10 Einträge gefunden

1. Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies

   1. Kakar, Naseebullah
   2. Horn, Denise
   3. Decker, Eva
   4. Sowada, Nadine
   5. Kubisch, Christian
   6. Ahmad, Jamil
   7. Borck, Guntram

   2018 - Forschungsinformationssystem des UKE
2. Comprehensive analysis of the mutation spectrum in 301 German ALS families

   1. Müller, Kathrin
   2. Brenner, David
   3. Weydt, Patrick
   4. Meyer, Thomas
   5. Grehl, Torsten
   6. Petri, Susanne
   7. Grosskreutz, Julian

   2018 - Forschungsinformationssystem des UKE
3. 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
4. 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
5. 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
6. 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
7. Exon skipping and severe childhood-onset obesity caused by a leptin receptor mutation

   1. Kakar, Naseebullah
   2. Ahmad, Jamil
   3. Kubisch, Christian
   4. Borck, Guntram

   2013 - Forschungsinformationssystem des UKE
8. A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.

   1. Kakar, Naseebullah
   2. Goebel, Ingrid
   3. Daud, Shakeela
   4. Nürnberg, Gudrun
   5. Agha, Noor
   6. Ahmad, Adeel
   7. Nürnberg, Peter

   2012 - Forschungsinformationssystem des UKE
9. Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients.

   1. Volk, Alexander E
   2. Carter, Oliver
   3. Fricke, Julia
   4. Herkenrath, Peter
   5. Poggenborg, Jörg
   6. Borck, Guntram
   7. Demant, Andre W

   2011 - Forschungsinformationssystem des UKE - frei zugänglich
10. Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation.

    1. Borck, Guntram
    2. Beighton, Peter
    3. Wilhelm, Christian
    4. Kohlhase, Jürgen
    5. Kubisch, Christian

    2010 - Forschungsinformationssystem des UKE