2023

The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.
Schröder, S., Yigit, G., Li, Y., Altmüller, J. ORCID: https://orcid.org/0000-0003-4372-1521, Büttel, H.M., Fiedler, B., Kretzschmar, C., Nürnberg, P., Seeger, J., Serpieri, V., Valente, E.M., Wollnik, B., Boltshauser, E. and Brockmann, K. ORCID: https://orcid.org/0000-0001-6823-9091
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., Folgueira, M., Elorza-Vidal, X., Alia, A., Hoegg-Beiler, M.B., Eeza, M.N.H., Díaz, M.L., Nunes, V., Barrallo-Gimeno, A. and Estévez, R. ORCID: https://orcid.org/0000-0003-1579-650X
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., Ravindran, E., Du, H., Froehler, S. ORCID: https://orcid.org/0000-0001-8000-2927, Strehl, K., Kraemer, N., Issa-Jahns, L., Amulic, B., Ninnemann, O., Xiao, M.S., Eirich, K., Koelsch, U., Hauptmann, K., John, R., Schindler, D., Wahn, V., Chen, W. ORCID: https://orcid.org/0000-0003-3263-1627 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., Froehler, S. ORCID: https://orcid.org/0000-0001-8000-2927, Oexle, K., Ravindran, E., Schindler, D., Staab, T., Huebner, A., Kraemer, N., Chen, W. ORCID: https://orcid.org/0000-0003-3263-1627 and Kaindl, A.M.
Orphanet Journal of Rare Diseases 8 (1): 178. 14 November 2013