5 Einträge gefunden

1. A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia

   1. Holling, Tess
   2. Bhavani, Gandham S
   3. von Elsner, Leonie
   4. Shah, Hitesh
   5. Kausthubham, Neethukrishna
   6. Bhattacharyya, Shaila S
   7. Shukla, Anju

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
2. Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy

   1. Dahimene, Shehrazade
   2. von Elsner, Leonie
   3. Holling, Tess
   4. Mattas, Lauren S
   5. Pickard, Jess
   6. Lessel, Davor
   7. Pilch, Kjara S

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
3. 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
4. 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
5. Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala)

   1. Holling, Tess
   2. Lisfeld, Jasmin
   3. Johannsen, Jessika
   4. Matschke, Jakob
   5. Song, Feizhi
   6. Altmeppen, Hermann Clemens
   7. Kutsche, Kerstin

   2022 - Forschungsinformationssystem des UKE - frei zugänglich