Epigenetic Regulation of Gene Transcription

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19. September 2021
RNF43 Pathogenic Germline Variant in a Family with Colorectal Cancer
Mikaeel RR, Young JP, Li Y, Poplawski NK, Smith E, Horsnell M, Uylaki W, Tomita Y, Townsend AR, Feng J, Zibat A, Kaulfuß S, Müller C, Yigit G, Wollnik B, Scott H, Rawlings L, Denae H, Vakulin C, Dubowsky A, Price TJ
13. August 2021
MFSD2A-associated primary microcephaly – Expanding the clinical and mutational spectrum of this ultra-rare disease
Khuller K, Yigit G, Grijalva CM, Altmüller J, Thiele H, Nürnberg P, Elcioglu NH, Yeter B, Hehr U, Stein A, Della Marina A, Köninger A, Depienne C, Kaiser FJ, Wollnik B, Kuechler A
13. August 2021
Impaired Exercise Tolerance in Repaired Tetralogy of Fallot Is Associated With Impaired Biventricular Contractile Reserve: An Exercise-Stress Real-Time Cardiovascular Magnetic Resonance Study
Steinmetz M, Stümpfig T, Seehase M, Schuster A, Kowallick J, Müller M, Unterberg-Buchwald C, Kutty S, Lotz J, Uecker M, Paul T
2. August 2021
Postnatal SETD1B is essential for learning and the regulation of neuronal plasticity genes
Michurina A, Sakib MS, Kerimoglu C, Krüger DM, Kaurani L, Islam MR, Devesh JP, Schröder S, Centeno TP, Zhou J, Pradhan R, Cha J, Xu X, Eichele G, Zeisberg EM, Kranz A, Stewart AF, Fischer A
12. July 2021
Human engineered skeletal muscle of hypaxial origin from pluripotent stem cells with advanced function and regenerative capacity
Shahriyari M, Islam M, Sakib M, Rika A, Krueger D, Kaurani L, Anandakumar H, Shomroni O, Schmidt M, Salinas G, Unger A, Linke W, Zschuentzsch J, Schmidt J, Fischer A, Zimmermann W, Tiburcy M
9. July 2021
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies
Iqbal M, Maroofian R, Çavdarlı B, Riccardi F, Field M, Banka S, Bubshait DK, Li Y, Hertecant J, Baig SM, Dyment D, Efthymiou S, Abdullah U, Makhdoom EUH, Ali Z, Scherf de Almeida T, Molinari F, Mignon-Ravix C, Chabrol B, Antony J, Ades L, Pagnamenta AT, Jackson A, Douzgou S; Genomics England Research Consortium, Beetz C, Karageorgou V, Vona B, Rad A, Baig JM, Sultan T, Alvi JR, Maqbool S, Rahman F, Toosi MB, Ashrafzadeh F, Imannezhad S, Karimiani EG, Sarwar Y, Khan S, Jameel M, Noegel AA, Budde B, Altmüller J, Motameny S, Höhne W, Houlden H, Nürnberg P, Wollnik B, Villard L, Alkuraya FS, Osmond M, Hussain MS, Yigit G
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