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Autor/in
- Alawi, Malik
- Kortüm, Fanny
- Kutsche, Kerstin 5
- Korenke, Georg Christoph 4
- Abdollahpour, Hengameh 2
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Sprache
9 Einträge gefunden
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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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Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype
- Kortüm, Fanny
- Marquardt, Iris
- Alawi, Malik
- Korenke, Georg Christoph
- Spranger, Stephanie
- Meinecke, Peter
- Kutsche, Kerstin
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Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome
- Kortüm, Fanny
- Caputo, Viviana
- Bauer, Christiane K
- Stella, Lorenzo
- Ciolfi, Andrea
- Alawi, Malik
- Bocchinfuso, Gianfranco
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An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome
- Abdollahpour, Hengameh
- Alawi, Malik
- Kortüm, Fanny
- Beckstette, Michael
- Seemanova, Eva
- Komárek, Vladimír
- Rosenberger, Georg
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