Your search returned 22 results.

Results
	1.	Streamlining the use of IHC in identifying germline mismatch repair mutations in Lynch syndrome. [electronic resource] by Rea, Gillian Magee, Alex Loughrey, Maurice B Producer: 20140109 In: The Ulster medical journal vol. 81 Availability: No items available. Save to lists Add to cart (remove)
	2.	Down syndrome, achondroplasia and tetralogy of Fallot. [electronic resource] by Dabir, Tabib McCrossan, Brian A Sweeney, Louise Magee, Alex Sands, Andrew J Producer: 20080819 In: Neonatology vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic facies. [electronic resource] by Casey, Jillian Jenkinson, Allan Magee, Alex Ennis, Sean Monavari, Ahmad Green, Andrew Lynch, Sally A Crushell, Ellen Hughes, Joanne Producer: 20170206 In: Clinical dysmorphology vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability. [electronic resource] by Hunt, David Leventer, Richard J Simons, Cas Taft, Ryan Swoboda, Kathryn J Gawne-Cain, Mary Magee, Alex C Turnpenny, Peter D Baralle, Diana Producer: 20150709 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)
	5.	Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region. [electronic resource] by Vallat, Jean-Michel Nizon, Mathilde Magee, Alex Isidor, Bertrand Magy, Laurent Péréon, Yann Richard, Laurence Ouvrier, Robert Cogné, Benjamin Devaux, Jérôme Zuchner, Stephan Mathis, Stéphane Producer: 20170620 In: Journal of neuropathology and experimental neurology vol. 75 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	None [electronic resource] by Hengel, Holger Magee, Alex Mahanjah, Muhammad Vallat, Jean-Michel Ouvrier, Robert Abu-Rashid, Mohammad Mahamid, Jamal Schüle, Rebecca Schulze, Martin Krägeloh-Mann, Ingeborg Bauer, Peter Züchner, Stephan Sharkia, Rajech Schöls, Ludger Publication details: Neurology. Genetics Apr 2017 In: Neurology. Genetics vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	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)
	8.	Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability. [electronic resource] by Jongmans, Marjolijn C J Hoefsloot, Lies H van der Donk, Kim P Admiraal, Ronald J Magee, Alex van de Laar, Ingrid Hendriks, Yvonne Verheij, Joke B G M Walpole, Ian Brunner, Han G van Ravenswaaij, Conny M A Producer: 20080108 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)
	9.	Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis. [electronic resource] by Mattioli, Francesca Schaefer, Elise Magee, Alex Mark, Paul Mancini, Grazia M Dieterich, Klaus Von Allmen, Gretchen Alders, Marielle Coutton, Charles van Slegtenhorst, Marjon Vieville, Gaëlle Engelen, Mark Cobben, Jan Maarten Juusola, Jane Pujol, Aurora Mandel, Jean-Louis Piton, Amélie Producer: 20170524 In: American journal of human genetics vol. 100 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. [electronic resource] by Kleefstra, Tjitske Brunner, Han G Amiel, Jeanne Oudakker, Astrid R Nillesen, Willy M Magee, Alex Geneviève, David Cormier-Daire, Valérie van Esch, Hilde Fryns, Jean-Pierre Hamel, Ben C J Sistermans, Erik A de Vries, Bert B A van Bokhoven, Hans Producer: 20060914 In: American journal of human genetics vol. 79 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome. [electronic resource] by Williamson, Kathleen A Hever, Ann M Rainger, Joe Rogers, R Curtis Magee, Alex Fiedler, Zdenek Keng, Wee Teik Sharkey, Freddie H McGill, Niolette Hill, Clare J Schneider, Adele Messina, Mario Turnpenny, Peter D Fantes, Judy A van Heyningen, Veronica FitzPatrick, David R Producer: 20060816 In: Human molecular genetics vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome. [electronic resource] by Sleven, Hannah Welsh, Seth J Yu, Jing Churchill, Mair E A Wright, Caroline F Henderson, Alex Horvath, Rita Rankin, Julia Vogt, Julie Magee, Alex McConnell, Vivienne Green, Andrew King, Mary D Cox, Helen Armstrong, Linlea Lehman, Anna Nelson, Tanya N Williams, Jonathan Clouston, Penny Hagman, James Németh, Andrea H Producer: 20170524 In: American journal of human genetics vol. 100 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Nicolaides-Baraitser syndrome: Delineation of the phenotype. [electronic resource] by Sousa, Sérgio B Abdul-Rahman, Omar A Bottani, Armand Cormier-Daire, Valérie Fryer, Alan Gillessen-Kaesbach, Gabriele Horn, Denise Josifova, Dragana Kuechler, Alma Lees, Melissa MacDermot, Kay Magee, Alex Morice-Picard, Fanny Rosser, Elizabeth Sarkar, Ajoy Shannon, Nora Stolte-Dijkstra, Irene Verloes, Alain Wakeling, Emma Wilson, Louise Hennekam, Raoul C M Producer: 20090930 In: American journal of medical genetics. Part A vol. 149A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. [electronic resource] by Tatton-Brown, Katrina Hanks, Sandra Ruark, Elise Zachariou, Anna Duarte, Silvana Del Vecchio Ramsay, Emma Snape, Katie Murray, Anne Perdeaux, Elizabeth