Your search returned 22 results.

Results
	1.	Inhibition of long-term potentiation by valproic acid through modulation of cyclic AMP. [electronic resource] by Chang, Pishan Chandler, Kate E Williams, Robin S B Walker, Matthew C Producer: 20101022 In: Epilepsia vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Cerebellar hypoplasia and Cohen syndrome: a confirmed association. [electronic resource] by Waite, Alexander Somer, Mirja O'Driscoll, Mary Millen, Kathleen Manson, Forbes D C Chandler, Kate E Producer: 20101215 In: American journal of medical genetics. Part A vol. 152A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	The efficacy and tolerability of levetiracetam in pharmacoresistant epileptic dogs. [electronic resource] by Volk, Holger A Matiasek, Lara A Luján Feliu-Pascual, Alejandro Platt, Simon R Chandler, Kate E Producer: 20080710 In: Veterinary journal (London, England : 1997) vol. 176 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region. [electronic resource] by Briggs, Tracy A Lokulo-Sodipe, Kemi Chandler, Kate E Mackay, Deborah J G Temple, I Karen Producer: 20161019 In: American journal of medical genetics. Part A vol. 170A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Plasticity of GABA(B) receptor-mediated heterosynaptic interactions at mossy fibers after status epilepticus. [electronic resource] by Chandler, Kate E Princivalle, Alessandra P Fabian-Fine, Ruth Bowery, Norman G Kullmann, Dimitri M Walker, Matthew C Producer: 20040116 In: The Journal of neuroscience : the official journal of the Society for Neuroscience vol. 23 Availability: No items available. Save to lists Add to cart (remove)
	6.	De novo mutations in HNRNPU result in a neurodevelopmental syndrome. [electronic resource] by Yates, T Michael Vasudevan, Pradeep C Chandler, Kate E Donnelly, Deirdre E Stark, Zornitza Sadedin, Simon Willoughby, Josh Balasubramanian, Meena Producer: 20180605 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)
	7.	Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders. [electronic resource] by de Goede, Christian Yue, Wyatt W Yan, Guanhua Ariyaratnam, Shyamala Chandler, Kate E Downes, Laura Khan, Nasaim Mohan, Meyyammai Lowe, Martin Banka, Siddharth Producer: 20160926 In: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	CRTAP mutation in a patient with Cole-Carpenter syndrome. [electronic resource] by Balasubramanian, Meena Pollitt, Rebecca C Chandler, Kate E Mughal, M Z Parker, Michael J Dalton, Ann Arundel, Paul Offiah, Amaka C Bishop, Nicholas J Producer: 20160429 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)
	9.	FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum. [electronic resource] by Reuter, Miriam S Riess, Angelika Moog, Ute Briggs, Tracy A Chandler, Kate E Rauch, Anita Stampfer, Miriam Steindl, Katharina Gläser, Dieter Joset, Pascal Krumbiegel, Mandy Rabe, Harald Schulte-Mattler, Uta Bauer, Peter Beck-Wödl, Stefanie Kohlhase, Jürgen Reis, André Zweier, Christiane Producer: 20171101 In: Journal of medical genetics vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	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)
