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	1.	A De Novo Deletion in the Regulators of Complement Activation Cluster Producing a Hybrid Complement Factor H/Complement Factor H-Related 3 Gene in Atypical Hemolytic Uremic Syndrome. [electronic resource] by Challis, Rachel C Araujo, Geisilaine S R Wong, Edwin K S Anderson, Holly E Awan, Atif Dorman, Anthony M Waldron, Mary Wilson, Valerie Brocklebank, Vicky Strain, Lisa Morgan, B Paul Harris, Claire L Marchbank, Kevin J Goodship, Timothy H J Kavanagh, David Producer: 20170524 In: Journal of the American Society of Nephrology : JASN vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Thrombotic Microangiopathy in Inverted Formin 2 [electronic resource] by Challis, Rachel C Ring, Troels Xu, Yaobo Wong, Edwin K S Flossmann, Oliver Roberts, Ian S D Ahmed, Saeed Wetherall, Michael Salkus, Giedrius Brocklebank, Vicky Fester, Julian Strain, Lisa Wilson, Valerie Wood, Katrina M Marchbank, Kevin J Santibanez-Koref, Mauro Goodship, Timothy H J Kavanagh, David Producer: 20170524 In: Journal of the American Society of Nephrology : JASN vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism. [electronic resource] by Van Esch, Hilde Colnaghi, Rita Freson, Kathleen Starokadomskyy, Petro Zankl, Andreas Backx, Liesbeth Abramowicz, Iga Outwin, Emily Rohena, Luis Faulkner, Claire Leong, Gary M Newbury-Ecob, Ruth A Challis, Rachel C Õunap, Katrin Jaeken, Jacques Seuntjens, Eve Devriendt, Koen Burstein, Ezra Low, Karen J O'Driscoll, Mark Producer: 20200206 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)
	4.	Characterization of a factor H mutation that perturbs the alternative pathway of complement in a family with membranoproliferative GN. [electronic resource] by Wong, Edwin K S Anderson, Holly E Herbert, Andrew P Challis, Rachel C Brown, Paul Reis, Geisilaine S Tellez, James O Strain, Lisa Fluck, Nicholas Humphrey, Ann Macleod, Alison Richards, Anna Ahlert, Daniel Santibanez-Koref, Mauro Barlow, Paul N Marchbank, Kevin J Harris, Claire L Goodship, Timothy H J Kavanagh, David Producer: 20150105 In: Journal of the American Society of Nephrology : JASN vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions. [electronic resource] by Heyn, Patricia Logan, Clare V Fluteau, Adeline Challis, Rachel C Auchynnikava, Tatsiana Martin, Carol-Anne Marsh, Joseph A Taglini, Francesca Kilanowski, Fiona Parry, David A Cormier-Daire, Valerie Fong, Chin-To Gibson, Kate Hwa, Vivian Ibáñez, Lourdes Robertson, Stephen P Sebastiani, Giorgia Rappsilber, Juri Allshire, Robin C Reijns, Martin A M Dauber, Andrew Sproul, Duncan Jackson, Andrew P Producer: 20190424 In: Nature genetics vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. [electronic resource] by Reynolds, John J Bicknell, Louise S Carroll, Paula Higgs, Martin R Shaheen, Ranad Murray, Jennie E Papadopoulos, Dimitrios K Leitch, Andrea Murina, Olga Tarnauskaitė, Žygimantė Wessel, Sarah R Zlatanou, Anastasia Vernet, Audrey von Kriegsheim, Alex Mottram, Rachel M A Logan, Clare V Bye, Hannah Li, Yun Brean, Alexander Maddirevula, Sateesh Challis, Rachel C Skouloudaki, Kassiani Almoisheer, Agaadir Alsaif, Hessa S Amar, Ariella Prescott, Natalie J Bober, Michael B Duker, Angela Faqeih, Eissa Seidahmed, Mohammed Zain Al Tala, Saeed Alswaid, Abdulrahman Ahmed, Saleem Al-Aama, Jumana Yousuf Altmüller, Janine Al Balwi, Mohammed Brady, Angela F Chessa, Luciana Cox, Helen Fischetto, Rita Heller, Raoul Henderson, Bertram D Hobson, Emma Nürnberg, Peter Percin, E Ferda Peron, Angela Spaccini, Luigina Quigley, Alan J Thakur, Seema Wise, Carol A Yoon, Grace Alnemer, Maha Tomancak, Pavel Yigit, Gökhan Taylor, A Malcolm R Reijns, Martin A M Simpson, Michael A Cortez, David Alkuraya, Fowzan S Mathew, Christopher G Jackson, Andrew P Stewart, Grant S 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)