14 Einträge gefunden

1. A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction

   1. Fazeli, Walid
   2. Herkenrath, Peter
   3. Stiller, Barbara
   4. Neugebauer, Antje
   5. Fricke, Julia
   6. Lang-Roth, Ruth
   7. Nürnberg, Gudrun

   2017 - Forschungsinformationssystem des UKE
2. AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance

   1. Lang-Roth, Ruth
   2. Fischer-Krall, Eva
   3. Kornblum, Cornelia
   4. Nürnberg, Gudrun
   5. Meschede, Dieter
   6. Goebel, Ingrid
   7. Nürnberg, Peter

   2017 - 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. Linkage and Association Analysis Identifies TRAF1 Influencing Common Carotid Intima-Media Thickness

   1. Heßler, Nicole
   2. Geisel, Marie Henrike
   3. Coassin, Stefan
   4. Erbel, Raimund
   5. Heilmann, Stefanie
   6. Hennig, Frauke
   7. Hoffmann, Barbara

   2016 - Forschungsinformationssystem des UKE
5. 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
6. Ethnic-Specific WRN Mutations in South Asian Werner Syndrome Patients: Potential Founder Effect in Patients with Indian or Pakistani Ancestry

   1. Saha, Bidisha
   2. Lessel, Davor
   3. Nampoothiri, Sheela
   4. Rao, Anuradha S
   5. Hisama, Fuki M
   6. Peter, Dincy
   7. Bennett, Chris

   2013 - Forschungsinformationssystem des UKE - frei zugänglich
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. 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
10. 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
11. Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.

    1. Li, Yun
    2. Pohl, Esther
    3. Boulouiz, Redouane
    4. Schraders, Margit
    5. Nürnberg, Gudrun
    6. Charif, Majida
    7. Admiraal, Ronald J C

    2010 - Forschungsinformationssystem des UKE
12. WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.

    1. Friedrich, Katrin
    2. Lee, Lin
    3. Leistritz, Dru F
    4. Nürnberg, Gudrun
    5. Saha, Bidisha
    6. Hisama, Fuki M
    7. Eyman, Daniel K

    2010 - Forschungsinformationssystem des UKE
13. Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.

    1. Kurth, Ingo
    2. Pamminger, Torsten
    3. Hennings, J Christopher
    4. Soehendra, Désirée
    5. Huebner, Antje K
    6. Rotthier, Annelies
    7. Baets, Jonathan

    2009 - Forschungsinformationssystem des UKE
14. Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11

    1. zur Stadt, Udo
    2. Rohr, Jan
    3. Seifert, Wenke
    4. Koch, Florian
    5. Grieve, Samantha
    6. Pagel, Julia
    7. Strauss, Julia

    2009 - Forschungsinformationssystem des UKE - frei zugänglich