6 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. 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. 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
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. 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
6. Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.

   1. Borck, Guntram
   2. Atteeq, Ur Rehman
   3. Lee, Kwanghyuk
   4. Pogoda, Hans-Martin
   5. Kakar, Naseebullah
   6. von Ameln, Simon
   7. Grillet, Nicolas

   2011 - Forschungsinformationssystem des UKE