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	1.	Medulloblastoma as a first presentation of fanconi anemia. [electronic resource] by Tischkowitz, Marc D Chisholm, Julia Gaze, Mark Michalski, Antony Rosser, Elisabeth M Producer: 20040220 In: Journal of pediatric hematology/oncology vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14. [electronic resource] by Van Esch, Hilde Rosser, Elisabeth M Janssens, Sandra Van Ingelghem, Ingrid Loeys, Bart Menten, Bjorn Producer: 20110128 In: Journal of medical genetics vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature. [electronic resource] by Klaassens, Merel Morrogh, Deborah Rosser, Elisabeth M Jaffer, Fatima Vreeburg, Maaike Bok, Levinus A Segboer, Tim van Belzen, Martine Quinlivan, Ros M Kumar, Ajith Hurst, Jane A Scott, Richard H Producer: 20160106 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)
	4.	Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation. [electronic resource] by Koolen, David A Reardon, William Rosser, Elisabeth M Lacombe, Didier Hurst, Jane A Law, Caroline J Bongers, Ernie M H F van Ravenswaaij-Arts, Conny M Leisink, Martijn A R van Kessel, Ad Geurts Veltman, Joris A de Vries, Bert B A Producer: 20051027 In: European journal of human genetics : EJHG vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm. [electronic resource] by Onoufriadis, Alexandros Shoemark, Amelia Munye, Mustafa M James, Chela T Schmidts, Miriam Patel, Mitali Rosser, Elisabeth M Bacchelli, Chiara Beales, Philip L Scambler, Peter J Hart, Stephen L Danke-Roelse, Jeannette E Sloper, John J Hull, Sarah Hogg, Claire Emes, Richard D Pals, Gerard Moore, Anthony T Chung, Eddie M K Mitchison, Hannah M Producer: 20140808 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)
	6.	Clinical and molecular phenotype of Aicardi-Goutieres syndrome. [electronic resource] by Rice, Gillian Patrick, Teresa Parmar, Rekha Taylor, Claire F Aeby, Alec Aicardi, Jean Artuch, Rafael Montalto, Simon Attard Bacino, Carlos A Barroso, Bruno Baxter, Peter Benko, Willam S Bergmann, Carsten Bertini, Enrico Biancheri, Roberta Blair, Edward M Blau, Nenad Bonthron, David T Briggs, Tracy Brueton, Louise A Brunner, Han G Burke, Christopher J Carr, Ian M Carvalho, Daniel R Chandler, Kate E Christen, Hans-Jurgen Corry, Peter C Cowan, Frances M Cox, Helen D'Arrigo, Stefano Dean, John De Laet, Corinne De Praeter, Claudine Dery, Catherine Ferrie, Colin D Flintoff, Kim Frints, Suzanna G M Garcia-Cazorla, Angels Gener, Blanca Goizet, Cyril Goutieres, Francoise Green, Andrew J Guet, Agnes Hamel, Ben C J Hayward, Bruce E Heiberg, Arvid Hennekam, Raoul C Husson, Marie Jackson, Andrew P Jayatunga, Rasieka Jiang, Yong-Hui Kant, Sarina G Kao, Amy King, Mary D Kingston, Helen M Klepper, Joerg van der Knaap, Marjo S Kornberg, Andrew J Kotzot, Dieter Kratzer, Wilfried Lacombe, Didier Lagae, Lieven Landrieu, Pierre Georges Lanzi, Giovanni Leitch, Andrea Lim, Ming J Livingston, John H Lourenco, Charles M Lyall, E G Hermione Lynch, Sally A Lyons, Michael J Marom, Daphna McClure, John P McWilliam, Robert Melancon, Serge B Mewasingh, Leena D Moutard, Marie-Laure Nischal, Ken K Ostergaard, John R Prendiville, Julie Rasmussen, Magnhild Rogers, R Curtis Roland, Dominique Rosser, Elisabeth M Rostasy, Kevin Roubertie, Agathe Sanchis, Amparo Schiffmann, Raphael Scholl-Burgi, Sabine Seal, Sunita Shalev, Stavit A Corcoles, C Sierra Sinha, Gyan P Soler, Doriette Spiegel, Ronen Stephenson, John B P Tacke, Uta Tan, Tiong Yang Till, Marianne Tolmie, John L Tomlin, Pam Vagnarelli, Federica Valente, Enza Maria Van Coster, Rudy N A Van der Aa, Nathalie Vanderver, Adeline Vles, Johannes S H Voit, Thomas Wassmer, Evangeline Weschke, Bernhard Whiteford, Margo L Willemsen, Michel A A Zankl, Andreas Zuberi, Sameer M Orcesi, Simona Fazzi, Elisa Lebon, Pierre Crow, Yanick J Producer: 20071030 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)