7 Einträge gefunden

1. 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
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 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. 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. 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
6. 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
7. 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