نتائج البحث - 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... حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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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