Yazar "Beetz, Christian" için listeleme
-
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease
Marais, Anett; Bertoli-Avella, Aida M.; Beetz, Christian; Altunoğlu, Umut; Alhashem, Amal; Mohamed, Sarar; Alghamdi, Abdulaziz; Willems, Patrick; Tsoutsou, Eirini; Fryssira, Helena; Pons, Roser; Almarzooq, Reem; Yüksel Karatoprak, Elif; Ayaz, Akif; Ünverengil, Gökçen; Calvo, Maria; Yüksel, Zafer; Bauer, Peter (Elsevier Masson s.r.l., 2022)Transcriptional coregulators modulate the efficiency of transcription factors. Bi-allelic variants in TRIP4 and ASCC1, two genes that encode members of the tetrameric coregulator ASC-1, have recently been associated with ... -
LRIG2 mutations cause urofacial syndrome
Stuart, Helen; Roberts, Neil; Burgu, Berk; Daly, Sarah; Urquhart, Jill; Bhaskar, Sanjeev; Dickerson, Jonathan; Mermerkaya, Murat; Silay, Mesrur Selcuk; Lewis, Malcolm; Orive Olondriz, Beatriz; Gener, Blanca; Beetz, Christian; Varga, Rita Eva; Gülpnar, Ömer; Süer, Evren; Soygür, Tarkan; Özçakar Birsin, Zeynep; Yalçnkaya, Fatoş; Kavaz, Aslı; Bulum, Burcu; Gücük, Adnan; Yue, Wyatt; Erdogan, Fırat; Berry, Andrew; Hanley, Neil; McKenzie, Edward; Hilton, Emma; Woolf, Adrian; Newman, William (2013)Urofacial syndrome (UFS) (or Ochoa syndrome) is an autosomal-recessive disease characterized by congenital urinary bladder dysfunction, associated with a significant risk of kidney failure, and an abnormal facial expression ...