5 Einträge gefunden

1. Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia

   1. Daud, Shakeela
   2. Kakar, Naseebullah
   3. Goebel, Ingrid
   4. Hashmi, Abu Saeed
   5. Yaqub, Tahir
   6. Nürnberg, Gudrun
   7. Nürnberg, Peter

   2016 - Forschungsinformationssystem des UKE
2. 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
3. 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
4. An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group.

   1. Borck, Guntram
   2. Kakar, Naseebullah
   3. Hoch, Jochen
   4. Friedrich, Katrin
   5. Freudenberg, Jan
   6. Nürnberg, Gudrun
   7. Yilmaz, Rüstem

   2012 - Forschungsinformationssystem des UKE
5. Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.

   1. Ahmad, Adeel
   2. Daud, Shakeela
   3. Kakar, Naseebullah
   4. Nürnberg, Gudrun
   5. Nürnberg, Peter
   6. Babar, Masroor Ellahi
   7. Thoenes, Michaela

   2011 - Forschungsinformationssystem des UKE - frei zugänglich