9 Einträge gefunden

1. 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
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. Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing

   1. Nayak, Shalini S
   2. Schneeberger, Pauline E
   3. Patil, Siddaramappa J
   4. Arun, Karegowda M
   5. Suresh, Pujar V
   6. Kiran, Viralam S
   7. Siddaiah, Sateesh

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
4. CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders

   1. El Ghaleb, Yousra
   2. Schneeberger, Pauline E
   3. Fernández-Quintero, Monica L
   4. Geisler, Stefanie M
   5. Pelizzari, Simone
   6. Polstra, Abeltje M
   7. van Hagen, Johanna M

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
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. 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
7. Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2

   1. Schneeberger, Pauline E
   2. Nayak, Shalini S
   3. Fuchs, Sigrid
   4. Kutsche, Kerstin
   5. Girisha, Katta M

   2020 - Forschungsinformationssystem des UKE
8. de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation

   1. Schneeberger, Pauline E
   2. Bierhals, Tatjana
   3. Neu, Axel
   4. Hempel, Maja
   5. Kutsche, Kerstin

   2019 - Forschungsinformationssystem des UKE - frei zugänglich
9. Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca²⁺-Activated K⁺ Channel SK3 Cause Zimmermann-Laband Syndrome

   1. Bauer, Christiane K
   2. Schneeberger, Pauline E
   3. Kortüm, Fanny
   4. Altmüller, Janine
   5. Santos-Simarro, Fernando
   6. Baker, Laura
   7. Keller-Ramey, Jennifer

   2019 - Forschungsinformationssystem des UKE