12 Einträge gefunden

1. 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

   1. Abdelrazek, Ibrahim M.
   2. Holling, Tess
   3. Harms, Frederike Leonie
   4. Alawi, Malik
   5. Omar, Tarek
   6. Abdalla, Ebtesam
   7. Kutsche, Kerstin

   2023 - Forschungsinformationssystem des UKE
2. Clinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca2+ Sensitivity of the Channel

   1. Bauer, Christiane K
   2. Holling, Tess
   3. Horn, Denise
   4. Laço, Mário Nôro
   5. Abdalla, Ebtesam
   6. Omar, Omneya Magdy
   7. Alawi, Malik

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
3. 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
4. Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis

   1. Schneeberger, Pauline Elisabeth
   2. Nampoothiri, Sheela
   3. Holling, Tess
   4. Yesodharan, Dhanya
   5. Alawi, Malik
   6. Knisely, A S
   7. Müller, Thomas

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
5. 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
6. 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
7. Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype

   1. Kortüm, Fanny
   2. Marquardt, Iris
   3. Alawi, Malik
   4. Korenke, Georg Christoph
   5. Spranger, Stephanie
   6. Meinecke, Peter
   7. Kutsche, Kerstin

   2017 - Forschungsinformationssystem des UKE
8. A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene

   1. Girisha, Katta Mohan
   2. Kortüm, Fanny
   3. Shah, Hitesh
   4. Alawi, Malik
   5. Dalal, Ashwin
   6. Bhavani, Gandham SriLakshmi
   7. Kutsche, Kerstin

   2016 - Forschungsinformationssystem des UKE
9. Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis

   1. Vogel, Markus
   2. Velleuer, Eunike
   3. Schmidt-Jiménez, Leon F
   4. Mayatepek, Ertan
   5. Borkhardt, Arndt
   6. Alawi, Malik
   7. Kutsche, Kerstin

   2016 - Forschungsinformationssystem des UKE
10. An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome

    1. Abdollahpour, Hengameh
    2. Alawi, Malik
    3. Kortüm, Fanny
    4. Beckstette, Michael
    5. Seemanova, Eva
    6. Komárek, Vladimír
    7. Rosenberger, Georg

    2015 - Forschungsinformationssystem des UKE
11. Mutations in NDUFB11, Encoding a Complex I Component of the Mitochondrial Respiratory Chain, Cause Microphthalmia with Linear Skin Defects Syndrome

    1. van Rahden, Vanessa A
    2. Fernandez-Vizarra, Erika
    3. Alawi, Malik
    4. Brand, Kristina
    5. Fellmann, Florence
    6. Horn, Denise
    7. Zeviani, Massimo

    2015 - Forschungsinformationssystem des UKE
12. Exom-Sequenzierung zur Identifizierung von Krankheitsgenen für seltene Syndrome: Erfahrungen aus Hamburg

    1. Kortüm, Fanny
    2. Abdollahpour, Hengameh
    3. Alawi, Malik
    4. Korenke, Georg Christoph
    5. Seemanova, Eva
    6. Tinschert, Sigrid
    7. Zenker, Martin

    2014 - Forschungsinformationssystem des UKE