Facetten
Zugriff
Einrichtung
Medientyp
- Text 17
Karte
Erscheinungsjahr
Autor/in
- Borck, Guntram
- Kubisch, Christian 10
- Kakar, Naseebullah 6
- Ahmad, Jamil 4
- Nürnberg, Peter 4
- alle zeigen
Sprache
- Englisch 17
17 Einträge gefunden
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SQSTM1/p62 variants in 486 patients with familial ALS from Germany and Sweden
- Yilmaz, Rüstem
- Müller, Kathrin
- Brenner, David
- Volk, Alexander E
- Borck, Guntram
- Hermann, Andreas
- Meitinger, Thomas
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Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9
- Kortüm, Fanny
- Jamra, Rami Abou
- Alawi, Malik
- Berry, Susan A
- Borck, Guntram
- Helbig, Katherine L
- Tang, Sha
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Comprehensive analysis of the mutation spectrum in 301 German ALS families
- Müller, Kathrin
- Brenner, David
- Weydt, Patrick
- Meyer, Thomas
- Grehl, Torsten
- Petri, Susanne
- Grosskreutz, Julian
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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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NEK1 mutations in familial amyotrophic lateral sclerosis
- Brenner, David
- Müller, Kathrin
- Wieland, Thomas
- Weydt, Patrick
- Böhm, Sarah
- Lulé, Dorothée
- Hübers, Annemarie
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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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Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients.
- Volk, Alexander E
- Carter, Oliver
- Fricke, Julia
- Herkenrath, Peter
- Poggenborg, Jörg
- Borck, Guntram
- Demant, Andre W
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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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Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation.
2010 - Forschungsinformationssystem des UKE