9 Einträge gefunden

1. Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

   1. Schneeberger, Pauline E
   2. Kortüm, Fanny
   3. Korenke, Georg Christoph
   4. Alawi, Malik
   5. Santer, René
   6. Woidy, Mathias
   7. Buhas, Daniela

   2020 - Forschungsinformationssystem des UKE
2. Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9

   1. Kortüm, Fanny
   2. Jamra, Rami Abou
   3. Alawi, Malik
   4. Berry, Susan A
   5. Borck, Guntram
   6. Helbig, Katherine L
   7. Tang, Sha

   2018 - Forschungsinformationssystem des UKE
3. 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
4. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

   1. Harms, Frederike Leonie
   2. Girisha, Katta M
   3. Hardigan, Andrew A
   4. Kortüm, Fanny
   5. Shukla, Anju
   6. Alawi, Malik
   7. Dalal, Ashwin

   2017 - Forschungsinformationssystem des UKE
5. 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
6. 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
7. Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

   1. Kortüm, Fanny
   2. Caputo, Viviana
   3. Bauer, Christiane K
   4. Stella, Lorenzo
   5. Ciolfi, Andrea
   6. Alawi, Malik
   7. Bocchinfuso, Gianfranco

   2015 - Forschungsinformationssystem des UKE
8. 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
9. 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