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Zugriff
Einrichtung
Medientyp
- Text 10
Karte
Erscheinungsjahr
Autor/in
- Kakar, Naseebullah
- Borck, Guntram 6
- Kubisch, Christian 6
- Nürnberg, Gudrun 6
- Ahmad, Jamil 5
- alle zeigen
Sprache
- Englisch 10
10 Einträge gefunden
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Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies
- Kakar, Naseebullah
- Horn, Denise
- Decker, Eva
- Sowada, Nadine
- Kubisch, Christian
- Ahmad, Jamil
- Borck, Guntram
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STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly
- Kakar, Naseebullah
- Ahmad, Jamil
- Morris-Rosendahl, Deborah J
- Altmüller, Janine
- Friedrich, Katrin
- Barbi, Gotthold
- Nürnberg, Peter
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Exon skipping and severe childhood-onset obesity caused by a leptin receptor mutation
2013 - Forschungsinformationssystem des UKE -
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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