	11.	Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations. [electronic resource] by Banka, Siddharth de Goede, Christian Yue, Wyatt W Morris, Andrew A M von Bremen, Beate Chandler, Kate E Feichtinger, René G Hart, Claire Khan, Nasaim Lunzer, Verena Mataković, Lavinija Marquardt, Thorsten Makowski, Christine Prokisch, Holger Debus, Otfried Nosaka, Kazuto Sonwalkar, Hemant Zimmermann, Franz A Sperl, Wolfgang Mayr, Johannes A Producer: 20150716 In: Molecular genetics and metabolism vol. 113 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. [electronic resource] by Clayton-Smith, Jill O'Sullivan, James Daly, Sarah Bhaskar, Sanjeev Day, Ruth Anderson, Beverley Voss, Anne K Thomas, Tim Biesecker, Leslie G Smith, Philip Fryer, Alan Chandler, Kate E Kerr, Bronwyn Tassabehji, May Lynch, Sally-Ann Krajewska-Walasek, Malgorzata McKee, Shane Smith, Janine Sweeney, Elizabeth Mansour, Sahar Mohammed, Shehla Donnai, Dian Black, Graeme Producer: 20120221 In: American journal of human genetics vol. 89 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. [electronic resource] by Burkitt Wright, Emma M M Spencer, Helen L Daly, Sarah B Manson, Forbes D C Zeef, Leo A H Urquhart, Jill Zoppi, Nicoletta Bonshek, Richard Tosounidis, Ioannis Mohan, Meyyammai Madden, Colm Dodds, Annabel Chandler, Kate E Banka, Siddharth Au, Leon Clayton-Smith, Jill Khan, Naz Biesecker, Leslie G Wilson, Meredith Rohrbach, Marianne Colombi, Marina Giunta, Cecilia Black, Graeme C M Producer: 20110817 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)
	14.	Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. [electronic resource] by Ratbi, Ilham Falkenberg, Kim D Sommen, Manou Al-Sheqaih, Nada Guaoua, Soukaina Vandeweyer, Geert Urquhart, Jill E Chandler, Kate E Williams, Simon G Roberts, Neil A El Alloussi, Mustapha Black, Graeme C Ferdinandusse, Sacha Ramdi, Hind Heimler, Audrey Fryer, Alan Lynch, Sally-Ann Cooper, Nicola Ong, Kai Ren Smith, Claire E L Inglehearn, Christopher F Mighell, Alan J Elcock, Claire Poulter, James A Tischkowitz, Marc Davies, Sally J Sefiani, Abdelaziz Mironov, Aleksandr A Newman, William G Waterham, Hans R Van Camp, Guy Producer: 20160105 In: American journal of human genetics vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. [electronic resource] by Keppler-Noreuil, Kim M Sapp, Julie C Lindhurst, Marjorie J Parker, Victoria E R Blumhorst, Cathy Darling, Thomas Tosi, Laura L Huson, Susan M Whitehouse, Richard W Jakkula, Eveliina Grant, Ian Balasubramanian, Meena Chandler, Kate E Fraser, Jamie L Gucev, Zoran Crow, Yanick J Brennan, Leslie Manace Clark, Robin Sellars, Elizabeth A Pena, Loren D M Krishnamurty, Vidya Shuen, Andrew Braverman, Nancy Cunningham, Michael L Sutton, V Reid Tasic, Velibor Graham, John M Geer, Joseph Henderson, Alex Semple, Robert K Biesecker, Leslie G Producer: 20150818 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)
	16.	ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder. [electronic resource] by Cuvertino, Sara Stuart, Helen M Chandler, Kate E Roberts, Neil A Armstrong, Ruth Bernardini, Laura Bhaskar, Sanjeev Callewaert, Bert Clayton-Smith, Jill Davalillo, Cristina Hernando Deshpande, Charu Devriendt, Koenraad Digilio, Maria C Dixit, Abhijit Edwards, Matthew Friedman, Jan M Gonzalez-Meneses, Antonio Joss, Shelagh Kerr, Bronwyn Lampe, Anne Katrin Langlois, Sylvie Lennon, Rachel Loget, Philippe Ma, David Y T McGowan, Ruth Des Medt, Maryse O'Sullivan, James Odent, Sylvie Parker, Michael J Pebrel-Richard, Céline Petit, Florence Stark, Zornitza Stockler-Ipsiroglu, Sylvia Tinschert, Sigrid Vasudevan, Pradeep Villa, Olaya White, Susan M Zahir, Farah R Woolf, Adrian S Banka, Siddharth Producer: 20180102 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)
