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- Horn, Denise
- Kutsche, Kerstin 5
- Kortüm, Fanny 3
- Alawi, Malik 2
- Kakar, Naseebullah 2
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11 Einträge gefunden
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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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Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies
- Knaus, Alexej
- Kortüm, Fanny
- Kleefstra, Tjitske
- Stray-Pedersen, Asbjørg
- Đukić, Dejan
- Murakami, Yoshiko
- Gerstner, Thorsten
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Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation
2018 - Forschungsinformationssystem des UKE -
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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Mutations in NDUFB11, Encoding a Complex I Component of the Mitochondrial Respiratory Chain, Cause Microphthalmia with Linear Skin Defects Syndrome
- van Rahden, Vanessa A
- Fernandez-Vizarra, Erika
- Alawi, Malik
- Brand, Kristina
- Fellmann, Florence
- Horn, Denise
- Zeviani, Massimo
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The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
- Kortüm, Fanny
- Das, Soma
- Flindt, Max
- Morris-Rosendahl, Deborah J
- Stefanova, Irina
- Goldstein, Amy
- Horn, Denise
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The face of Noonan syndrome: Does phenotype predict genotype.
- Allanson, Judith E
- Bohring, Axel
- Dörr, Helmuth-Guenther
- Dufke, Andreas
- Gillessen-Kaesbach, Gabrielle
- Horn, Denise
- König, Rainer
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A restricted spectrum of NRAS mutations causes Noonan syndrome.
- Cirstea, Ion C
- Kutsche, Kerstin
- Dvorsky, Radovan
- Gremer, Lothar
- Carta, Claudio
- Horn, Denise
- Roberts, Amy E
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