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. 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
3. Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice

   1. Spielmann, Malte
   2. Kakar, Naseebullah
   3. Tayebi, Naeimeh
   4. Leettola, Catherine
   5. Nürnberg, Gudrun
   6. Sowada, Nadine
   7. Lupiáñez, Darío G

   2016 - 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
5. 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
6. Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum

   1. Basel-Vanagaite, Lina
   2. Hershkovitz, Tova
   3. Heyman, Eli
   4. Raspall-Chaure, Miquel
   5. Kakar, Naseebullah
   6. Smirin-Yosef, Pola
   7. Vila-Pueyo, Marta

   2013 - Forschungsinformationssystem des UKE
7. 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
8. 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
9. 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
10. 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