4 Einträge gefunden

1. A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing

   1. Yilmaz, Rüstem
   2. Beleza-Meireles, Ana
   3. Price, Susan
   4. Oliveira, Renata
   5. Kubisch, Christian
   6. Clayton-Smith, Jill
   7. Szakszon, Katalin

   2015 - Forschungsinformationssystem des UKE
2. Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome

   1. Kuechler, Alma
   2. Altmüller, Janine
   3. Nürnberg, Peter
   4. Kotthoff, Stefan
   5. Kubisch, Christian
   6. Borck, Guntram

   2015 - Forschungsinformationssystem des UKE
3. A post GWAS association study of SNPs associated with cleft lip with or without cleft palate in submucous cleft palate

   1. Reiter, Rudolf
   2. Brosch, Sibylle
   3. Goebel, Ingrid
   4. Ludwig, Kerstin U
   5. Pickhard, Anja
   6. Högel, Josef
   7. Schlömer, Guido

   2015 - Forschungsinformationssystem des UKE
4. STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly

   1. Kakar, Naseebullah
   2. Ahmad, Jamil
   3. Morris-Rosendahl, Deborah J
   4. Altmüller, Janine
   5. Friedrich, Katrin
   6. Barbi, Gotthold
   7. Nürnberg, Peter

   2015 - Forschungsinformationssystem des UKE