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- Nürnberg, Gudrun
- Nürnberg, Peter 7
- Kakar, Naseebullah 6
- Kubisch, Christian 5
- Daud, Shakeela 4
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14 Einträge gefunden
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A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction
- Fazeli, Walid
- Herkenrath, Peter
- Stiller, Barbara
- Neugebauer, Antje
- Fricke, Julia
- Lang-Roth, Ruth
- Nürnberg, Gudrun
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Ethnic-Specific WRN Mutations in South Asian Werner Syndrome Patients: Potential Founder Effect in Patients with Indian or Pakistani Ancestry
- Saha, Bidisha
- Lessel, Davor
- Nampoothiri, Sheela
- Rao, Anuradha S
- Hisama, Fuki M
- Peter, Dincy
- Bennett, Chris
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A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.
- Kakar, Naseebullah
- Goebel, Ingrid
- Daud, Shakeela
- Nürnberg, Gudrun
- Agha, Noor
- Ahmad, Adeel
- Nürnberg, Peter
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Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.
- Borck, Guntram
- Atteeq, Ur Rehman
- Lee, Kwanghyuk
- Pogoda, Hans-Martin
- Kakar, Naseebullah
- von Ameln, Simon
- Grillet, Nicolas
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Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.
- Ahmad, Adeel
- Daud, Shakeela
- Kakar, Naseebullah
- Nürnberg, Gudrun
- Nürnberg, Peter
- Babar, Masroor Ellahi
- Thoenes, Michaela
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Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.
- Li, Yun
- Pohl, Esther
- Boulouiz, Redouane
- Schraders, Margit
- Nürnberg, Gudrun
- Charif, Majida
- Admiraal, Ronald J C
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Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11
2009 - Forschungsinformationssystem des UKE - frei zugänglich -