Your search returned 12 results.

Results
	1.	The tale of a nail continues: further delineation using CGHarray of the critical region at 4q34 causing the volar nail sign. [electronic resource] by McKay, Victoria H Fryer, Alan E Producer: 20150831 In: Clinical dysmorphology vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Congenital melanocytic naevus with associated neurofibroma and schwannoma-like change. [electronic resource] by McCann, Emma Fryer, Alan E Kokai, George Producer: 20050920 In: Clinical dysmorphology vol. 14 Availability: No items available. Save to lists Add to cart (remove)
	3.	Warsaw Breakage Syndrome--A further report, emphasising cutaneous findings. [electronic resource] by Bailey, Claire Fryer, Alan E Greenslade, Mark Producer: 20160128 In: European journal of medical genetics vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Septo-optic dysplasia, limb anomalies and cutis aplasia: further evidence for overlap between Pagon and Adams-Oliver syndromes. [electronic resource] by Pottinger, Caroline Clare Joshi, Harish Rowe, Sharon A Fryer, Alan E Producer: 20091112 In: Clinical dysmorphology vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	A family with Duane anomaly and distal limb abnormalities: a further family with the arthrogryposis-ophthalmoplegia syndrome. [electronic resource] by McCann, Emma Fryer, Alan E Newman, William Appleton, Richard E Kohlhase, Jürgen Producer: 20060424 In: American journal of medical genetics. Part A vol. 139A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Isochromosome 20p associated with multiple congenital abnormalities. [electronic resource] by Fryer, Alan E Ashworth, Michael Hawe, Jed Pilling, David Pauling, Margaret Maye, Una Producer: 20050526 In: Clinical dysmorphology vol. 14 Availability: No items available. Save to lists Add to cart (remove)
	7.	Genitourinary malformations as a feature of the Pallister-Hall syndrome. [electronic resource] by McCann, Emma Fryer, Alan E Craigie, Ross Baillie, Colin Ba'ath, Muhammed E Selby, Andrew Biesecker, Leslie G Producer: 20090107 In: Clinical dysmorphology vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Correction to: Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review. [electronic resource] by Pittaway, James F H Harrison, Christopher Rhee, Yumie Holder-Espinasse, Muriel Fryer, Alan E Cundy, Tim Drake, William M Irving, Melita D Publication details: Orphanet journal of rare diseases May 2019 In: Orphanet journal of rare diseases vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review. [electronic resource] by Pittaway, James F H Harrison, Christopher Rhee, Yumie Holder-Espinasse, Muriel Fryer, Alan E Cundy, Tim Drake, William M Irving, Melita D Producer: 20190314 In: Orphanet journal of rare diseases vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	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)
	11.	Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. [electronic resource] by Jenkinson, Emma M Rodero, Mathieu P Kasher, Paul R Uggenti, Carolina Oojageer, Anthony Goosey, Laurence C Rose, Yoann Kershaw, Christopher J Urquhart, Jill E Williams, Simon G Bhaskar, Sanjeev S O'Sullivan, James Baerlocher, Gabriela M Haubitz, Monika Aubert, Geraldine Barañano, Kristin W Barnicoat, Angela J Battini, Roberta Berger, Andrea Blair, Edward M Brunstrom-Hernandez, Janice E Buckard, Johannes A Cassiman, David M Caumes, Rosaline Cordelli, Duccio M De Waele, Liesbeth M Fay, Alexander J Ferreira, Patrick Fletcher, Nicholas A Fryer, Alan E Goel, Himanshu Hemingway, Cheryl A Henneke, Marco Hughes, Imelda Jefferson, Rosalind J Kumar, Ram Lagae, Lieven Landrieu, Pierre G Lourenço, Charles M Malpas, Timothy J Mehta, Sarju G Metz, Imke Naidu, Sakkubai Õunap, Katrin Panzer, Axel Prabhakar, Prab Quaghebeur, Gerardine Schiffmann, Raphael Sherr, Elliott H Sinnathuray, Kanaga R Soh, Calvin Stewart, Helen S Stone, John Van Esch, Hilde Van Mol, Christine E G Vanderver, Adeline Wakeling, Emma L Whitney, Andrea Pavitt, Graham D Griffiths-Jones, Sam Rice, Gillian I Revy, Patrick van der Knaap, Marjo S Livingston, John H O'Keefe, Raymond T Crow, Yanick J Publication details: Nature genetics 01 2017 In: Nature genetics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. [electronic resource] by Jenkinson, Emma M Rodero, Mathieu P Kasher, Paul R Uggenti, Carolina Oojageer, Anthony Goosey, Laurence C Rose, Yoann Kershaw, Christopher J Urquhart, Jill E Williams, Simon G Bhaskar, Sanjeev S O'Sullivan, James Baerlocher, Gabriela M Haubitz, Monika Aubert, Geraldine Barañano, Kristin W Barnicoat, Angela J Battini, Roberta Berger, Andrea Blair, Edward M Brunstrom-Hernandez, Janice E Buckard, Johannes A Cassiman, David M Caumes, Rosaline Cordelli, Duccio M De Waele, Liesbeth M Fay, Alexander J Ferreira, Patrick Fletcher, Nicholas A Fryer, Alan E Goel, Himanshu Hemingway, Cheryl A Henneke, Marco Hughes, Imelda Jefferson, Rosalind J Kumar, Ram Lagae, Lieven Landrieu, Pierre G Lourenço, Charles M Malpas, Timothy J Mehta, Sarju G Metz, Imke Naidu, Sakkubai Õunap, Katrin Panzer, Axel Prabhakar, Prab Quaghebeur, Gerardine Schiffmann, Raphael Sherr, Elliott H Sinnathuray, Kanaga R Soh, Calvin Stewart, Helen S Stone, John Van Esch, Hilde Van Mol, Christine E G Vanderver, Adeline Wakeling, Emma L Whitney, Andrea Pavitt, Graham D Griffiths-Jones, Sam Rice, Gillian I Revy, Patrick van der Knaap, Marjo S Livingston, John H O'Keefe, Raymond T Crow, Yanick J Producer: 20170623 In: Nature genetics vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)