Hakutulokset - Challis, Rachel C

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 Syndrom... Tekijä 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

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Thrombotic Microangiopathy in Inverted Formin 2–Mediated Renal Disease Tekijä 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

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Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism Tekijä 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

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Genetic Findings in Short Turkish Children Born to Consanguineous Parents Tekijä Joustra, Sjoerd D., Isik, Emregul, Wit, Jan M., Catli, Gonul, Anik, Ahmet, Haliloglu, Belma, Kandemir, Nurgun, Ozsu, Elif, Hendriks, Yvonne M.C., de Bruin, Christiaan, Kant, Sarina G., Campos-Barros, Angel, Challis, Rachel C., Parry, David, Harley, Margaret E., Jackson, Andrew, Losekoot, Monique, van Duyvenvoorde, Hermine A.

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Characterization of a Factor H Mutation That Perturbs the Alternative Pathway of Complement in a Family with Membranoproliferative GN Tekijä 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

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Gain of function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions Tekijä 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.

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Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism Tekijä 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 MA, 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 AM, Simpson, Michael A, Cortez, David, Alkuraya, Fowzan S, Mathew, Christopher G, Jackson, Andrew P, Stewart, Grant S

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