R Seal, Sheila Loveday, Chey Banka, Siddharth Clericuzio, Carol Flinter, Frances Magee, Alex McConnell, Vivienne Patton, Michael Raith, Wolfgang Rankin, Julia Splitt, Miranda Strenger, Volker Taylor, Clare Wheeler, Patricia Temple, Karen I Cole, Trevor Douglas, Jenny Rahman, Nazneen Producer: 20120629 In: Oncotarget vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype. [electronic resource] by Beunders, Gea van de Kamp, Jiddeke Vasudevan, Pradeep Morton, Jenny Smets, Katrien Kleefstra, Tjitske de Munnik, Sonja A Schuurs-Hoeijmakers, Janneke Ceulemans, Berten Zollino, Marcella Hoffjan, Sabine Wieczorek, Stefan So, Joyce Mercer, Leanne Walker, Tanya Velsher, Lea Parker, Michael J Magee, Alex C Elffers, Bart Kooy, R Frank Yntema, Helger G Meijers-Heijboer, Elizabeth J Sistermans, Erik A Producer: 20171030 In: Journal of medical genetics vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. [electronic resource] by Valente, Enza Maria Brancati, Francesco Silhavy, Jennifer L Castori, Marco Marsh, Sarah E Barrano, Giuseppe Bertini, Enrico Boltshauser, Eugen Zaki, Maha S Abdel-Aleem, Alice Abdel-Salam, Ghada M H Bellacchio, Emanuele Battini, Roberta Cruse, Robert P Dobyns, William B Krishnamoorthy, Kalpathy S Lagier-Tourenne, Clotilde Magee, Alex Pascual-Castroviejo, Ignacio Salpietro, Carmelo D Sarco, Dean Dallapiccola, Bruno Gleeson, Joseph G Producer: 20060509 In: Annals of neurology vol. 59 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Clinical and genetic aspects of KBG syndrome. [electronic resource] by Low, Karen Ashraf, Tazeen Canham, Natalie Clayton-Smith, Jill Deshpande, Charu Donaldson, Alan Fisher, Richard Flinter, Frances Foulds, Nicola Fryer, Alan Gibson, Kate Hayes, Ian Hills, Alison Holder, Susan Irving, Melita Joss, Shelagh Kivuva, Emma Lachlan, Kathryn Magee, Alex McConnell, Vivienne McEntagart, Meriel Metcalfe, Kay Montgomery, Tara Newbury-Ecob, Ruth Stewart, Fiona Turnpenny, Peter Vogt, Julie Fitzpatrick, David Williams, Maggie Smithson, Sarah Producer: 20171019 In: American journal of medical genetics. Part A vol. 170 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. [electronic resource] by Tatton-Brown, Katrina Murray, Anne Hanks, Sandra Douglas, Jenny Armstrong, Ruth Banka, Siddharth Bird, Lynne M Clericuzio, Carol L Cormier-Daire, Valerie Cushing, Tom Flinter, Frances Jacquemont, Marie-Line Joss, Shelagh Kinning, Esther Lynch, Sally Ann Magee, Alex McConnell, Vivienne Medeira, Ana Ozono, Keiichi Patton, Michael Rankin, Julia Shears, Debbie Simon, Marleen Splitt, Miranda Strenger, Volker Stuurman, Kyra Taylor, Clare Titheradge, Hannah Van Maldergem, Lionel Temple, I Karen Cole, Trevor Seal, Sheila Rahman, Nazneen Producer: 20140702 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)
	19.	De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. [electronic resource] by Gordon, Christopher T Xue, Shifeng Yigit, Gökhan Filali, Hicham Chen, Kelan Rosin, Nadine Yoshiura, Koh-Ichiro Oufadem, Myriam Beck, Tamara J McGowan, Ruth Magee, Alex C Altmüller, Janine Dion, Camille Thiele, Holger Gurzau, Alexandra D Nürnberg, Peter Meschede, Dieter Mühlbauer, Wolfgang Okamoto, Nobuhiko Varghese, Vinod Irving, Rachel Sigaudy, Sabine Williams, Denise Ahmed, S Faisal Bonnard, Carine Kong, Mung Kei Ratbi, Ilham Fejjal, Nawfal Fikri, Meriem Elalaoui, Siham Chafai Reigstad, Hallvard Bole-Feysot, Christine Nitschké, Patrick Ragge, Nicola Lévy, Nicolas Tunçbilek, Gökhan Teo, Audrey S M Cunningham, Michael L Sefiani, Abdelaziz Kayserili, Hülya Murphy, James M Chatdokmaiprai, Chalermpong Hillmer, Axel M Wattanasirichaigoon, Duangrurdee Lyonnet, Stanislas Magdinier, Frédérique Javed, Asif Blewitt, Marnie E Amiel, Jeanne Wollnik, Bernd Reversade, Bruno Producer: 20170905 In: Nature genetics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. [electronic resource] by Banka, Siddharth Veeramachaneni, Ratna Reardon, William Howard, Emma Bunstone, Sancha Ragge, Nicola Parker, Michael J Crow, Yanick J Kerr, Bronwyn Kingston, Helen Metcalfe, Kay Chandler, Kate Magee, Alex Stewart, Fiona McConnell, Vivienne P M Donnelly, Deirdre E Berland, Siren Houge, Gunnar Morton, Jenny E Oley, Christine Revencu, Nicole Park, Soo-Mi Davies, Sally J Fry, Andrew E Lynch, Sally Ann Gill, Harinder Schweiger, Susann Lam, Wayne W K Tolmie, John Mohammed, Shehla N Hobson, Emma Smith, Audrey Blyth, Moira Bennett, Christopher Vasudevan, Pradeep C García-Miñaúr, Sixto Henderson, Alex Goodship, Judith Wright, Michael J Fisher, Richard Gibbons, Richard Price, Susan M C de Silva, Deepthi Temple, I Karen Collins, Amanda L Lachlan, Katherine Elmslie, Frances McEntagart, Meriel Castle, Bruce Clayton-Smith, Jill Black, Graeme C Donnai, Dian Producer: 20120803 In: European journal of human genetics : EJHG vol. 20 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.