Browse by Journal Title

2023

The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.
Schröder, S. and Yigit, G. and Li, Y. and Altmüller, J. and Büttel, H.M. and Fiedler, B. and Kretzschmar, C. and Nürnberg, P. and Seeger, J. and Serpieri, V. and Valente, E.M. and Wollnik, B. and Boltshauser, E. and Brockmann, K.
Orphanet Journal of Rare Diseases 18 (1): 101. 2 May 2023

2019

Comparison of zebrafish and mice knockouts for Megalencephalic Leukoencephalopathy proteins indicates that GlialCAM/MLC1 forms a functional unit.
Pérez-Rius, C. and Folgueira, M. and Elorza-Vidal, X. and Alia, A. and Hoegg-Beiler, M.B. and Eeza, M.N.H. and Díaz, M.L. and Nunes, V. and Barrallo-Gimeno, A. and Estévez, R.
Orphanet Journal of Rare Diseases 14 (1): 268. 21 November 2019

2014

Combined immunodeficiency develops with age in immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2).
von Bernuth, H. and Ravindran, E. and Du, H. and Froehler, S. and Strehl, K. and Kraemer, N. and Issa-Jahns, L. and Amulic, B. and Ninnemann, O. and Xiao, M.S. and Eirich, K. and Koelsch, U. and Hauptmann, K. and John, R. and Schindler, D. and Wahn, V. and Chen, W. and Kaindl, A.M.
Orphanet Journal of Rare Diseases 9 (1): 116. 21 October 2014

2013

Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutations.
Farag, H.G. and Froehler, S. and Oexle, K. and Ravindran, E. and Schindler, D. and Staab, T. and Huebner, A. and Kraemer, N. and Chen, W. and Kaindl, A.M.
Orphanet Journal of Rare Diseases 8 (1): 178. 14 November 2013