] by Hanks, Sandra Coleman, Kim Reid, Sarah Plaja, Alberto Firth, Helen Fitzpatrick, David Kidd, Alexa Méhes, Károly Nash, Richard Robin, Nathanial Shannon, Nora Tolmie, John Swansbury, John Irrthum, Alexandre Douglas, Jenny Rahman, Nazneen Producer: 20041207 In: Nature genetics vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	208.	Human-specific gain of function in a developmental enhancer. [electronic resource] by Prabhakar, Shyam Visel, Axel Akiyama, Jennifer A Shoukry, Malak Lewis, Keith D Holt, Amy Plajzer-Frick, Ingrid Morrison, Harris Fitzpatrick, David R Afzal, Veena Pennacchio, Len A Rubin, Edward M Noonan, James P Producer: 20080909 In: Science (New York, N.Y.) vol. 321 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	209.	Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother. [electronic resource] by Faivre, Laurence Williamson, Kathleen A Faber, Valérie Laurent, Nicole Grimaldi, Marianne Thauvin-Robinet, Christel Durand, Christine Mugneret, Francine Gouyon, Jean-Bernard Bron, Alain Huet, Frédéric Hayward, Caroline Heyningen, Veronica van Fitzpatrick, David R Producer: 20060530 In: American journal of medical genetics. Part A vol. 140 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	210.	Role of SOX2 mutations in human hippocampal malformations and epilepsy. [electronic resource] by Sisodiya, Sanjay M Ragge, Nicola K Cavalleri, Gianpiero L Hever, Ann Lorenz, Birgit Schneider, Adele Williamson, Kathleen A Stevens, John M Free, Samantha L Thompson, Pamela J van Heyningen, Veronica Fitzpatrick, David R Producer: 20060510 In: Epilepsia vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	211.	Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes. [electronic resource] by Snijders Blok, Charlotte Corsten-Janssen, Nicole FitzPatrick, David R Romano, Corrado Fichera, Marco Vitello, Girolamo Aurelio Willemsen, Marjolein H Schoots, Jeroen Pfundt, Rolph van Ravenswaaij-Arts, Conny M A Hoefsloot, Lies Kleefstra, Tjitske Producer: 20160516 In: American journal of medical genetics. Part A vol. 164A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	212.	Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. [electronic resource] by Verhoeven, Kristien De Jonghe, Peter Coen, Katrien Verpoorten, Nathalie Auer-Grumbach, Michaela Kwon, Jennifer M FitzPatrick, David Schmedding, Eric De Vriendt, Els Jacobs, An Van Gerwen, Veerle Wagner, Klaus Hartung, Hans-Peter Timmerman, Vincent Producer: 20030424 In: American journal of human genetics vol. 72 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	213.	A trans-acting protein effect causes severe eye malformation in the Mp mouse. [electronic resource] by Rainger, Joe Keighren, Margaret Keene, Douglas R Charbonneau, Noe L Rainger, Jacqueline K Fisher, Malcolm Mella, Sebastien Huang, Jeffrey T-J Rose, Lorraine van't Hof, Rob Sakai, Lynne Y Jackson, Ian J Fitzpatrick, David R Producer: 20140820 In: PLoS genetics vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	214.	Clinical utility gene card for: Cornelia de Lange syndrome. [electronic resource] by Ramos, Feliciano J Puisac, Beatriz Baquero-Montoya, Carolina Gil-Rodríguez, Ma Concepción Bueno, Inés Deardorff, Matthew A Hennekam, Raoul C Kaiser, Frank J Krantz, Ian D Musio, Antonio Selicorni, Angelo FitzPatrick, David R Pié, Juan Producer: 20160615 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)
	215.	Out-of-hospital cardiac arrest survival in international airports. [electronic resource] by Masterson, Siobhán McNally, Bryan Cullinan, John Vellano, Kimberly Escutnaire, Joséphine Fitzpatrick, David Perkins, Gavin D Koster, Rudolph W Nakajima, Yuko Pemberton, Katherine Quinn, Martin Smith, Karen Jónsson, Bergþór Steinn Strömsöe, Anneli Tandan, Meera Vellinga, Akke Producer: 20181218 In: Resuscitation vol. 127 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	216.	Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. [electronic resource] by Boland, Elena Clayton-Smith, Jill Woo, Victoria G McKee, Shane Manson, Forbes D C Medne, Livija Zackai, Elaine Swanson, Eric A Fitzpatrick, David Millen, Kathleen J Sherr, Elliott H Dobyns, William B Black, Graeme C M Producer: 20070921 In: American journal of human genetics vol. 81 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	217.	A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX. [electronic resource] by Ansari, Morad Rainger, Jacqueline K Murray, Jennie E Hanson, Isabel Firth, Helen V Mehendale, Felicity Amiel, Jeanne Gordon, Christopher T Percesepe, Antonio Mazzanti, Laura Fryer, Alan Ferrari, Paola Devriendt, Koenraad Temple, I Karen FitzPatrick, David R Producer: 20150612 In: European journal of medical genetics vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	218.	Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome. [electronic resource] by Olley, Gabrielle Ansari, Morad Bengani, Hemant Grimes, Graeme R Rhodes, James von Kriegsheim, Alex Blatnik, Ana Stewart, Fiona J Wakeling, Emma Carroll, Nicola Ross, Alison Park, Soo-Mi Bickmore, Wendy A Pradeepa, Madapura M FitzPatrick, David R Publication details: Nature genetics 05 2018 In: Nature genetics vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	219.	Managing clinically significant findings in research: the UK10K example. [electronic resource] by Kaye, Jane Hurles, Matthew Griffin, Heather Grewal, Jasote Bobrow, Martin Timpson, Nic Smee, Carol Bolton, Patrick Durbin, Richard Dyke, Stephanie Fitzpatrick, David Kennedy, Karen Kent, Alastair Muddyman, Dawn Muntoni, Francesco Raymond, Lucy F Semple, Robert Spector, Tim Producer: 20150413 In: European journal of human genetics : EJHG vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	220.	De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability. [electronic resource] by Parker, Michael J Fryer, Alan E Shears, Deborah J Lachlan, Katherine L McKee, Shane A Magee, Alex C Mohammed, Shehla Vasudevan, Pradeep C Park, Soo-Mi Benoit, Valérie Lederer, Damien Maystadt, Isabelle Study, Ddd FitzPatrick, David R Producer: 20160614 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)

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