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	101.	Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability. [electronic resource] by Twigg, Stephen R F Forecki, Jennifer Goos, Jacqueline A C Richardson, Ivy C A Hoogeboom, A Jeannette M van den Ouweland, Ans M W Swagemakers, Sigrid M A Lequin, Maarten H Van Antwerp, Daniel McGowan, Simon J Westbury, Isabelle Miller, Kerry A Wall, Steven A van der Spek, Peter J Mathijssen, Irene M J Pauws, Erwin Merzdorf, Christa S Wilkie, Andrew O M Producer: 20151208 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)
	102.	Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia. [electronic resource] by Goos, Jacqueline A C Swagemakers, Sigrid M A Twigg, Stephen R F van Dooren, Marieke F Hoogeboom, A Jeannette M Beetz, Christian Günther, Sven Magielsen, Frank J Ockeloen, Charlotte W A Ramos-Arroyo, Maria Pfundt, Rolph Yntema, Helger G van der Spek, Peter J Stanier, Philip Wieczorek, Dagmar Wilkie, Andrew O M van den Ouweland, Ans M W Mathijssen, Irene M J Hurst, Jane A Producer: 20171212 In: European journal of human genetics : EJHG vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	103.	Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes. [electronic resource] by Twigg, Stephen R F Babbs, Christian van den Elzen, Marijke E P Goriely, Anne Taylor, Stephen McGowan, Simon J Giannoulatou, Eleni Lonie, Lorne Ragoussis, Jiannis Sadighi Akha, Elham Knight, Samantha J L Zechi-Ceide, Roseli M Hoogeboom, Jeannette A M Pober, Barbara R Toriello, Helga V Wall, Steven A Rita Passos-Bueno, M Brunner, Han G Mathijssen, Irene M J Wilkie, Andrew O M Producer: 20130903 In: Human molecular genetics vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	104.	Diagnostic value of exome and whole genome sequencing in craniosynostosis. [electronic resource] by Miller, Kerry A Twigg, Stephen R F McGowan, Simon J Phipps, Julie M Fenwick, Aimée L Johnson, David Wall, Steven A Noons, Peter Rees, Katie E M Tidey, Elizabeth A Craft, Judith Taylor, John Taylor, Jenny C Goos, Jacqueline A C Swagemakers, Sigrid M A Mathijssen, Irene M J van der Spek, Peter J Lord, Helen Lester, Tracy Abid, Noina Cilliers, Deirdre Hurst, Jane A Morton, Jenny E V Sweeney, Elizabeth Weber, Astrid Wilson, Louise C Wilkie, Andrew O M Producer: 20171103 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)
	105.	Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. [electronic resource] by Sharma, Vikram P Fenwick, Aimée L Brockop, Mia S McGowan, Simon J Goos, Jacqueline A C Hoogeboom, A Jeannette M Brady, Angela F Jeelani, Nu Owase Lynch, Sally Ann Mulliken, John B Murray, Dylan J Phipps, Julie M Sweeney, Elizabeth Tomkins, Susan E Wilson, Louise C Bennett, Sophia Cornall, Richard J Broxholme, John Kanapin, Alexander Johnson, David Wall, Steven A van der Spek, Peter J Mathijssen, Irene M J Maxson, Robert E Twigg, Stephen R F Wilkie, Andrew O M 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)
	106.	De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder. [electronic resource] by Calpena, Eduardo Hervieu, Alexia Kaserer, Teresa Swagemakers, Sigrid M A Goos, Jacqueline A C Popoola, Olajumoke Ortiz-Ruiz, Maria Jesus Barbaro-Dieber, Tina Bownass, Lucy Brilstra, Eva H Brimble, Elise Foulds, Nicola Grebe, Theresa A Harder, Aster V E Lees, Melissa M Monaghan, Kristin G Newbury-Ecob, Ruth A Ong, Kai-Ren Osio, Deborah Reynoso Santos, Francis Jeshira Ruzhnikov, Maura R Z Telegrafi, Aida van Binsbergen, Ellen van Dooren, Marieke F van der Spek, Peter J Blagg, Julian Twigg, Stephen R F Mathijssen, Irene M J Clarke, Paul A Wilkie, Andrew O M Producer: 20200203 In: American journal of human genetics vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	107.	De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder. [electronic resource] by Reijnders, Margot R F Miller, Kerry A Alvi, Mohsan Goos, Jacqueline A C Lees, Melissa M de Burca, Anna Henderson, Alex Kraus, Alison Mikat, Barbara de Vries, Bert B A Isidor, Bertrand Kerr, Bronwyn Marcelis, Carlo Schluth-Bolard, Caroline Deshpande, Charu Ruivenkamp, Claudia A L Wieczorek, Dagmar Baralle, Diana Blair, Edward M Engels, Hartmut Lüdecke, Hermann-Josef Eason, Jacqueline Santen, Gijs W E Clayton-Smith, Jill Chandler, Kate Tatton-Brown, Katrina Payne, Katelyn Helbig, Katherine Radtke, Kelly Nugent, Kimberly M Cremer, Kirsten Strom, Tim M Bird, Lynne M Sinnema, Margje Bitner-Glindzicz, Maria van Dooren, Marieke F Alders, Marielle Koopmans, Marije Brick, Lauren Kozenko, Mariya Harline, Megan L Klaassens, Merel Steinraths, Michelle Cooper, Nicola S Edery, Patrick Yap, Patrick Terhal, Paulien A van der Spek, Peter J Lakeman, Phillis Taylor, Rachel L Littlejohn, Rebecca O Pfundt, Rolph Mercimek-Andrews, Saadet Stegmann, Alexander P A Kant, Sarina G McLean, Scott Joss, Shelagh Swagemakers, Sigrid M A Douzgou, Sofia Wall, Steven A Küry, Sébastien Calpena, Eduardo Koelling, Nils McGowan, Simon J Twigg, Stephen R F Mathijssen, Irene M J Nellaker, Christoffer Brunner, Han G Wilkie, Andrew O M Producer: 20181211 In: American journal of human genetics vol. 102 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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