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Einrichtung
Medientyp
- Text 14
Karte
Erscheinungsjahr
Autor/in
- Altmüller, Janine
- Thiele, Holger 6
- Kubisch, Christian 5
- Nürnberg, Peter 4
- Borck, Guntram 2
- alle zeigen
Sprache
- Englisch 14
14 Einträge gefunden
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MAGED2 controls vasopressin-induced aquaporin-2 expression in collecting duct cells
- Reusch, Björn
- Bartram, Malte P
- Dafinger, Claudia
- Palacio-Escat, Nicolàs
- Wenzel, Andrea
- Fenton, Robert A
- Saez-Rodriguez, Julio
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A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies
- Lessel, Davor
- Rading, Katrin
- Campbell, Susan E
- Thiele, Holger
- Altmüller, Janine
- Gordon, Leslie B
- Kubisch, Christian
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ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants
- Kloth, Katja
- Lozic, Bernarda
- Tagoe, Julia
- Hoffer, Mariëtte J V
- Van der Ven, Amelie
- Thiele, Holger
- Altmüller, Janine
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Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage
2020 - Forschungsinformationssystem des UKE -
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Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome
- Bauer, Christiane K
- Schneeberger, Pauline E
- Kortüm, Fanny
- Altmüller, Janine
- Santos-Simarro, Fernando
- Baker, Laura
- Keller-Ramey, Jennifer
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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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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
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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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