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- Kutsche, Kerstin
- Alawi, Malik 12
- Rosenberger, Georg 12
- Kortüm, Fanny 11
- Bierhals, Tatjana 7
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81 Einträge gefunden
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Elsahy-Waters syndrome is caused by biallelic mutations in CDH11
- Harms, Frederike L
- Nampoothiri, Sheela
- Anazi, Shams
- Yesodharan, Dhanya
- Alawi, Malik
- Kutsche, Kerstin
- Alkuraya, Fowzan S
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The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor
- Harms, Frederike L
- Alawi, Malik
- Amor, David J
- Tan, Tiong Y
- Cuturilo, Goran
- Lissewski, Christina
- Brinkmann, Julia
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Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation
2018 - Forschungsinformationssystem des UKE -
Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder
- Harms, Frederike L
- Kloth, Katja
- Bley, Annette
- Denecke, Jonas
- Santer, René
- Lessel, Davor
- Hempel, Maja
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RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1
- Meyer Zum Büschenfelde, Uta
- Brandenstein, Laura Isabel
- von Elsner, Leonie
- Flato, Kristina
- Holling, Tess
- Zenker, Martin
- Rosenberger, Georg
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Goltz-Gorlin Syndrome: Revisiting the Clinical Spectrum
- Yesodharan, Dhanya
- Büschenfelde, Uta Meyer Zum
- Kutsche, Kerstin
- Mohandas Nair, K
- Nampoothiri, Sheela
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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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The role of the multidisciplinary health care team in the management of patients with Marfan syndrome
- von Kodolitsch, Yskert
- Rybczynski, Meike
- Vogler, Marina
- Mir, Thomas S
- Schüler, Helke
- Kutsche, Kerstin
- Rosenberger, Georg
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Clinical and genetic diagnosis of Marfan syndrome in childhood are Equal- FBN1 mutation should not influence handling of pediatric patients with confirmed Marfansyndrome
- Stark, Veronika
- Arndt, Florian
- Harring, Gesa
- Keyser, Britta
- von Kodolitsch, Yskert
- Kozlik-Feldmann, Rainer
- Kutsche, Kerstin
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Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients
- Girisha, Katta Mohan
- Bidchol, Abdul Mueed
- Graul-Neumann, Luitgard
- Gupta, Ashish
- Hehr, Ute
- Lessel, Davor
- Nader, Sean
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