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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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Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and review of the literature
- Abdelrazek, Ibrahim M.
- Holling, Tess
- Harms, Frederike Leonie
- Alawi, Malik
- Omar, Tarek
- Abdalla, Ebtesam
- Kutsche, Kerstin
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Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype
2022 - Forschungsinformationssystem des UKE - frei zugänglich -
Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala)
- Holling, Tess
- Lisfeld, Jasmin
- Johannsen, Jessika
- Matschke, Jakob
- Song, Feizhi
- Altmeppen, Hermann Clemens
- Kutsche, Kerstin
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Clinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca2+ Sensitivity of the Channel
- Bauer, Christiane K
- Holling, Tess
- Horn, Denise
- Laço, Mário Nôro
- Abdalla, Ebtesam
- Omar, Omneya Magdy
- Alawi, Malik
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Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domain
- Tibbe, Debora
- Ferle, Pia
- Krisp, Christoph
- Nampoothiri, Sheela
- Mirzaa, Ghayda
- Assaf, Melissa
- Parikh, Sumit
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EBF3 Neurodevelopmental Disorder
2021 - Forschungsinformationssystem des UKE -
Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2
2021 - Forschungsinformationssystem des UKE -
Das Marfan-Syndrom als genetisch bedingte Aortenerkrankung
2021 - Forschungsinformationssystem des UKE -
Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis
- Schneeberger, Pauline Elisabeth
- Nampoothiri, Sheela
- Holling, Tess
- Yesodharan, Dhanya
- Alawi, Malik
- Knisely, A S
- Müller, Thomas
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A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions
- Coste de Bagneaux, Pierre
- von Elsner, Leonie
- Bierhals, Tatjana
- Campiglio, Marta
- Johannsen, Jessika
- Obermair, Gerald J
- Hempel, Maja
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The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function
- Girisha, Katta M
- von Elsner, Leonie
- Neethukrishna, Kausthubham
- Muranjan, Mamta
- Shukla, Anju
- Bhavani, Gandham SriLakshmi
- Nishimura, Gen
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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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Case-matched Comparison of Cardiovascular Outcome in Loeys-Dietz Syndrome versus Marfan Syndrome
- Mühlstädt, Kristina
- De Backer, Julie
- von Kodolitsch, Yskert
- Kutsche, Kerstin
- Muiño Mosquera, Laura
- Brickwedel, Jens
- Girdauskas, Evaldas
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de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation
2019 - Forschungsinformationssystem des UKE - frei zugänglich -
Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype
- Kloth, Katja
- Bierhals, Tatjana
- Johannsen, Jessika
- Harms, Frederike L
- Juusola, Jane
- Johnson, Mark C
- Grange, Dorothy K