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Article

Pan, Y.E. and Tibbe, D. and Harms, F.L. and Reißner, C. and Becker, K. and Dingmann, B. and Mirzaa, G. and Kattentidt‐Mouravieva, A.A. and Shoukier, M. and Aggarwal, Shagun and Missler, M. and Kutsche, K. and Kreienkamp, H.J. (2020) Missense mutations in CASK, coding for the calcium‐/calmodulin‐dependent serine protein kinase, interfere with neurexin binding and neurexin‐induced oligomerization. Journal of Neurochemistry. ISSN 0022-3042 (In Press)

Harms, F.L. and Girisha, K.M. and Hardigan, A.A. and Kortüm, F. and Shukla, A. and Alawi, M. and Dalal, Ashwin and Brady, L. and Tarnopolsky, M. and Bird, L.M. and Ceulemans, S. and Bebin, M. and Bowling, K.M. and Hiatt, S.M. and Lose, E.J. and Primiano, M. and Chung, W.K. and Juusola, J. and Akdemir, Z.C. and Bainbridge, M. and Charng, W.L. and Drummond-Borg, M. and Eldomery, M.K. and El-Hattab, A.W. and Saleh, M.A.M. and Bézieau, S. and Cogné, B. and Isidor, B. and Küry, S. and Lupski, J.R. and Myers, R.M. and Cooper, G.M. and Kutsche, K. (2017) Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. The American Journal of Human Genetics, 100 (1). pp. 117-127. ISSN 0002-9297

Girisha, K.M. and Kortüm, F. and Shah, H. and Alawi, M. and Dalal, Ashwin and Bhavani, G.S. and Kutsche, K. (2016) A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene. European Journal of Human Genetics, 24 (8). pp. 1206-1210. ISSN 1018-4813

Dalal, Ashwin and Bhavani, G.S. and Padma Priya, T. and Bierhals, T. and Nandineni, M.R. and Danda, S.R. and Danda, D. and Shah, H. and Vijayan, S. and Gowrishankar, K. and Phadke, S.R. and Bidchol, A.M. and Rao, A.P. and Nampoothiri, S. and Kutsche, K. and Girisha, K.M. (2012) Analysis of theWISP3gene in Indian families with progressive pseudorheumatoid dysplasia. American Journal of Medical Genetics Part A, 158A (11). pp. 2820-2828. ISSN 1552-4825

This list was generated on Thu Apr 25 22:10:55 2024 IST.