Facetten
Zugriff
Einrichtung
Medientyp
- Text 5
Karte
Erscheinungsjahr
Autor/in
- Ahmad, Jamil
- Kakar, Naseebullah 5
- Kubisch, Christian 5
- Borck, Guntram 4
- Nürnberg, Peter 3
- alle zeigen
Sprache
- Englisch 5
5 Einträge gefunden
-
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
-
STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly
- Kakar, Naseebullah
- Ahmad, Jamil
- Morris-Rosendahl, Deborah J
- Altmüller, Janine
- Friedrich, Katrin
- Barbi, Gotthold
- Nürnberg, Peter
-
Exon skipping and severe childhood-onset obesity caused by a leptin receptor mutation
2013 - Forschungsinformationssystem des UKE -
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
-
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