7 Einträge gefunden

1. Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype

   1. Abdalla, Ebtesam
   2. Alawi, Malik
   3. Meinecke, Peter
   4. Kutsche, Kerstin
   5. Harms, Frederike L

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
2. Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation

   1. von Elsner, Leonie
   2. Chai, Guoliang
   3. Schneeberger, Pauline E
   4. Harms, Frederike L
   5. Casar, Christian
   6. Qi, Minyue
   7. Alawi, Malik

   2022 - Forschungsinformationssystem des UKE
3. Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth

   1. Harms, Frederike L
   2. Parthasarathy, Padmini
   3. Zorndt, Dennis
   4. Alawi, Malik
   5. Fuchs, Sigrid
   6. Halliday, Benjamin J
   7. McKeown, Colina

   2020 - Forschungsinformationssystem des UKE
4. Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities

   1. Karaca, Ender
   2. Posey, Jennifer E
   3. Bostwick, Bret
   4. Liu, Pengfei
   5. Gezdirici, Alper
   6. Yesil, Gozde
   7. Coban Akdemir, Zeynep

   2019 - Forschungsinformationssystem des UKE
5. A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy

   1. Piard, Juliette
   2. Umanah, George K Essien
   3. Harms, Frederike L
   4. Abalde-Atristain, Leire
   5. Amram, Daniel
   6. Chang, Melissa
   7. Chen, Rong

   2018 - Forschungsinformationssystem des UKE
6. Elsahy-Waters syndrome is caused by biallelic mutations in CDH11

   1. Harms, Frederike L
   2. Nampoothiri, Sheela
   3. Anazi, Shams
   4. Yesodharan, Dhanya
   5. Alawi, Malik
   6. Kutsche, Kerstin
   7. Alkuraya, Fowzan S

   2018 - Forschungsinformationssystem des UKE
7. 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

   1. Harms, Frederike L
   2. Alawi, Malik
   3. Amor, David J
   4. Tan, Tiong Y
   5. Cuturilo, Goran
   6. Lissewski, Christina
   7. Brinkmann, Julia

   2018 - Forschungsinformationssystem des UKE