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	241.	Control of Development, Secondary Metabolism and Light-Dependent Carotenoid Biosynthesis by the Velvet Complex of [electronic resource] by Bayram, Özlem Sarikaya Dettmann, Anne Karahoda, Betim Moloney, Nicola M Ormsby, Tereza McGowan, Jamie Cea-Sánchez, Sara Miralles-Durán, Alejandro Brancini, Guilherme T P Luque, Eva M Fitzpatrick, David A Cánovas, David Corrochano, Luis M Doyle, Sean Selker, Eric U Seiler, Stephan Bayram, Özgür Producer: 20200113 In: Genetics vol. 212 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	242.	Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data. [electronic resource] by Aitken, Stuart Firth, Helen V McRae, Jeremy Halachev, Mihail Kini, Usha Parker, Michael J Lees, Melissa M Lachlan, Katherine Sarkar, Ajoy Joss, Shelagh Splitt, Miranda McKee, Shane Németh, Andrea H Scott, Richard H Wright, Caroline F Marsh, Joseph A Hurles, Matthew E FitzPatrick, David R Producer: 20200331 In: American journal of human genetics vol. 105 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	243.	Medical sequencing of candidate genes for nonsyndromic cleft lip and palate. [electronic resource] by Vieira, Alexandre R Avila, Joseph R Daack-Hirsch, Sandra Dragan, Ecaterina Félix, Têmis M Rahimov, Fedik Harrington, Jill Schultz, Rebecca R Watanabe, Yoriko Johnson, Marla Fang, Jennifer O'Brien, Sarah E Orioli, Iêda M Castilla, Eduardo E Fitzpatrick, David R Jiang, Rulang Marazita, Mary L Murray, Jeffrey C Producer: 20060731 In: PLoS genetics vol. 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	244.	3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome. [electronic resource] by Willatt, Lionel Cox, James Barber, John Cabanas, Elisabet Dachs Collins, Amanda Donnai, Dian FitzPatrick, David R Maher, Eddy Martin, Howard Parnau, Josep Pindar, Lesley Ramsay, Jacqueline Shaw-Smith, Charles Sistermans, Erik A Tettenborn, Michael Trump, Dorothy de Vries, Bert B A Walker, Kate Raymond, F Lucy 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)
	245.	Contribution of retrotransposition to developmental disorders. [electronic resource] by Gardner, Eugene J Prigmore, Elena Gallone, Giuseppe Danecek, Petr Samocha, Kaitlin E Handsaker, Juliet Gerety, Sebastian S Ironfield, Holly Short, Patrick J Sifrim, Alejandro Singh, Tarjinder Chandler, Kate E Clement, Emma Lachlan, Katherine L Prescott, Katrina Rosser, Elisabeth FitzPatrick, David R Firth, Helen V Hurles, Matthew E Producer: 20200204 In: Nature communications vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	246.	Fine tuning of craniofacial morphology by distant-acting enhancers. [electronic resource] by Attanasio, Catia Nord, Alex S Zhu, Yiwen Blow, Matthew J Li, Zirong Liberton, Denise K Morrison, Harris Plajzer-Frick, Ingrid Holt, Amy Hosseini, Roya Phouanenavong, Sengthavy Akiyama, Jennifer A Shoukry, Malak Afzal, Veena Rubin, Edward M FitzPatrick, David R Ren, Bing Hallgrímsson, Benedikt Pennacchio, Len A Visel, Axel Producer: 20131105 In: Science (New York, N.Y.) vol. 342 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	247.	Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. [electronic resource] by Snape, Katie Hanks, Sandra Ruark, Elise Barros-Núñez, Patricio Elliott, Anna Murray, Anne Lane, Andrew H Shannon, Nora Callier, Patrick Chitayat, David Clayton-Smith, Jill Fitzpatrick, David R Gisselsson, David Jacquemont, Sebastien Asakura-Hay, Keiko Micale, Mark A Tolmie, John Turnpenny, Peter D Wright, Michael Douglas, Jenny Rahman, Nazneen Producer: 20110726 In: Nature genetics vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	248.	Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH. [electronic resource] by Rainger, Joe Bengani, Hemant Campbell, Leigh Anderson, Eve Sokhi, Kishan Lam, Wayne Riess, Angelika Ansari, Morad Smithson, Sarah Lees, Melissa Mercer, Catherine McKenzie, Kathryn Lengfeld, Tobias Gener Querol, Blanca Branney, Peter McKay, Stewart Morrison, Harris Medina, Bethan Robertson, Morag Kohlhase, Jürgen Gordon, Colin Kirk, Jean Wieczorek, Dagmar Fitzpatrick, David R Producer: 20130117 In: Human molecular genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	249.	Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome. [electronic resource] by Telegrafi, Aida Webb, Bryn D Robbins, Sarah M Speck-Martins, Carlos E FitzPatrick, David Fleming, Leah Redett, Richard Dufke, Andreas Houge, Gunnar van Harssel, Jeske J T Verloes, Alain Robles, Angela Manoli, Irini Engle, Elizabeth C Jabs, Ethylin W Valle, David Carey, John Hoover-Fong, Julie E Sobreira, Nara L M Producer: 20180207 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)
	250.	Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype. [electronic resource] by Allanson, Judith Smith, Amanda Hare, Heather Albrecht, Beate Bijlsma, Emilia Dallapiccola, Bruno Donti, Emilio Fitzpatrick, David Isidor, Bertrand Lachlan, Katherine Le Caignec, Cedric Prontera, Paolo Raas-Rothschild, Annick Rogaia, Daniela van Bon, Bregje Aradhya, Swaroop Crocker, Susan F Jarinova, Olga McGowan-Jordan, Jean Boycott, Kym Bulman, Dennis Fagerberg, Christina Ringmann 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)
	251.	ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy. [electronic resource] by Handley, Mark T Reddy, Kaalak Wills, Jimi Rosser, Elisabeth Kamath, Archith Halachev, Mihail Falkous, Gavin Williams, Denise Cox, Phillip Meynert, Alison Raymond, Eleanor S Morrison, Harris Brown, Stephen Allan, Emma Aligianis, Irene Jackson, Andrew P Ramsahoye, Bernard H von Kriegsheim, Alex Taylor, Robert W Finch, Andrew J FitzPatrick, David R Producer: 20190916 In: PLoS genetics vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	252.	Long-range evolutionary constraints reveal cis-regulatory interactions on the human X chromosome. [electronic resource] by Naville, Magali Ishibashi, Minaka Ferg, Marco Bengani, Hemant Rinkwitz, Silke Krecsmarik, Monika Hawkins, Thomas A Wilson, Stephen W Manning, Elizabeth Chilamakuri, Chandra S R Wilson, David I Louis, Alexandra Lucy Raymond, F Rastegar, Sepand Strähle, Uwe Lenhard, Boris Bally-Cuif, Laure van Heyningen, Veronica FitzPatrick, David R Becker, Thomas S Roest Crollius, Hugues Producer: 20160405 In: Nature communications vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	253.	Clinical and molecular genetic features of ARC syndrome. [electronic resource] by Gissen, Paul Tee, Louise Johnson, Colin A Genin, Emmanuelle Caliebe, Almuth Chitayat, David Clericuzio, Carol Denecke, Jonas Di Rocco, Maja Fischler, Björn FitzPatrick, David García-Cazorla, Angeles Guyot, Delphine Jacquemont, Sebastien Koletzko, Sibylle Leheup, Bruno Mandel, Hanna Sanseverino, Maria Teresa Vieira Houwen, Roderick H J McKiernan, Patrick J Kelly, Deirdre A Maher, Eamonn R Producer: 20070427 In: Human genetics vol. 120 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	254.	None [electronic resource] by Johnston, Jennifer J Williamson, Kathleen A Chou, Christopher M Sapp, Julie C Ansari, Morad Chapman, Heather M Cooper, David N Dabir, Tabib Dudley, Jeffrey N Holt, Richard J Ragge, Nicola K Schäffer, Alejandro A Sen, Shurjo K Slavotinek, Anne M FitzPatrick, David R Glaser, Thomas M Stewart, Fiona Black, Graeme Cm Biesecker, Leslie G Producer: 20200603 In: Journal of medical genetics vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	255.	Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. [electronic resource] by Pasutto, Francesca Sticht, Heinrich Hammersen, Gerhard Gillessen-Kaesbach, Gabriele Fitzpatrick, David R Nürnberg, Gudrun Brasch, Frank Schirmer-Zimmermann, Heidemarie Tolmie, John L Chitayat, David Houge, Gunnar Fernández-Martínez, Lorena Keating, Sarah Mortier, Geert Hennekam, Raoul C M von der Wense, Axel Slavotinek, Anne Meinecke, Peter Bitoun, Pierre Becker, Christian Nürnberg, Peter Reis, André Rauch, Anita Producer: 20070405 In: American journal of human genetics vol. 80 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	256.	Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. [electronic resource] by Southgate, Laura Machado, Rajiv D Snape, Katie M Primeau, Martin Dafou, Dimitra Ruddy, Deborah M Branney, Peter A Fisher, Malcolm Lee, Grace J Simpson, Michael A He, Yi Bradshaw, Teisha Y Blaumeiser, Bettina Winship, William S Reardon, Willie Maher, Eamonn R FitzPatrick, David R Wuyts, Wim Zenker, Martin Lamarche-Vane, Nathalie Trembath, Richard C Producer: 20110815 In: American journal of human genetics vol. 88 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	257.	The clinical significance of small copy number variants in neurodevelopmental disorders. [electronic resource] by Asadollahi, Reza Oneda, Beatrice Joset, Pascal Azzarello-Burri, Silvia Bartholdi, Deborah Steindl, Katharina Vincent, Marie Cobilanschi, Joana Sticht, Heinrich Baldinger, Rosa Reissmann, Regina Sudholt, Irene Thiel, Christian T Ekici, Arif B Reis, André Bijlsma, Emilia K Andrieux, Joris Dieux, Anne FitzPatrick, David Ritter, Susanne Baumer, Alessandra Latal, Beatrice Plecko, Barbara Jenni, Oskar G Rauch, Anita Producer: 20150518 In: Journal of medical genetics vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	258.	Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study. [electronic resource] by Männikkö, Roope Wong, Leonie Tester, David J Thor, Michael G Sud, Richa Kullmann, Dimitri M Sweeney, Mary G Leu, Costin Sisodiya, Sanjay M FitzPatrick, David R Evans, Margaret J Jeffrey, Iona J M Tfelt-Hansen, Jacob Cohen, Marta C Fleming, Peter J Jaye, Amie Simpson, Michael A Ackerman, Michael J Hanna, Michael G Behr, Elijah R Matthews, Emma Producer: 20181015 In: Lancet (London, England) vol. 391 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	259.	Publisher Correction: Stability, affinity, and chromatic variants of the glutamate sensor iGluSnFR. [electronic resource] by Marvin, Jonathan S Scholl, Benjamin Wilson, Daniel E Podgorski, Kaspar Kazemipour, Abbas Müller, Johannes Alexander Schoch, Susanne Urra Quiroz, Francisco José Rebola, Nelson Bao, Huan Little, Justin P Tkachuk, Ariana N Cai, Edward Hantman, Adam W Wang, Samuel S-H DePiero, Victor J Borghuis, Bart G Chapman, Edwin R Dietrich, Dirk DiGregorio, David A Fitzpatrick, David Looger, Loren L Publication details: Nature methods Feb 2019 In: Nature methods vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	260.	Heterozygous mutations of OTX2 cause severe ocular malformations. [electronic resource] by Ragge, Nicola K Brown, Alison G Poloschek, Charlotte M Lorenz, Birgit Henderson, R Alex Clarke, Michael P Russell-Eggitt, Isabelle Fielder, Alistair Gerrelli, Dianne Martinez-Barbera, Juan Pedro Ruddle, Piers Hurst, Jane Collin, J Richard O Salt, Alison Cooper, Simon T Thompson, Pamela J Sisodiya, Sanjay M Williamson, Kathleen A Fitzpatrick, David R van Heyningen, Veronica Hanson, Isabel M Producer: 20050708 In: American journal of human genetics vol. 76 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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