7 Einträge gefunden

1. Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domain

   1. Tibbe, Debora
   2. Ferle, Pia
   3. Krisp, Christoph
   4. Nampoothiri, Sheela
   5. Mirzaa, Ghayda
   6. Assaf, Melissa
   7. Parikh, Sumit

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
2. Novel biallelic variants expand the SLC5A6-related phenotypic spectrum

   1. Holling, Tess
   2. Nampoothiri, Sheela
   3. Tarhan, Bedirhan
   4. Schneeberger, Pauline E
   5. Vinayan, Kollencheri Puthenveettil
   6. Yesodharan, Dhanya
   7. Roy, Arun Grace

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
3. 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
4. Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

   1. Elouej, Sahar
   2. Harhouri, Karim
   3. Le Mao, Morgane
   4. Baujat, Genevieve
   5. Nampoothiri, Sheela
   6. Kayserili, Hϋlya
   7. Menabawy, Nihal Al

   2020 - Forschungsinformationssystem des UKE
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. Goltz-Gorlin Syndrome: Revisiting the Clinical Spectrum

   1. Yesodharan, Dhanya
   2. Büschenfelde, Uta Meyer Zum
   3. Kutsche, Kerstin
   4. Mohandas Nair, K
   5. Nampoothiri, Sheela

   2018 - Forschungsinformationssystem des UKE
7. Ethnic-Specific WRN Mutations in South Asian Werner Syndrome Patients: Potential Founder Effect in Patients with Indian or Pakistani Ancestry

   1. Saha, Bidisha
   2. Lessel, Davor
   3. Nampoothiri, Sheela
   4. Rao, Anuradha S
   5. Hisama, Fuki M
   6. Peter, Dincy
   7. Bennett, Chris

   2013 - Forschungsinformationssystem des UKE - frei zugänglich