Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome
Kehrer, Christina, Hoischen, Alexander, Menkhaus, Ralf, Schwab, Eva, Müller, Andreas, Kim, Sarah, Kreiß, Martina, Weitensteiner, Valerie, Hilger, Alina, Berg, Christoph, Geipel, Anne, Reutter, Heiko, Gembruch, Ulrich
Published in Prenatal diagnosis (01.10.2016)
Published in Prenatal diagnosis (01.10.2016)
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Exome sequencing in syndromic brain malformations identifies novel mutations in ACTB, and SLC9A6, and suggests BAZ1A as a new candidate gene
Weitensteiner, Valerie, Zhang, Rong, Bungenberg, Julia, Marks, Matthias, Gehlen, Jan, Ralser, Damian J, Hilger, Alina C, Sharma, Amit, Schumacher, Johannes, Gembruch, Ulrich, Merz, Waltraut M, Becker, Albert, Altmüller, Janine, Thiele, Holger, Herrmann, Bernhard G, Odermatt, Benjamin, Ludwig, Michael, Reutter, Heiko
Published in Birth defects research (17.04.2018)
Published in Birth defects research (17.04.2018)
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