Facetten
Zugriff
Einrichtung
Medientyp
- Text 15
Karte
Erscheinungsjahr
Autor/in
- Nürnberg, Peter
- Kubisch, Christian 7
- Nürnberg, Gudrun 7
- Kakar, Naseebullah 5
- Altmüller, Janine 4
- alle zeigen
Sprache
15 Einträge gefunden
-
-
Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies
- Lessel, Ivana
- Chen, Mei-Jan
- Lüttgen, Sabine
- Arndt, Florian
- Fuchs, Sigrid
- Meien, Stefanie
- Thiele, Holger
-
-
-
STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly
- Kakar, Naseebullah
- Ahmad, Jamil
- Morris-Rosendahl, Deborah J
- Altmüller, Janine
- Friedrich, Katrin
- Barbi, Gotthold
- Nürnberg, Peter
-
De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients
- Hübers, Annemarie
- Just, Walter
- Rosenbohm, Angela
- Müller, Kathrin
- Marroquin, Nicolai
- Goebel, Ingrid
- Högel, Josef
-
-
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
-
-
-
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
-
-
Genes from Chagas susceptibility loci that are differentially expressed in T. cruzi-resistant mice are candidates accounting for impaired immunity.
- Graefe, Sebastian E B
- Streichert, Thomas
- Budde, Birgit S
- Nürnberg, Peter
- Steeg, Christiane
- Müller-Myhsok, Bertram
- Fleischer, Bernhard
-