8 Einträge gefunden

1. 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
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. 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
4. MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency

   1. Knapp, Karen M
   2. Jenkins, Danielle E
   3. Sullivan, Rosie
   4. Harms, Frederike L
   5. von Elsner, Leonie
   6. Ockeloen, Charlotte W
   7. de Munnik, Sonja

   2021 - Forschungsinformationssystem des UKE
5. Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities

   1. Schneeberger, Pauline E
   2. von Elsner, Leonie
   3. Barker, Emma L
   4. Meinecke, Peter
   5. Marquardt, Iris
   6. Alawi, Malik
   7. Steindl, Katharina

   2020 - Forschungsinformationssystem des UKE
6. A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions

   1. Coste de Bagneaux, Pierre
   2. von Elsner, Leonie
   3. Bierhals, Tatjana
   4. Campiglio, Marta
   5. Johannsen, Jessika
   6. Obermair, Gerald J
   7. Hempel, Maja

   2020 - Forschungsinformationssystem des UKE
7. The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function

   1. Girisha, Katta M
   2. von Elsner, Leonie
   3. Neethukrishna, Kausthubham
   4. Muranjan, Mamta
   5. Shukla, Anju
   6. Bhavani, Gandham SriLakshmi
   7. Nishimura, Gen

   2019 - Forschungsinformationssystem des UKE
8. RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1

   1. Meyer Zum Büschenfelde, Uta
   2. Brandenstein, Laura Isabel
   3. von Elsner, Leonie
   4. Flato, Kristina
   5. Holling, Tess
   6. Zenker, Martin
   7. Rosenberger, Georg

   2018 - Forschungsinformationssystem des UKE - frei zugänglich