	17.	Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. [electronic resource] by Crow, Yanick J Leitch, Andrea Hayward, Bruce E Garner, Anna Parmar, Rekha Griffith, Elen Ali, Manir Semple, Colin Aicardi, Jean Babul-Hirji, Riyana Baumann, Clarisse Baxter, Peter Bertini, Enrico Chandler, Kate E Chitayat, David Cau, Daniel Déry, Catherine Fazzi, Elisa Goizet, Cyril King, Mary D Klepper, Joerg Lacombe, Didier Lanzi, Giovanni Lyall, Hermione Martínez-Frías, María Luisa Mathieu, Michèle McKeown, Carole Monier, Anne Oade, Yvette Quarrell, Oliver W Rittey, Christopher D Rogers, R Curtis Sanchis, Amparo Stephenson, John B P Tacke, Uta Till, Marianne Tolmie, John L Tomlin, Pam Voit, Thomas Weschke, Bernhard Woods, C Geoffrey Lebon, Pierre Bonthron, David T Ponting, Chris P Jackson, Andrew P Producer: 20060911 In: Nature genetics vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. [electronic resource] by Lord, Jenny McMullan, Dominic J Eberhardt, Ruth Y Rinck, Gabriele Hamilton, Susan J Quinlan-Jones, Elizabeth Prigmore, Elena Keelagher, Rebecca Best, Sunayna K Carey, Georgina K Mellis, Rhiannon Robart, Sarah Berry, Ian R Chandler, Kate E Cilliers, Deirdre Cresswell, Lara Edwards, Sandra L Gardiner, Carol Henderson, Alex Holden, Simon T Homfray, Tessa Lester, Tracy Lewis, Rebecca A Newbury-Ecob, Ruth Prescott, Katrina Quarrell, Oliver W Ramsden, Simon C Roberts, Eileen Tapon, Dagmar Tooley, Madeleine J Vasudevan, Pradeep C Weber, Astrid P Wellesley, Diana G Westwood, Paul White, Helen Parker, Michael Williams, Denise Jenkins, Lucy Scott, Richard H Kilby, Mark D Chitty, Lyn S Hurles, Matthew E Maher, Eamonn R Producer: 20190418 In: Lancet (London, England) vol. 393 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. [electronic resource] by Reijnders, Margot R F Janowski, Robert Alvi, Mohsan Self, Jay E van Essen, Ton J Vreeburg, Maaike Rouhl, Rob P W Stevens, Servi J C Stegmann, Alexander P A Schieving, Jolanda Pfundt, Rolph van Dijk, Katinke Smeets, Eric Stumpel, Connie T R M Bok, Levinus A Cobben, Jan Maarten Engelen, Marc Mansour, Sahar Whiteford, Margo Chandler, Kate E Douzgou, Sofia Cooper, Nicola S Tan, Ene-Choo Foo, Roger Lai, Angeline H M Rankin, Julia Green, Andrew Lönnqvist, Tuula Isohanni, Pirjo Williams, Shelley Ruhoy, Ilene Carvalho, Karen S Dowling, James J Lev, Dorit L Sterbova, Katalin Lassuthova, Petra Neupauerová, Jana Waugh, Jeff L Keros, Sotirios Clayton-Smith, Jill Smithson, Sarah F Brunner, Han G van Hoeckel, Ceciel Anderson, Mel Clowes, Virginia E Siu, Victoria Mok Ddd Study, The Selber, Paulo Leventer, Richard J Nellaker, Christoffer Niessing, Dierk Hunt, David Baralle, Diana Producer: 20190910 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)
	20.	Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. [electronic resource] by Rice, Gillian I Forte, Gabriella M A Szynkiewicz, Marcin Chase, Diana S Aeby, Alec Abdel-Hamid, Mohamed S Ackroyd, Sam Allcock, Rebecca Bailey, Kathryn M Balottin, Umberto Barnerias, Christine Bernard, Genevieve Bodemer, Christine Botella, Maria P Cereda, Cristina Chandler, Kate E Dabydeen, Lyvia Dale, Russell C De Laet, Corinne De Goede, Christian G E L Del Toro, Mireia Effat, Laila Enamorado, Noemi Nunez Fazzi, Elisa Gener, Blanca Haldre, Madli Lin, Jean-Pierre S-M Livingston, John H Lourenco, Charles Marques Marques, Wilson Oades, Patrick Peterson, Pärt Rasmussen, Magnhild Roubertie, Agathe Schmidt, Johanna Loewenstein Shalev, Stavit A Simon, Rogelio Spiegel, Ronen Swoboda, Kathryn J Temtamy, Samia A Vassallo, Grace Vilain, Catheline N Vogt, Julie Wermenbol, Vanessa Whitehouse, William P Soler, Doriette Olivieri, Ivana Orcesi, Simona Aglan, Mona S Zaki, Maha S Abdel-Salam, Ghada M H Vanderver, Adeline Kisand, Kai Rozenberg, Flore Lebon, Pierre Crow, Yanick J Producer: 20140114 In: The Lancet. Neurology vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

Refine your search

Availability

Authors

Topics

Languages

Your search returned 22 results.