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Autor/in
- Alawi, Malik
- Harms, Frederike L
- Kutsche, Kerstin 3
- Meinecke, Peter 2
- Abalde-Atristain, Leire 1
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Sprache
- Englisch 7
7 Einträge gefunden
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Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation
- von Elsner, Leonie
- Chai, Guoliang
- Schneeberger, Pauline E
- Harms, Frederike L
- Casar, Christian
- Qi, Minyue
- Alawi, Malik
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Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype
2022 - Forschungsinformationssystem des UKE - frei zugänglich -
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Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities
- Karaca, Ender
- Posey, Jennifer E
- Bostwick, Bret
- Liu, Pengfei
- Gezdirici, Alper
- Yesil, Gozde
- Coban Akdemir, Zeynep
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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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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