Browse by Journal Title

2019

HSPA6: s new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum.
Kause, F., Zhang, R., Ludwig, M., Schmiedeke, E., Rissmann, A., Thiele, H., Altmueller, J., Herms, S., Hilger, A.C., Hildebrandt, F. and Reutter, H.
Birth Defects Research 111 (10): 591-597. 1 June 2019

2018

Exome sequencing in syndromic brain malformations identifies novel mutations in ACTB, and SLC9A6, and suggests BAZ1A as a new candidate gene.
Weitensteiner, V., Zhang, R., Bungenberg, J., Marks, M., Gehlen, J., Ralser, D.J., Hilger, A.C., Sharma, A., Schumacher, J., Gembruch, U., Merz, W.M., Becker, A., Altmüller, J., Thiele, H., Herrmann, B.G., Odermatt, B., Ludwig, M. and Reutter, H.
Birth Defects Research 110 (7): 587-597. 17 April 2018