Browse by Journal Title

2019

HSPA6: s new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum.
Kause, F. and Zhang, R. and Ludwig, M. and Schmiedeke, E. and Rissmann, A. and Thiele, H. and Altmueller, J. and Herms, S. and Hilger, A.C. and 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. and Zhang, R. and Bungenberg, J. and Marks, M. and Gehlen, J. and Ralser, D.J. and Hilger, A.C. and Sharma, A. and Schumacher, J. and Gembruch, U. and Merz, W.M. and Becker, A. and Altmüller, J. and Thiele, H. and Herrmann, B.G. and Odermatt, B. and Ludwig, M. and Reutter, H.
Birth Defects Research 110 (7): 587-597. 17 April 2018